Activity
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| COVID-19 research v0.40 | RHOH |
Ellen McDonagh Source Expert Review Green was added to RHOH. Added phenotypes T cell deficiency and various infectious diseases; Combined immunodeficiency; HPV infection, lung granulomas, molluscum contagiosum, lymphoma; Epidermodysplasia verruciformis; Immunodeficiencies affecting cellular and humoral immunity; RhoH deficiency for gene: RHOH Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| COVID-19 research v0.40 | POLE |
Ellen McDonagh Source Expert Review Green was added to POLE. Added phenotypes Recurrent respiratory infections, meningitis, facial dysmorphism, livido, short stature; Combined immunodeficiencies with associated or syndromic features; FILS syndrome 615139; Facial dysmorphism, immunodeficiency, livedo, and short stature (FILS syndrome) for gene: POLE Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| COVID-19 research v0.40 | PMS2 |
Ellen McDonagh Source Expert Review Green was added to PMS2. Added phenotypes Recurrent infections, cafe-au-lait spots, lymphoma, colorectal carcinoma, brain tumors; Post-Meiotic Segregation 2 (PMS2) deficiency; Mismatch repair cancer syndrome 276300; Combined immunodeficiencies with associated or syndromic features; CSR defects and Hyper IgM (HIGM) syndromes; Recurrent infections, caf-au-lait spots, lymphoma, colorectal carcinoma, brain tumors for gene: PMS2 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| COVID-19 research v0.40 | NOP10 |
Ellen McDonagh Source Expert Review Green was added to NOP10. Added phenotypes Dyskeratosis congenita; Hoyeraal-Hreidarsson syndrome; Dyskeratosis congenita 1; Dyskeratosis congenita, autosomal recessive 1 224230; Combined immunodeficiencies with associated or syndromic features; Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients for gene: NOP10 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| COVID-19 research v0.40 | IRF7 |
Ellen McDonagh Added phenotypes Severe influenza; ?Immunodeficiency 39, 616345; Severe influenza disease; IRF7 deficiency; Defects in Intrinsic and Innate Immunity for gene: IRF7 Publications for gene IRF7 were updated from 26761402; 9315633; 32086639; 25814066; 32048120; 26621750 to 26761402; 9315633; 32086639; 25814066; 32048120; 26621750 |
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| COVID-19 research v0.40 | IL21 |
Ellen McDonagh Source Expert Review Green was added to IL21. Added phenotypes Immunodeficiency, common variable, 11, 615767; Severe early onset colitis, recurrent sinopulmonary infections; Immunodeficiencies affecting cellular and humoral immunity for gene: IL21 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| COVID-19 research v0.40 | IGKC |
Ellen McDonagh Source Expert Review Green was added to IGKC. Added phenotypes Immunoglobulin chain deficiencies; Kappa light chain deficiency, 614102; Asymptomatic; Predominantly Antibody Deficiencies for gene: IGKC Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| COVID-19 research v0.40 | FPR1 |
Ellen McDonagh Source Expert Review Green was added to FPR1. Added phenotypes Periodontitis only; Congenital defects of phagocyte number or function; Periodontitis; Localized juvenile peridontitis for gene: FPR1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| COVID-19 research v0.40 | FCGR3A | Ellen McDonagh Added phenotypes severe herpes viral infections, particularly VZV, Epstein Barr virus (EBV), and (HPV); CD16 deficiency; predisposition to severe viral infection; Immunodeficiency 20, 615707; Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity; Defects in Intrinsic and Innate Immunity; Fc receptor deficiencies for gene: FCGR3A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.40 | DNASE1L3 |
Ellen McDonagh Source Expert Review Green was added to DNASE1L3. Added phenotypes Systemic lupus erythematosus 16, 614420; Autoinflammatory Disorders; Diseases of Immune Dysregulation; familial early-onset SLE; Systemic lupus erythematosus, lupus nephritis, hypocomplementemic urticarial vasculitis for gene: DNASE1L3 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| COVID-19 research v0.40 | CTC1 |
Ellen McDonagh Source Expert Review Green was added to CTC1. Added phenotypes Cerebroretinal microangiopathy with calcifications and cysts, 612199; Combined immunodeficiencies with associated or syndromic features; Bone marrow failure; Intrauterine growth retardation, sparse graying hair, dystrophic nails, trilinear bone marrow failure, osteopenia, gastrointestinal hemorrhage due to vascular ectasia, retinal telangiectasia, intracranial calcification, abnormal telomeres for gene: CTC1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| COVID-19 research v0.40 | CR2 |
Ellen McDonagh Source Expert Review Green was added to CR2. Added phenotypes Recurrent infections; Lupus; Isolated IgG subclass deficiency; Immunodeficiency, common variable, 7; Common variable immunodeficiency disorders (CVID); hypogammaglobulinaemia; Predominantly Antibody Deficiencies; Immunodeficiency, common variable, 7, 614699 for gene: CR2 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| COVID-19 research v0.40 | CFTR |
Ellen McDonagh Source Expert Review Green was added to CFTR. Added phenotypes Congenital defects of phagocyte number or function; Respiratory infections, pancreatic insufficiency, elevated sweat chloride; Cystic fibrosis, 219700 for gene: CFTR Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| COVID-19 research v0.40 | CD8A |
Ellen McDonagh Source Expert Review Green was added to CD8A. Added phenotypes Susceptibility to respiratory infections associated with CD8alpha chain mutation; Immunodeficiencies affecting cellular and humoral immunity; CD8 deficiency familial, 608957; Recurrent infections, may be asymptomatic for gene: CD8A Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| COVID-19 research v0.40 | CD81 |
Ellen McDonagh Source Expert Review Green was added to CD81. Added phenotypes CD81 deficiency; Isolated IgG subclass deficiency; Recurrent infections, may have glomerulonephritis; Common variable immunodeficiency disorders (CVID); hypogammaglobulinaemia; Predominantly Antibody Deficiencies; Immunodeficiency, common variable 6, 613496 for gene: CD81 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| COVID-19 research v0.40 | CD247 |
Ellen McDonagh Source Expert Review Green was added to CD247. Added phenotypes ?Immunodeficiency 25; T-B+ severe combined immunodeficiency due to CD3zeta; Immunodeficiency 25, 610163; Atypical Severe Combined Immunodeficiency (Atypical SCID); Nl NK, no g/d T cells; Immunodeficiencies affecting cellular and humoral immunity; T-B+ SCID; Severe combined immunodeficiency (SCID) for gene: CD247 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| COVID-19 research v0.40 | BCL10 |
Ellen McDonagh Source Expert Review Green was added to BCL10. Added phenotypes Combined immunodeficiency with B cell, T cell, and fibroblast defects; ?Immunodeficiency 37, 616098; Recurrent bacterial and viral infections, candidiasis, gastroenteritis; Immunodeficiencies affecting cellular and humoral immunity for gene: BCL10 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| COVID-19 research v0.40 | AP1S3 |
Ellen McDonagh Source Expert Review Green was added to AP1S3. Added phenotypes Pustular psoriasis, 616106; Autoinflammatory Disorders; Pustular psoriasis for gene: AP1S3 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| COVID-19 research v0.40 | ADAM17 |
Ellen McDonagh Source Expert Review Green was added to ADAM17. Added phenotypes IBD-1; ADAM17 deficiency; Inflammatory skin and bowel disease, neonatal, 1; Inflammatory skin and bowel disease, neonatal 1, 614328; Autoinflammatory Disorders; inflammatory skin; Early onset diarrhea and skin lesions for gene: ADAM17 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| COVID-19 research v0.39 | FBF1 | Catherine Snow reviewed gene: FBF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.39 | IFNAR1 |
Sarah Leigh gene: IFNAR1 was added gene: IFNAR1 was added to Viral susceptibility. Sources: Literature Mode of inheritance for gene: IFNAR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFNAR1 were set to 31270247; 26676772; 20020050 Phenotypes for gene: IFNAR1 were set to IFNAR1 associated adverse reactions to certain live attenuated viral vaccines Review for gene: IFNAR1 was set to AMBER Added comment: Hypothesis from Abdelazeem Elhabyan (Tanta University Hospitals): this gene is involved in the interferon-mediated immune response to viruses of those is SARS Coronavirus (2003) which down-regulates the IFNAR1 receptors through its 3a protein. Additionally, Influenzavirus A suppress immune response by downregulation of this gene. It has been also linked to adverse reactions to measles and yellow fever vaccines in healthy individuals. Sources: Literature |
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| Hereditary ataxia, adult onset v2.8 | RFC1 |
Zornitza Stark gene: RFC1 was added gene: RFC1 was added to Hereditary ataxia - adult onset. Sources: Expert Review Mode of inheritance for gene: RFC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RFC1 were set to 30926972 Phenotypes for gene: RFC1 were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome OMIM 614575 Mode of pathogenicity for gene: RFC1 was set to Other Review for gene: RFC1 was set to GREEN gene: RFC1 was marked as current diagnostic Added comment: 23 affected individuals from 11 families reported with biallelic AAGGG repeat expansion in intron 2. Expansion carrier frequency of 0.7% in Europeans. Sources: Expert Review |
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| Long QT syndrome v2.5 | KCNE1 | Claire Kirk commented on gene: KCNE1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.4 | VAPB |
Zornitza Stark gene: VAPB was added gene: VAPB was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Expert list Mode of inheritance for gene: VAPB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: VAPB were set to 15372378; 32162544; 28993872; 28173107; 26566915 Phenotypes for gene: VAPB were set to Adult proximal spinal muscular atrophy, autosomal dominant; dHMN/dSMA; Spinal muscular atrophy, late-onset, Finkel type, MIM# 182980 Review for gene: VAPB was set to GREEN Added comment: p.P56S variant found in multiple families from different ethnicities but additional variant also reported; functional data. Sources: Expert list |
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| Hereditary neuropathy or pain disorder v1.4 | UBA1 |
Zornitza Stark gene: UBA1 was added gene: UBA1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Expert list Mode of inheritance for gene: UBA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: UBA1 were set to 18179898 Phenotypes for gene: UBA1 were set to Spinal muscular atrophy, X-linked 2, infantile MIM#301830 Review for gene: UBA1 was set to GREEN gene: UBA1 was marked as current diagnostic Added comment: Five families reported, gene is Green on the Paediatric motor neuropathies panel. Sources: Expert list |
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| Hereditary neuropathy or pain disorder v1.4 | SYT2 | Zornitza Stark reviewed gene: SYT2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25192047, 30533528, 26519543; Phenotypes: Myasthenic syndrome, congenital, 7, presynaptic, HMSN; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.4 | SCO2 |
Zornitza Stark gene: SCO2 was added gene: SCO2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Expert list Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCO2 were set to 29351582 Phenotypes for gene: SCO2 were set to axonal Charcot-Marie-Tooth disease Review for gene: SCO2 was set to AMBER Added comment: Two unrelated cases with compound heterozygous variants and a CMT phenotype. Cardiomyopathy not present. Sources: Expert list |
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| COVID-19 research v0.36 | NFKBID |
Ellen McDonagh gene: NFKBID was added gene: NFKBID was added to Viral susceptibility. Sources: Expert Review Red,Victorian Clinical Genetics Services Mode of inheritance for gene: NFKBID was set to Unknown |
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| COVID-19 research v0.36 | MPI |
Ellen McDonagh gene: MPI was added gene: MPI was added to Viral susceptibility. Sources: Expert Review Red,Victorian Clinical Genetics Services Mode of inheritance for gene: MPI was set to Unknown |
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| COVID-19 research v0.36 | MASP1 |
Ellen McDonagh gene: MASP1 was added gene: MASP1 was added to Viral susceptibility. Sources: Expert Review Red,ESID Registry 20171117 Mode of inheritance for gene: MASP1 was set to Unknown Phenotypes for gene: MASP1 were set to Mannan-binding lectin serine protease (MASP) deficiency |
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| COVID-19 research v0.36 | IL23A |
Ellen McDonagh gene: IL23A was added gene: IL23A was added to Viral susceptibility. Sources: Expert Review Red,ESID Registry 20171117 Mode of inheritance for gene: IL23A was set to Unknown Phenotypes for gene: IL23A were set to Defects with susceptibility to mycobacterial infection (MSMD) |
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| COVID-19 research v0.36 | IL18 |
Ellen McDonagh gene: IL18 was added gene: IL18 was added to Viral susceptibility. Sources: Expert Review Red,ESID Registry 20171117 Mode of inheritance for gene: IL18 was set to Unknown Phenotypes for gene: IL18 were set to Defects with susceptibility to mycobacterial infection (MSMD) |
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| COVID-19 research v0.36 | IL17A |
Ellen McDonagh gene: IL17A was added gene: IL17A was added to Viral susceptibility. Sources: Expert Review Red,GRID V2.0 Mode of inheritance for gene: IL17A was set to Unknown Phenotypes for gene: IL17A were set to Arthritis; Immunodeficiency 5 |
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| COVID-19 research v0.36 | IGHG2 |
Ellen McDonagh gene: IGHG2 was added gene: IGHG2 was added to Viral susceptibility. Sources: Expert Review Red,ESID Registry 20171117 Mode of inheritance for gene: IGHG2 was set to Unknown Phenotypes for gene: IGHG2 were set to Immunoglobulin chain deficiencies |
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| COVID-19 research v0.36 | GTF2H5 |
Ellen McDonagh gene: GTF2H5 was added gene: GTF2H5 was added to Viral susceptibility. Sources: North West GLH,NHS GMS,London North GLH Mode of inheritance for gene: GTF2H5 was set to Unknown |
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| COVID-19 research v0.36 | FPR3 |
Ellen McDonagh gene: FPR3 was added gene: FPR3 was added to Viral susceptibility. Sources: Expert Review Red,ESID Registry 20171117 Mode of inheritance for gene: FPR3 was set to Unknown Phenotypes for gene: FPR3 were set to Localized juvenile peridontitis |
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| COVID-19 research v0.36 | FPR2 |
Ellen McDonagh gene: FPR2 was added gene: FPR2 was added to Viral susceptibility. Sources: Expert Review Red,ESID Registry 20171117 Mode of inheritance for gene: FPR2 was set to Unknown Phenotypes for gene: FPR2 were set to Localized juvenile peridontitis |
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| COVID-19 research v0.36 | FCGRT |
Ellen McDonagh gene: FCGRT was added gene: FCGRT was added to Viral susceptibility. Sources: Expert Review Red,ESID Registry 20171117 Mode of inheritance for gene: FCGRT was set to Unknown Phenotypes for gene: FCGRT were set to Fc receptor deficiencies |
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| COVID-19 research v0.36 | FCGR2B |
Ellen McDonagh gene: FCGR2B was added gene: FCGR2B was added to Viral susceptibility. Sources: Expert Review Red,ESID Registry 20171117 Mode of inheritance for gene: FCGR2B was set to Unknown Phenotypes for gene: FCGR2B were set to Fc receptor deficiencies |
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| COVID-19 research v0.36 | FCGR2A |
Ellen McDonagh Mode of inheritance for gene FCGR2A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Unknown Added phenotypes Fc receptor deficiencies for gene: FCGR2A |
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| COVID-19 research v0.36 | FCGR1A |
Ellen McDonagh gene: FCGR1A was added gene: FCGR1A was added to Viral susceptibility. Sources: Expert Review Red,ESID Registry 20171117 Mode of inheritance for gene: FCGR1A was set to Unknown Phenotypes for gene: FCGR1A were set to Fc receptor deficiencies |
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| COVID-19 research v0.36 | FBF1 |
Ellen McDonagh gene: FBF1 was added gene: FBF1 was added to Viral susceptibility. Sources: Expert Review Red,Victorian Clinical Genetics Services Mode of inheritance for gene: FBF1 was set to Unknown |
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| COVID-19 research v0.36 | COLEC11 |
Ellen McDonagh gene: COLEC11 was added gene: COLEC11 was added to Viral susceptibility. Sources: Expert Review Red,ESID Registry 20171117 Mode of inheritance for gene: COLEC11 was set to Unknown Phenotypes for gene: COLEC11 were set to Mannan-binding lectin serine protease (MASP) deficiency |
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| COVID-19 research v0.36 | CNBP |
Ellen McDonagh gene: CNBP was added gene: CNBP was added to Viral susceptibility. Sources: Expert Review Red,ESID Registry 20171117 Mode of inheritance for gene: CNBP was set to Unknown Phenotypes for gene: CNBP were set to Steinert- myotonica dystrophia |
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| COVID-19 research v0.36 | CD4 |
Ellen McDonagh gene: CD4 was added gene: CD4 was added to Viral susceptibility. Sources: Expert Review Red,ESID Registry 20171117 Mode of inheritance for gene: CD4 was set to Unknown Phenotypes for gene: CD4 were set to Selective CD4 cell deficiency |
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| COVID-19 research v0.36 | PSMA3 |
Ellen McDonagh gene: PSMA3 was added gene: PSMA3 was added to Viral susceptibility. Sources: Victorian Clinical Genetics Services,North West GLH,NHS GMS,London North GLH,Expert Review Amber Mode of inheritance for gene: PSMA3 was set to Unknown Publications for gene: PSMA3 were set to 26524591 Phenotypes for gene: PSMA3 were set to CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome) |
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| COVID-19 research v0.36 | KDM6A |
Ellen McDonagh gene: KDM6A was added gene: KDM6A was added to Viral susceptibility. Sources: Expert Review Red,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: KDM6A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: KDM6A were set to 25142838; 25546742; 26411453; 32086639; 15887282; 15523604; 32048120 Phenotypes for gene: KDM6A were set to Combined immunodeficiencies with associated or syndromic features; Kabuki Syndrome 2 due to KDM6A deficiency; Typical facial abnormalities, cleft or high arched palate, skeletal abnormalities, short stature, intellectual disability, congenital heart defects, recurrent infections (otitis media, pneumonia) in 50% of patients. Autoimmunity may be present |
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| COVID-19 research v0.36 | XIAP |
Ellen McDonagh gene: XIAP was added gene: XIAP was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: XIAP was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: XIAP were set to 25943627; 21119115; 17080092; 21173700; 22228567 Phenotypes for gene: XIAP were set to Lymphoproliferative syndrome, X-linked, 2 (XLP2); inflammatory bowel disease; 300635; splenomegaly; Diseases of Immune Dysregulation; X-linked lymphoproliferative syndrome (XLP); haemophagocytic lymphohistiocytosis; Lymphoproliferative syndrome, X-linked, 2; EBV infection, Splenomegaly, lymphoproliferation, HLH, Colitis, IBD, hepatitis, Low iNKT cells, hypogammaglobulinemia |
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| COVID-19 research v0.36 | CYBB |
Ellen McDonagh gene: CYBB was added gene: CYBB was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CYBB was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: CYBB were set to 1710153; 2556453; 17293536 Phenotypes for gene: CYBB were set to Chronic granulomatous disease, X-linked, 306400; Defects with susceptibility to mycobacterial infection (MSMD); Congenital defects of phagocyte number or function; Immunodeficiency 34, mycobacteriosis, X-linked, 300645; Chronic granulomatous disease (CGD); Isolated susceptibility to mycobacteria; Infections, autoinflammatory phenotype, IBD, McLeod phenotype in patients with deletions extending into the contiguous Kell locus; Defects in Intrinsic and Innate Immunity |
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| COVID-19 research v0.36 | SH3KBP1 |
Ellen McDonagh gene: SH3KBP1 was added gene: SH3KBP1 was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: SH3KBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SH3KBP1 were set to 32086639; 32048120; 29636373 Phenotypes for gene: SH3KBP1 were set to Predominantly Antibody Deficiencies; Severe bacterial infections; SH3KBP1 (CIN85) deficiency; Immunodeficiency 61, 300310 |
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| COVID-19 research v0.36 | IRAK1 |
Ellen McDonagh gene: IRAK1 was added gene: IRAK1 was added to Viral susceptibility. Sources: Expert Review Red,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: IRAK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: IRAK1 were set to 32086639; 32048120; 28069966 Phenotypes for gene: IRAK1 were set to Bacterial infections, X-linked MECP2 deficiency-related syndrome due to a large de novo Xq28 chromosomal deletion encompassing both MECP2 and IRAK1; Defects in Intrinsic and Innate Immunity |
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| COVID-19 research v0.36 | WAS |
Ellen McDonagh gene: WAS was added gene: WAS was added to Viral susceptibility. Sources: Expert Review Green,Combined B and T cell defect v1.12,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,Congenital neutropaenia v1.22,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: WAS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: WAS were set to 11242115; 16804117 Phenotypes for gene: WAS were set to Wiskott-Aldrich syndrome (WAS); Combined immunodeficiencies with associated or syndromic features; Neutropenia, myeloid maturation arrest, monocytopenia, variable lymphoid anomalies; Congenital neutropenia; X-linked thrombocytopenia; Congenital defects of phagocyte number or function; X-linked thrombocytopenia with mutations in WASP; Thrombocytopenia with small platelets, recurrent bacterial and viral infections, bloody diarrhea, eczema, lymphoma, autoimmune disease, IgA nephropathy, vasculitis; Neutropenia, severe congenital, X-linked, 300299; XL thrombocytopenia is a mild form of WAS, and XL neutropenia is caused by missense mutations in the GTPase binding domain of WASp; Wiskott-Aldrich syndrome Mode of pathogenicity for gene: WAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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| COVID-19 research v0.36 | TAZ |
Ellen McDonagh gene: TAZ was added gene: TAZ was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,Congenital neutropaenia v1.22,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TAZ were set to Barth syndrome; 3-methylglutaconic aciduria, type II, 302060; Congenital defects of phagocyte number or function; Cardiomyopathy, myopathy, growth retardation, neutropenia; Cardioskeletal myopathy with neutropenia and abnormal mitochondria |
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| COVID-19 research v0.36 | SH2D1A |
Ellen McDonagh gene: SH2D1A was added gene: SH2D1A was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: SH2D1A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SH2D1A were set to 10598819; 29670631; 10556288; 11049992; 9774102; 10694488; 9771704 Phenotypes for gene: SH2D1A were set to EBV, HLH, Lymphoproliferation, Aplastic anaemia, Lymphoma. Hypogammaglobulinemia, Absent iNKT cells; Lymphoproliferative syndrome, X-linked, 1 308240; Diseases of Immune Dysregulation; X-linked lymphoproliferative syndrome (XLP); Lymphoproliferative syndrome, X-linked, 1 (XLP1) |
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| COVID-19 research v0.36 | POLA1 |
Ellen McDonagh gene: POLA1 was added gene: POLA1 was added to Viral susceptibility. Sources: Expert Review Green,North West GLH,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: POLA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: POLA1 were set to 27019227 Phenotypes for gene: POLA1 were set to Hyperpigmentation, characteristic facies, lung and GI involvement; Autoinflammatory Disorders; Pigmentary disorder, reticulate, with systemic manifestations, X-linked 301220; X-linked reticulate pigmentary disorder; x-linked cutaneous amyloidosis with systemic features |
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| COVID-19 research v0.36 | MSN |
Ellen McDonagh Added phenotypes Immunodeficiencies affecting cellular and humoral immunity; Recurrent infections with bacteria, varicella, neutropenia; Immunodeficiency 50, 300988; Combined immunodeficiency for gene: MSN Publications for gene MSN were updated from to 29556235; 27405666 |
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| COVID-19 research v0.36 | MAGT1 |
Ellen McDonagh gene: MAGT1 was added gene: MAGT1 was added to Viral susceptibility. Sources: Expert Review Green,Combined B and T cell defect v1.12,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: MAGT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MAGT1 were set to 21796205; 25504528; 25205404; 24550228; 23846901; 27095930; 23871722; 21983175; 25956530 Phenotypes for gene: MAGT1 were set to Chronic active EBV, lymphoproliferation, combined immunodeficiency, impaired t cell function; Combined immunodeficiency; Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia; Immunodeficiency, X-linked, with magnesium defect; Diseases of Immune Dysregulation; Epstein-Barr virus infection and neoplasia (XMEN); EBV infection, lymphoma, viral infections, respiratory and GI infections; XMEN syndrome |
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| COVID-19 research v0.36 | IL2RG |
Ellen McDonagh gene: IL2RG was added gene: IL2RG was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,SCID v1.6,IUIS Classification February 2018 Mode of inheritance for gene: IL2RG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IL2RG were set to Severe combined immunodeficiency, X-linked; Combined immunodeficiency, X-linked, moderate; Severe Combined Immune Deficiency; Atypical Severe Combined Immunodeficiency (Atypical SCID); Immunodeficiencies affecting cellular and humoral immunity; SCID; Severe combined immunodeficiency, X-linked, 300400; T-B+ SCID; SCID (x-linked); Omenn syndrome; Severe combined immunodeficiency (SCID); Low NK |
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| COVID-19 research v0.36 | IKBKG |
Ellen McDonagh gene: IKBKG was added gene: IKBKG was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: IKBKG were set to 11047757 Phenotypes for gene: IKBKG were set to Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301; Immunodeficiency 33, 300636; Invasive pneumococcal disease, recurrent isolated, 2,300640; Defects of TLR/NFkappa-B signalling; Anhidrotic ectodermal dysplasia (in some), various infections (bacteria, mycobacteria, viruses and fungi), colitis, conical teeth, variable defects of skin, hair and teeth, monocyte dysfunction; Ectodermal dysplasia, hypohidrotic, with immune deficiency 300291; Combined immunodeficiencies with associated or syndromic features; Immunodeficiency, isolated, 300584 |
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| COVID-19 research v0.36 | GATA1 |
Ellen McDonagh gene: GATA1 was added gene: GATA1 was added to Viral susceptibility. Sources: Expert Review Green,North West GLH,Congenital neutropaenia v1.22,NHS GMS,London North GLH Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: GATA1 were set to 16783379; 22706301 Phenotypes for gene: GATA1 were set to neutropenia; dyserythropoietic anaemia; thrombocytopenia; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835 |
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| COVID-19 research v0.36 | G6PD |
Ellen McDonagh Mode of inheritance for gene G6PD was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Infections; haemolytic anaemia; Congenital defects of phagocyte number or function; chronic granulomatous disease-like susceptibility to infection; Glucose-6-phosphate dehydrogenase deficiency (G6PD) for gene: G6PD Publications for gene G6PD were updated from 26694452; 18269318; 27458052; 27914961 to 18269318; 3681550; 26694452; 12130518; 27914961; 27458052 |
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| COVID-19 research v0.36 | FOXP3 |
Ellen McDonagh gene: FOXP3 was added gene: FOXP3 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: FOXP3 were set to 17635943; 11120765; 11295725; 16741580; 14671208 Phenotypes for gene: FOXP3 were set to FOXP3 deficiency (IPEX); Immune dysregulation polyendocrinopathy enteropathy X-linked syndrome; Diseases of Immune Dysregulation; Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790; IPEX; Autoimmune enteropathy, early onset diabetes, hyroiditis hemolytic anemia, thrombocytopenia, eczema, elevated IgE, IgA |
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| COVID-19 research v0.36 | DKC1 |
Ellen McDonagh gene: DKC1 was added gene: DKC1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: DKC1 were set to 9590285; 10583221; 10217077; 9590276 Phenotypes for gene: DKC1 were set to Dyskeratosis congenita, X-linked 305000; Severe phenotype with DD and cerebellar hypoplasia; Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients; Combined immunodeficiencies with associated or syndromic features; Hoyeraal-Hreidarsson syndrome; Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, recurrent infections |
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| COVID-19 research v0.36 | CFP |
Ellen McDonagh gene: CFP was added gene: CFP was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CFP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: CFP were set to 22229731; 10909851; 8530058; 7151327; 6903190 Phenotypes for gene: CFP were set to Neisserial infections; Complement Deficiencies; Properdin deficiency; Properdin P factor complement deficiency (PFC) |
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| COVID-19 research v0.36 | CD40LG |
Ellen McDonagh gene: CD40LG was added gene: CD40LG was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CD40LG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: CD40LG were set to 7678782; 7586644; 11875495; 20301576; 7882172; 17146684; 8094231; 7679206; 7679801 Phenotypes for gene: CD40LG were set to Hyper-IGM immunodeficiency, X-linked; HIGM; Hyper-IGM syndrome; Hyper-IgM syndrome type 1; Neutropenia, thrombocytopenia, hemolytic anemia, opportunistic infections, biliary tract and liver disease, Cryptosporidium infections; XHIM; Immunodeficiency, X-linked, with hyper-IgM; Immunodeficiencies affecting cellular and humoral immunity; Hyper-IgM syndrome due to CD40 ligand deficiency; Hyper-IgM syndrome due to CD40L deficiency; IHIS; HIGM1; IMD3; CSR defects and Hyper IgM (HIGM) syndromes; Immunodeficiency 3; CD40 ligand deficiency |
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| COVID-19 research v0.36 | BTK |
Ellen McDonagh gene: BTK was added gene: BTK was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,A- or hypo-gammaglobulinaemia v1.25,IUIS Classification February 2018 Mode of inheritance for gene: BTK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: BTK were set to 20301626 Phenotypes for gene: BTK were set to Agammaglobulinemia, X-linked 1, 300755; Agammaglobulinemia, X-linked; Agammaglobulinemia, X-linked 1 (XLA); Agammaglobulinemia; Severe bacterial infections, normal numbers of pro-B cells; agammaglobulinaemia; Agammaglobulinemia and isolated hormone deficiency, 307200; Agammaglobulinemia and isolated hormone deficiency; Predominantly Antibody Deficiencies; CVID |
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| COVID-19 research v0.36 | ATP6AP1 |
Ellen McDonagh gene: ATP6AP1 was added gene: ATP6AP1 was added to Viral susceptibility. Sources: Expert Review Green,North West GLH,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: ATP6AP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ATP6AP1 were set to 27231034 Phenotypes for gene: ATP6AP1 were set to Immunodeficiency and hepatopathy with or without neurologic features; Hepatopathy, leukopenia, low copper; Predominantly Antibody Deficiencies; Immunodeficiency 47, 300972 |
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| COVID-19 research v0.36 | STAT5A |
Ellen McDonagh gene: STAT5A was added gene: STAT5A was added to Viral susceptibility. Sources: Expert Review Red,ESID Registry 20171117,GOSH PID v.8.0 Mode of inheritance for gene: STAT5A was set to Unknown Publications for gene: STAT5A were set to 16418296 Phenotypes for gene: STAT5A were set to Defects with susceptibility to mycobacterial infection (MSMD); Combined immunodeficiency |
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| COVID-19 research v0.36 | SART3 |
Ellen McDonagh gene: SART3 was added gene: SART3 was added to Viral susceptibility. Sources: Expert Review Red,GRID V2.0 Mode of inheritance for gene: SART3 was set to Unknown Phenotypes for gene: SART3 were set to Porokeratosis |
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| COVID-19 research v0.36 | ITGAM |
Ellen McDonagh gene: ITGAM was added gene: ITGAM was added to Viral susceptibility. Sources: Expert Review Red,Victorian Clinical Genetics Services,GRID V2.0 Mode of inheritance for gene: ITGAM was set to Unknown Phenotypes for gene: ITGAM were set to Systemic lupus erythematous |
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| COVID-19 research v0.36 | FCGR3B |
Ellen McDonagh gene: FCGR3B was added gene: FCGR3B was added to Viral susceptibility. Sources: Expert Review Red,ESID Registry 20171117,GRID V2.0,Congenital neutropaenia v1.22 Mode of inheritance for gene: FCGR3B was set to Unknown Publications for gene: FCGR3B were set to 1978690 Phenotypes for gene: FCGR3B were set to Neutropenia,alloimmuneneonatal; Neutropenia, autoimmune neonatal; Neutropenia, alloimmune neonatal; Fc receptor deficiencies |
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| COVID-19 research v0.36 | ERCC2 |
Ellen McDonagh gene: ERCC2 was added gene: ERCC2 was added to Viral susceptibility. Sources: Victorian Clinical Genetics Services,North West GLH,Other,NHS GMS,London North GLH,Expert Review Red Mode of inheritance for gene: ERCC2 was set to Unknown Publications for gene: ERCC2 were set to 11737070 Phenotypes for gene: ERCC2 were set to Combined immunodeficiency (CID) in a child affected by trichothiodystrophy (TTD); CD4 + lymphopenia |
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| COVID-19 research v0.36 | ELF4 |
Ellen McDonagh gene: ELF4 was added gene: ELF4 was added to Viral susceptibility. Sources: Expert Review Red,A- or hypo-gammaglobulinaemia v1.25 Mode of inheritance for gene: ELF4 was set to Unknown Publications for gene: ELF4 were set to 16264330 Phenotypes for gene: ELF4 were set to X-linked hypogammaglobulinemia with isolated growth hormone deficiency |
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| COVID-19 research v0.36 | KRAS |
Ellen McDonagh gene: KRAS was added gene: KRAS was added to Viral susceptibility. Sources: GRID V2.0,ESID Registry 20171117,Expert Review Amber Mode of inheritance for gene: KRAS was set to Unknown Publications for gene: KRAS were set to 21079152; 21063026 Phenotypes for gene: KRAS were set to RAS associated lymphoproliferative disease, 614470; RALD Mode of pathogenicity for gene: KRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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| COVID-19 research v0.36 | NRAS |
Ellen McDonagh gene: NRAS was added gene: NRAS was added to Viral susceptibility. Sources: ESID Registry 20171117,North West GLH,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,Expert Review Amber Mode of inheritance for gene: NRAS was set to Unknown Publications for gene: NRAS were set to 21079152; 5896945; 17517660; 29141318 Phenotypes for gene: NRAS were set to Ras associated lymphoproliferative disease (RALD); Autoimmune lymphoproliferative syndrome type IV; RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic 614470 |
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| COVID-19 research v0.36 | LRRC8A |
Ellen McDonagh gene: LRRC8A was added gene: LRRC8A was added to Viral susceptibility. Sources: Expert Review Red,ESID Registry 20171117,A- or hypo-gammaglobulinaemia v1.25 Mode of inheritance for gene: LRRC8A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LRRC8A were set to Agammaglobulinemia 5, 613506; Agammaglobulinemia |
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| COVID-19 research v0.36 | STAT3 |
Ellen McDonagh gene: STAT3 was added gene: STAT3 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: STAT3 were set to 17676033; 17881745; 25038750; 25359994 Phenotypes for gene: STAT3 were set to Hyper-IgE recurrent infection syndrome 147060; Hyper IgE syndrome (HIES); Diseases of Immune Dysregulation; Early-onset multi-organ autoimmune disease; Autoimmune disease, multisystem, infantile-onset, 1 615952; Combined immunodeficiencies with associated or syndromic features; Autoimmune disease, multisystem, infantile-onset Mode of pathogenicity for gene: STAT3 was set to Other - please provide details in the comments |
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| COVID-19 research v0.36 | POMP |
Ellen McDonagh gene: POMP was added gene: POMP was added to Viral susceptibility. Sources: North West GLH,Expert Review Green,NHS GMS,London North GLH Mode of inheritance for gene: POMP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POMP were set to 29805043; 26524591 Phenotypes for gene: POMP were set to Proteasome-associated autoinflammatory syndrome 2, 618048; CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome); combined immunodeficiency with autoinflammation |
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| COVID-19 research v0.36 | PIK3CD |
Ellen McDonagh gene: PIK3CD was added gene: PIK3CD was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,A- or hypo-gammaglobulinaemia v1.25,IUIS Classification February 2018 Mode of inheritance for gene: PIK3CD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PIK3CD were set to 24165795; 24136356; 29226301 Phenotypes for gene: PIK3CD were set to Combined immunodeficiency; Activated PI3K-delta syndrome (APDS); Unclassified antibody deficiency; decreased or absent pro-B cells, EBV; Predominantly Antibody Deficiencies; sinopulmonary infections, dysgammaglobulinaemia, lymphadenopathy, nodular lymphoid hyperplasia and herpesviremia; Severe bacterial infections; Immunodeficiency 14,615513 Mode of pathogenicity for gene: PIK3CD was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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| COVID-19 research v0.36 | IKZF1 |
Ellen McDonagh gene: IKZF1 was added gene: IKZF1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,A- or hypo-gammaglobulinaemia v1.25,IUIS Classification February 2018 Mode of inheritance for gene: IKZF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IKZF1 were set to 29889099; 21548011; 26981933 Phenotypes for gene: IKZF1 were set to Immunodeficiency, common variable, 13, 616873; IKAROS deficiency; Immunodeficiency, common variable 13; Predominantly Antibody Deficiencies; Recurrent sinopulmonary infections |
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| COVID-19 research v0.36 | GFI1 |
Ellen McDonagh gene: GFI1 was added gene: GFI1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,Congenital neutropaenia v1.22,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: GFI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GFI1 were set to Neutropenia, severe congenital 2; Congenital neutropenia; Severe congenital 2, autosomal dominant, 613107; Congenital defects of phagocyte number or function; Neutropenia, nonimmune chronic idiopathic, of adults, 607847; Severe congenital neutropenia; B/T lymphopenia; Chronic non-immune neutropenia of adults |
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| COVID-19 research v0.36 | F12 |
Ellen McDonagh gene: F12 was added gene: F12 was added to Viral susceptibility. Sources: Expert Review Green,Victorian Clinical Genetics Services,North West GLH,GRID V2.0,NHS GMS,London North GLH Mode of inheritance for gene: F12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: F12 were set to 17186468; 16638441; 19178938 Phenotypes for gene: F12 were set to hereditary angioedema; Angioedema, Hereditary, Type III Mode of pathogenicity for gene: F12 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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| COVID-19 research v0.36 | CTLA4 |
Ellen McDonagh gene: CTLA4 was added gene: CTLA4 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,A- or hypo-gammaglobulinaemia v1.25,IUIS Classification February 2018 Mode of inheritance for gene: CTLA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CTLA4 were set to 25213377; 25329329 Phenotypes for gene: CTLA4 were set to Autoimmune lymphoproliferative syndrome, type V; interstitual lung disease; autoimmunity; lymphadenopathy; T cell lymphopenia; Combined immunodeficiency; Immune dysregulation; a broad range of autoimmune phenomena have been described along with polyclonal lymphocytic infiltrates. Susceptibility to infection and hypogammaglobulinaemia are not usually present in isolation; Diseases of Immune Dysregulation; Early-onset multi-organ autoimmune disease; Autoimmune lymphoproliferative syndrome, type V 616100; hypogammaglobulinaemia; enteropathy; Autoimmune cytopenias, enteropathy, interstitial lung disease, extra-lymphoid lymphocytic infiltration recurrent infections; CVID |
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| COVID-19 research v0.36 | CARD14 |
Ellen McDonagh gene: CARD14 was added gene: CARD14 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CARD14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CARD14 were set to 23648549; 23067081; 22703878; 29689250; 29980436; 29704870; 23711932; 22521418; 30248356 Phenotypes for gene: CARD14 were set to Other autoinflammatory diseases with known genetic defect; Psoriasis 2, 602723; Autoinflammatory Disorders; Pityriasis rubra pilaris,173200; immune dysregulation; CARD14 mediated psoriasis; Psoriasis |
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| COVID-19 research v0.36 | ISCA-37446-Loss |
Ellen McDonagh Region: ISCA-37446-Loss was added Region: ISCA-37446-Loss was added to Viral susceptibility. Sources: Expert Review Green,ClinGen Mode of inheritance for Region: ISCA-37446-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for Region: ISCA-37446-Loss were set to 188400; clefting; Velocardiofacial syndrome; neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells; cardiac malformations; Hearing deficits; DiGeorge syndrome; micrognathia |
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| COVID-19 research v0.36 | ISCA-37433-Loss |
Ellen McDonagh Region: ISCA-37433-Loss was added Region: ISCA-37433-Loss was added to Viral susceptibility. Sources: Expert Review Green,ClinGen Mode of inheritance for Region: ISCA-37433-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37433-Loss were set to 20301696; 15889418; 15545748 Phenotypes for Region: ISCA-37433-Loss were set to diaphragmatic hernia; facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay; 192430; 188400; 22q11.2 deletion syndrome; renal anomalies; cleft palate, polydactyly; congenital heart disease; Learning difficulties; Velocardiofacial syndrome; polyhydramnios; DiGeorge syndrome; immune deficiency |
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| COVID-19 research v0.36 | UNC119 |
Ellen McDonagh gene: UNC119 was added gene: UNC119 was added to Viral susceptibility. Sources: Expert Review Red,ESID Registry 20171117,GRID V2.0 Mode of inheritance for gene: UNC119 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: UNC119 were set to 22184408 Phenotypes for gene: UNC119 were set to Immunodeficiency 13 615518; Combined immunodeficiency; Immunodeficiency 13/ UNC119 deficiency |
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| COVID-19 research v0.36 | TRAF3 |
Ellen McDonagh Mode of inheritance for gene TRAF3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Herpetic encephalitis (HSE); Herpes simplex virus 1 encephalitis; Defects in Intrinsic and Innate Immunity; Defects in intrinsic and innate immunity; {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5},614849; Herpes simplex encephalitis, susceptibility to, 3 for gene: TRAF3 Publications for gene TRAF3 were updated from to 24378539; 20832341; 32086639; 32048120; 11296228 |
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| COVID-19 research v0.36 | TOP2B |
Ellen McDonagh gene: TOP2B was added gene: TOP2B was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: TOP2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TOP2B were set to 31409799; 32086639; 32048120 Phenotypes for gene: TOP2B were set to Recurrent infections, facial dysmorphism, limb anomalies; Hoffman syndrome/TOP2B deficiency; Predominantly Antibody Deficiencies |
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| COVID-19 research v0.36 | TNFSF12 |
Ellen McDonagh gene: TNFSF12 was added gene: TNFSF12 was added to Viral susceptibility. Sources: ESID Registry 20171117,Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification December 2019,Expert Review Red,IUIS Classification February 2018 Mode of inheritance for gene: TNFSF12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TNFSF12 were set to 23493554; 32086639; 32048120 Phenotypes for gene: TNFSF12 were set to Immunodeficiency, common variable with lack of anti-pneumococcal antibody; Common variable immunodeficiency disorders (CVID); Predominantly Antibody Deficiencies; Pneumonia, bacterial infections, warts, thrombocytopenia. neutropenia; Pneumonia, bacterial infections, warts, thrombocytopenia |
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| COVID-19 research v0.36 | THBD |
Ellen McDonagh gene: THBD was added gene: THBD was added to Viral susceptibility. Sources: ESID Registry 20171117,Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification December 2019,Expert Review Red,IUIS Classification February 2018 Mode of inheritance for gene: THBD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: THBD were set to 32086639; 32048120 Phenotypes for gene: THBD were set to Complement Deficiencies; Thrombomodulin deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 6; Atypical hemolytic-uremic syndrome |
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| COVID-19 research v0.36 | TGFBR2 |
Ellen McDonagh gene: TGFBR2 was added gene: TGFBR2 was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TGFBR2 were set to 32086639; 32048120; 29392890 Phenotypes for gene: TGFBR2 were set to Recurrent respiratory infections, eczema, food allergies, hyperextensible joints, scoliosis, retention of primary teeths, aortic anuerysms; Combined immunodeficiencies with associated or syndromic features; ALPS-FAS |
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| COVID-19 research v0.36 | TGFBR1 |
Ellen McDonagh gene: TGFBR1 was added gene: TGFBR1 was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TGFBR1 were set to 32086639; 32048120; 29392890 Phenotypes for gene: TGFBR1 were set to Loeys-Dietz syndrome 1, 609192; Loeys Dietz syndrome due to TGFBR1 deficiency; Combined immunodeficiencies with associated or syndromic features; Recurrent respiratory infectons, eczema, food allergies, hyperextensible joints, scoliosis, retention of primary teeths, aortic anuerysms |
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| COVID-19 research v0.36 | SRP54 |
Ellen McDonagh gene: SRP54 was added gene: SRP54 was added to Viral susceptibility. Sources: IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: SRP54 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SRP54 were set to 32086639; 28972538; 29914977; 32048120 Phenotypes for gene: SRP54 were set to Schwachman Diamond features; Congenital defects of phagocyte number or function |
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| COVID-19 research v0.36 | SNORA31 |
Ellen McDonagh gene: SNORA31 was added gene: SNORA31 was added to Viral susceptibility. Sources: Expert Review Red,Literature Mode of inheritance for gene: SNORA31 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SNORA31 were set to 31806906 Phenotypes for gene: SNORA31 were set to Herpes simplex encephalitis |
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| COVID-19 research v0.36 | SH3BP2 |
Ellen McDonagh gene: SH3BP2 was added gene: SH3BP2 was added to Viral susceptibility. Sources: ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification December 2019,Expert Review Red,IUIS Classification February 2018 Mode of inheritance for gene: SH3BP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SH3BP2 were set to 22640988; 28914985; 29669173; 11381256; 32086639; 32048120 Phenotypes for gene: SH3BP2 were set to Other autoinflammatory diseases with known genetic defect; Autoinflammatory Disorders; Cherubism 118400; Bone degeneration in jaws |
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| COVID-19 research v0.36 | SEMA3E |
Ellen McDonagh gene: SEMA3E was added gene: SEMA3E was added to Viral susceptibility. Sources: ESID Registry 20171117,Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification December 2019,Expert Review Red,IUIS Classification February 2018 Mode of inheritance for gene: SEMA3E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SEMA3E were set to 21055784; 32086639; 1735828; 12144540; 32048120 Phenotypes for gene: SEMA3E were set to CHARGE syndrome; immune-mediated cerebellar ataxia; Coloboma, heart anomaly, choanal atresia, intellectual retardation, genital and ear anomalies, CNS malformation, some are SCID-like and have low TRECs; Charge syndrome 214800; Combined immunodeficiencies with associated or syndromic features |
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| COVID-19 research v0.36 | SEC61A1 |
Ellen McDonagh gene: SEC61A1 was added gene: SEC61A1 was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: SEC61A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SEC61A1 were set to 28782633; 32086639; 32048120 Phenotypes for gene: SEC61A1 were set to Severe recurrent respiratory tract infections; Predominantly Antibody Deficiencies; Hyperuricemic nephropathy, familial juvenile, 4, 617056; SEC61A1 deficiency |
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| COVID-19 research v0.36 | SAMD3 |
Ellen McDonagh gene: SAMD3 was added gene: SAMD3 was added to Viral susceptibility. Sources: Expert Review Red,NHS GMS,London North GLH Mode of inheritance for gene: SAMD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SAMD3 were set to HLH, abnormal GRA |
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| COVID-19 research v0.36 | RET |
Ellen McDonagh gene: RET was added gene: RET was added to Viral susceptibility. Sources: North West GLH,NHS GMS,GOSH PID v.8.0,London North GLH,Expert Review Red Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RET were set to 12086152; 9497256 Phenotypes for gene: RET were set to Central hypoventilation syndrome, congenital 209880 |
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| COVID-19 research v0.36 | RELA |
Ellen McDonagh gene: RELA was added gene: RELA was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: RELA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RELA were set to 28600438; 32086639; 32048120; 29305315 Phenotypes for gene: RELA were set to RelA haplosufficiency; Mucosal ulceration, impaired NFkB activation; Mucocutaneous ulceration, chronic, 618287; Immunodeficiencies affecting cellular and humoral immunity |
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| COVID-19 research v0.36 | RANBP2 |
Ellen McDonagh gene: RANBP2 was added gene: RANBP2 was added to Viral susceptibility. Sources: North West GLH,NHS GMS,London North GLH,IUIS Classification December 2019,IUIS Classification February 2018 Mode of inheritance for gene: RANBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RANBP2 were set to 32086639; 32048120 Phenotypes for gene: RANBP2 were set to Fever induces acute encephalopathy; Defects in intrinsic and innate immunity; Defects in Intrinsic and Innate Immunity |
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| COVID-19 research v0.36 | PTPN22 |
Ellen McDonagh gene: PTPN22 was added gene: PTPN22 was added to Viral susceptibility. Sources: North West GLH,Expert Review Red,NHS GMS,London North GLH Mode of inheritance for gene: PTPN22 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PTPN22 were set to Lupus susceptibility; {Systemic lupus erythematosus susceptibility to} |
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| COVID-19 research v0.36 | PSEN1 |
Ellen McDonagh gene: PSEN1 was added gene: PSEN1 was added to Viral susceptibility. Sources: Expert Review Red,IUIS Classification February 2018 Mode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PSEN1 were set to 20929727 Phenotypes for gene: PSEN1 were set to Hidradenitis suppurative with cutaneous hyperpigmentation; Acne inversa, familial, 3 613737; Defects in Intrinsic and Innate Immunity |
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| COVID-19 research v0.36 | OAS1 |
Ellen McDonagh gene: OAS1 was added gene: OAS1 was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: OAS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: OAS1 were set to 32086639; 29455859; 32048120 Phenotypes for gene: OAS1 were set to OAS1 GOF; Autoinflammatory Disorders; Pulmonary alveolar proteinosis, skin rash |
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| COVID-19 research v0.36 | NFE2L2 |
Ellen McDonagh gene: NFE2L2 was added gene: NFE2L2 was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: NFE2L2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NFE2L2 were set to 32086639; 32048120; 29018201 Phenotypes for gene: NFE2L2 were set to Recurrent respiratory and skin infections, growth retardation, , developmental delay; increased expression of stress response genes; Immunodeficiency, developmental delay, and hypohomocysteinemia, 617744; white matter cerebral lesions, increased level of homocysteine; Combined immunodeficiencies with associated or syndromic features; NFE2L2 GOF |
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| COVID-19 research v0.36 | NFAT5 |
Ellen McDonagh gene: NFAT5 was added gene: NFAT5 was added to Viral susceptibility. Sources: Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification December 2019,Expert Review Red,IUIS Classification February 2018 Mode of inheritance for gene: NFAT5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NFAT5 were set to 32086639; 32048120 Phenotypes for gene: NFAT5 were set to NFAT5 haploinsufficieny; IBD, recurrent sinopulmonary infections; Diseases of Immune Dysregulation |
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| COVID-19 research v0.36 | LYZ |
Ellen McDonagh gene: LYZ was added gene: LYZ was added to Viral susceptibility. Sources: Expert Review Red,NHS GMS,London North GLH Mode of inheritance for gene: LYZ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: LYZ were set to Amyloidosis, renal, 105200 |
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| COVID-19 research v0.36 | KMT2D |
Ellen McDonagh gene: KMT2D was added gene: KMT2D was added to Viral susceptibility. Sources: Expert Review Red,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KMT2D were set to 25142838; 26411453; 32086639; 15887282; 15523604; 32048120 Phenotypes for gene: KMT2D were set to Kabuki syndrome 1, 147920; Combined immunodeficiencies with associated or syndromic features; Typical facial abnormalities, cleft or high arched palate, skeletal abnormalities, short stature, intellectual disability, congenital heart defects, recurrent infections (otitis media, pneumonia) in 50% of patients. Autoimmunity may be present |
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| COVID-19 research v0.36 | KMT2A |
Ellen McDonagh gene: KMT2A was added gene: KMT2A was added to Viral susceptibility. Sources: Expert Review Red,ESID Registry 20171117,IUIS Classification December 2019 Mode of inheritance for gene: KMT2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KMT2A were set to 32086639; 32048120; 27320412 Phenotypes for gene: KMT2A were set to Wiedemann-Steiner syndrome with Congenital immunodeficiency; Combined immunodeficiencies with associated or syndromic features; Unclassified antibody deficiency; Respiratory infections, short stature, hypertelorism, hairy elbows, developmental delay, intellectual disability |
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| COVID-19 research v0.36 | JAK1 |
Ellen McDonagh gene: JAK1 was added gene: JAK1 was added to Viral susceptibility. Sources: Expert Review Red,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: JAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: JAK1 were set to 28111307; 32086639; 32048120 Phenotypes for gene: JAK1 were set to Hypereosinophilic syndrome; HSM, eosinophilia, eosinophilic enteritis, thyroid disease, poor growth, viral infections; Diseases of Immune Dysregulation; Susceptibility to mycobacteria and viruses, urothelial carcinoma; Defects in Intrinsic and Innate Immunity; HSM, eosinophilic enteritis, thyroid disease, poor growth, viral infections Mode of pathogenicity for gene: JAK1 was set to Other - please provide details in the comments |
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| COVID-19 research v0.36 | IRF2BP2 |
Ellen McDonagh gene: IRF2BP2 was added gene: IRF2BP2 was added to Viral susceptibility. Sources: Expert Review Red,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: IRF2BP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: IRF2BP2 were set to 27016798; 32086639; 32048120 Phenotypes for gene: IRF2BP2 were set to Recurrent infections, possible autoimmunity and inflammatory disease; Predominantly Antibody Deficiencies; CVID |
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| COVID-19 research v0.36 | IL31RA |
Ellen McDonagh gene: IL31RA was added gene: IL31RA was added to Viral susceptibility. Sources: Expert Review Red,NHS GMS,London North GLH Mode of inheritance for gene: IL31RA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: IL31RA were set to ?Amyloidosis, primary localized cutaneous 2, 613955 |
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| COVID-19 research v0.36 | ERBIN |
Ellen McDonagh gene: ERBIN was added gene: ERBIN was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: ERBIN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ERBIN were set to 28126831; 32086639; 32048120 Phenotypes for gene: ERBIN were set to ERBIN deficiency; Combined immunodeficiencies with associated or syndromic features; Recurrent respiratory infections, susceptibility to S. aureus, eczema, hyperextensible joints, scoliosis, arterial dilatation in some |
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| COVID-19 research v0.36 | BCL11B |
Ellen McDonagh gene: BCL11B was added gene: BCL11B was added to Viral susceptibility. Sources: Expert Review Red,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: BCL11B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BCL11B were set to 29296816; 32086639; 32048120; 27959755 Phenotypes for gene: BCL11B were set to Combined immunodeficiencies with associated or syndromic features; leaky SCID; ?Immunodeficiency 49, 617237; Immunodeficiencies affecting cellular and humoral immunity; Congenital abnormalities, neonatal teeth, dysmorphic facies, absent corpus callosum, neurocognitive deficits |
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| COVID-19 research v0.36 | APOL1 |
Ellen McDonagh gene: APOL1 was added gene: APOL1 was added to Viral susceptibility. Sources: ESID Registry 20171117,Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification December 2019,Expert Review Red,IUIS Classification February 2018 Mode of inheritance for gene: APOL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: APOL1 were set to 16720107; 15894515; 25100047; 28827791; 32086639; 29470556; 29077717; 32048120; 28537557 Phenotypes for gene: APOL1 were set to Defects in Intrinsic and Innate Immunity; Trypanosomiasis, susceptibility to; Trypanosomias; Trypanosomiasis |
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| COVID-19 research v0.36 | ACTB |
Ellen McDonagh gene: ACTB was added gene: ACTB was added to Viral susceptibility. Sources: ESID Registry 20171117,Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification December 2019,Expert Review Red,IUIS Classification February 2018 Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ACTB were set to 32086639; 32048120; 10411937 Phenotypes for gene: ACTB were set to Congenital defects of phagocyte number or function; neutrophil dysfunction; Mental retardation, short stature; Actin beta deficiency (ACTB); Phagocytic disorder; Poor neutrophil chemotaxis, oxidative burst and actin remodeling. Thrombocytopenia; Baraitser-Winter syndrome 1, 243310 |
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| COVID-19 research v0.36 | TINF2 |
Ellen McDonagh gene: TINF2 was added gene: TINF2 was added to Viral susceptibility. Sources: ESID Registry 20171117,Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TINF2 were set to 18252230; 21199492; 21477109; 18979121; 27033759; 18669893; 29742735 Phenotypes for gene: TINF2 were set to microcephaly, neurodevelopmental delay exudative retinopathy; Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay |
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| COVID-19 research v0.36 | TERC |
Ellen McDonagh gene: TERC was added gene: TERC was added to Viral susceptibility. Sources: ESID Registry 20171117,Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: TERC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TERC were set to 16332973; 32086639; 12525685; 32048120; 11574891 Phenotypes for gene: TERC were set to Dyskeratosis congenita; Bone marrow failure; Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; Dyskeratosis congenita 1; Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients; Combined immunodeficiencies with associated or syndromic features; Hoyeraal-Hreidarsson syndrome; microcephaly, neurodevelopmental delay |
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| COVID-19 research v0.36 | TBX1 |
Ellen McDonagh gene: TBX1 was added gene: TBX1 was added to Viral susceptibility. Sources: ESID Registry 20171117,Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification December 2019,SCID v1.6,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: TBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TBX1 were set to 11242110; 24198816; 14585638; 32086639; 32048120 Phenotypes for gene: TBX1 were set to Hypoparathyroidism, conotruncal cardiac malformation, velopalatal insufficiency, abnormal facies, intellectual disability; DiGeorge syndrome 188400; Di George syndrome; T-B+ SCID; Severe combined immunodeficiency (SCID); Combined immunodeficiencies with associated or syndromic features |
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| COVID-19 research v0.36 | SAMD9L |
Ellen McDonagh gene: SAMD9L was added gene: SAMD9L was added to Viral susceptibility. Sources: North West GLH,NHS GMS,London North GLH,IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: SAMD9L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SAMD9L were set to 32086639; 32048120; 28202457 Phenotypes for gene: SAMD9L were set to Cytopenia, predisposition to MDS with chromosome 7 aberrations, immunodeficiency, and progressive cerebellar dysfunction; Combined immunodeficiencies with associated or syndromic features; MDS, neurological features; Bone marrow failure |
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| COVID-19 research v0.36 | SAMD9 |
Ellen McDonagh gene: SAMD9 was added gene: SAMD9 was added to Viral susceptibility. Sources: IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: SAMD9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SAMD9 were set to 29175836; 32086639; 29266745; 29535429; 28487541; 32048120 Phenotypes for gene: SAMD9 were set to IUGR with gonadal abnormalities, adrenal failure, MDS with chromosome 7 aberrations, predisposition to infections, enteropathy, absent spleen; MIRAGE syndrome (Myelodysplasia, Infection, Restriction of growth, Adrenal insufficiency, Genital phenotypes, and Enteropathy); ataxia-thrombocytopenia syndrome; Bone marrow failure; Combined immunodeficiencies with associated or syndromic features |
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| COVID-19 research v0.36 | PTEN |
Ellen McDonagh gene: PTEN was added gene: PTEN was added to Viral susceptibility. Sources: North West GLH,NHS GMS,London North GLH,IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PTEN were set to 32086639; 27426521; 32048120 Phenotypes for gene: PTEN were set to Recurrent infections, Lymphoproliferation, Autoimmunity; Lymphoproliferation, Autoimmunity; developmental delay; Predominantly Antibody Deficiencies |
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| COVID-19 research v0.36 | PSENEN |
Ellen McDonagh gene: PSENEN was added gene: PSENEN was added to Viral susceptibility. Sources: IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: PSENEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PSENEN were set to 23439959; 28601418; 28287404; 23020871; 20929727; 32086639; 21412258; 27900998; 32048120; 28922471 Phenotypes for gene: PSENEN were set to Acne inversa, familial, 2, with or without Dowling-Degos disease 613736; Defects in intrinsic and innate immunity; Defects in Intrinsic and Innate Immunity; Hidradenitis suppurativa |
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| COVID-19 research v0.36 | NCSTN |
Ellen McDonagh gene: NCSTN was added gene: NCSTN was added to Viral susceptibility. Sources: IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: NCSTN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NCSTN were set to 20929727; 32086639; 32048120; 21412258 Phenotypes for gene: NCSTN were set to Hidradenitis suppurativa with acne, 142690; Defects in intrinsic and innate immunity; familial hydradenitis suppurativa; Defects in Intrinsic and Innate Immunity; Hidradenitis suppurativa with acne |
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| COVID-19 research v0.36 | IRF3 |
Ellen McDonagh Mode of inheritance for gene IRF3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, 616532; Herpes simplex virus 1 encephalitis; Defects in Intrinsic and Innate Immunity for gene: IRF3 Publications for gene IRF3 were updated from to 32086639; 26513235; 32048120; 26216125 |
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| COVID-19 research v0.36 | IL17F |
Ellen McDonagh gene: IL17F was added gene: IL17F was added to Viral susceptibility. Sources: ESID Registry 20171117,Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: IL17F was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: IL17F were set to 32086639; 32048120; 21350122 Phenotypes for gene: IL17F were set to CMC, folliculitis; Candidiasis, familial, 6, 613956; Defects in Intrinsic and Innate Immunity; Chronic mucocutaneous candidiasis (CMC) |
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| COVID-19 research v0.36 | TNFRSF1A |
Ellen McDonagh gene: TNFRSF1A was added gene: TNFRSF1A was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: TNFRSF1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TNFRSF1A were set to 11175303; 10199409; 10902757; 17360963 Phenotypes for gene: TNFRSF1A were set to Periodic fever, familial 142680; TNF-receptor associated periodic fever syndrome (TRAPS); Recurrent fever, serositis, rash, and ocular or joint inflammation; Autoinflammatory Disorders |
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| COVID-19 research v0.36 | TNFAIP3 |
Ellen McDonagh gene: TNFAIP3 was added gene: TNFAIP3 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: TNFAIP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TNFAIP3 were set to 27845235; 29572183; 26642243; 28659290; 29317407 Phenotypes for gene: TNFAIP3 were set to A20 deficiency; Autoimmune lymphoproliferative syndrome; Autoinflammatory Disorders; Autoinflammatory syndrome, familial, Behcet-like, 616744; Arthralgia, mucosal ulcers, ocular inflammation |
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| COVID-19 research v0.36 | TMEM173 |
Ellen McDonagh Mode of pathogenicity for gene TMEM173 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Autoinflammatory Disorders; Type 1 interferonopathies; Skin vasculopathy, inflammatory lung disease, systemic autoinflammation and ICC, FCL; STING-associated vasculopathy, infantile-onset 615934 for gene: TMEM173 Publications for gene TMEM173 were updated from 25029335; 25401470; 30705050; 29976662; 29491158; 29425920 to 29425920; 29976662; 29491158; 25029335; 25401470; 30705050 |
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| COVID-19 research v0.36 | TCF3 |
Ellen McDonagh gene: TCF3 was added gene: TCF3 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,NHS GMS,London North GLH,A- or hypo-gammaglobulinaemia v1.25,IUIS Classification February 2018 Mode of inheritance for gene: TCF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TCF3 were set to 29114388; 28532655; 24216514 Phenotypes for gene: TCF3 were set to Agammaglobulinemia; Recurrent bacterial infections; Agammaglobulinemia 8, autosomal dominant, 616941; Primary immunodeficiency; Predominantly Antibody Deficiencies Mode of pathogenicity for gene: TCF3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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| COVID-19 research v0.36 | TBK1 |
Ellen McDonagh Mode of inheritance for gene TBK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Herpetic encephalitis (HSE); Herpes simplex virus 1 encephalitis; {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8} 617900; Herpes simplex encephalitis, susceptibility to; Defects in Intrinsic and Innate Immunity for gene: TBK1 Publications for gene TBK1 were updated from to 22851595; 26513235 |
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| COVID-19 research v0.36 | RPSA |
Ellen McDonagh gene: RPSA was added gene: RPSA was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: RPSA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RPSA were set to 22560297; 23579497 Phenotypes for gene: RPSA were set to Isolated congential asplenia 271400; Bacteremia (encapsulated bacteria); Defects in Intrinsic and Innate Immunity |
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| COVID-19 research v0.36 | PSTPIP1 |
Ellen McDonagh gene: PSTPIP1 was added gene: PSTPIP1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: PSTPIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PSTPIP1 were set to 28628471; 28960754; 29575118; 26025129; 28251506 Phenotypes for gene: PSTPIP1 were set to Pyogenic sterile arthritis, pyoderma gangrenosum, and acne 604416; Destructive arthritis, inflammatory skin rash, myositis; Hyperzincaemia hypercalprotectinaemia; Autoinflammatory Disorders; Proline/serine/threonine phosphatase-interacting protein 1 deficiency (PSTPIP1); PAPA syndrome Mode of pathogenicity for gene: PSTPIP1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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| COVID-19 research v0.36 | PLCG2 |
Ellen McDonagh gene: PLCG2 was added gene: PLCG2 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,A- or hypo-gammaglobulinaemia v1.25,IUIS Classification February 2018 Mode of inheritance for gene: PLCG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PLCG2 were set to 29538758; 23000145; 22236196 Phenotypes for gene: PLCG2 were set to Other autoinflammatory diseases with known genetic defect; Cold urticaria hypogammaglobulinemia, autoinflammation; Familial cold autoinflammatory syndrome 3 614468; Familial cold autoinflammatory syndrome 3; Autoinflammatory Disorders; Hypogammaglobulinaemia, cold induced urticaria, autoinflammatory; Autoinflammation, antibody deficiency, and immune dysregulation syndrome 614878 Mode of pathogenicity for gene: PLCG2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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| COVID-19 research v0.36 | NOD2 |
Ellen McDonagh gene: NOD2 was added gene: NOD2 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: NOD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NOD2 were set to 18955195; 15459013; 11528384; 4056967 Phenotypes for gene: NOD2 were set to Blau syndrome 186580; Uveitis, granulomatous synovitis, camptodactyly, rash and cranial neuropathies, 30% develop Crohn colitis; Autoinflammatory Disorders; Caspase recruitment domain-containing protein 15 deficiency (CARD15) |
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| COVID-19 research v0.36 | NLRP3 |
Ellen McDonagh gene: NLRP3 was added gene: NLRP3 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: NLRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NLRP3 were set to 28847925; 11687797; 11992256; 29366613; 12522564; 12032915 Phenotypes for gene: NLRP3 were set to CINCA syndrome 607115; Non-pruritic urticaria, arthritis, chills, fever and leukocytosis after cold exposure; Neonatal onset rash, chronic meningitis, and arthropathy with fever and inflammation; Urticaria, SNHL, amyloidosis; Muckle-Wells syndrome 191900; Autoinflammatory Disorders; Familial cold autoinflammatory syndrome 1 120100; Deafness, autosomal dominant 34, with or without inflammation 617772 |
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| COVID-19 research v0.36 | NLRP12 |
Ellen McDonagh gene: NLRP12 was added gene: NLRP12 was added to Viral susceptibility. Sources: Expert Review Green,Victorian Clinical Genetics Services,North West GLH,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: NLRP12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NLRP12 were set to 29248470; 29178652; 27633793; 18230725; 27779193 Phenotypes for gene: NLRP12 were set to Autoinflammatory Disorders; Non-pruritic urticaria, arthritis, chills, fever and leukocytosis after cold exposure.; preterm premature rupture of membranes (PPROM); Familial cold autoinflammatory syndrome 2, 611762 |
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| COVID-19 research v0.36 | NLRC4 |
Ellen McDonagh gene: NLRC4 was added gene: NLRC4 was added to Viral susceptibility. Sources: Expert Review Green,Victorian Clinical Genetics Services,North West GLH,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: NLRC4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NLRC4 were set to 25217960; 25217959; 25385754; 27876626 Phenotypes for gene: NLRC4 were set to Autoinflammatory Disorders; Severe enterocolitis and macrophage activation syndrome; Autoinflammation with infantile enterocolitis 616050; ?Familial cold autoinflammatory syndrome 4 616115 Mode of pathogenicity for gene: NLRC4 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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| COVID-19 research v0.36 | NFKBIA |
Ellen McDonagh gene: NFKBIA was added gene: NFKBIA was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: NFKBIA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NFKBIA were set to 18412279; 17931563; 14523047; 15337789 Phenotypes for gene: NFKBIA were set to Combined immunodeficiencies with associated or syndromic features; Anhidrotic ectodermal dysplasia, various infections (bacteria, mycobacteria, viruses and fungi), colitis, variable defects of skin, hair and teeth, T cell and monocyte dysfunction; Defects of TLR/NFkappa-B signalling; Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency 612132 Mode of pathogenicity for gene: NFKBIA was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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| COVID-19 research v0.36 | NFKB2 |
Ellen McDonagh gene: NFKB2 was added gene: NFKB2 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,A- or hypo-gammaglobulinaemia v1.25,IUIS Classification February 2018 Mode of inheritance for gene: NFKB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NFKB2 were set to 25237204; 24140114; 25524009; 24888602 Phenotypes for gene: NFKB2 were set to Recurrent sinopulmonary infections, alopecia and endorinopathies; Immunodeficiency, common variable, 10 615577; Unclassified antibody deficiency; Hypogammaglobuliaemia; central adrenal insufficiency; immune dysregulation; Common variable immunodeficiency disorders (CVID); Predominantly Antibody Deficiencies |
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| COVID-19 research v0.36 | NFKB1 |
Ellen McDonagh gene: NFKB1 was added gene: NFKB1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: NFKB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NFKB1 were set to 29477724; 26279205 Phenotypes for gene: NFKB1 were set to Unclassified antibody deficiency; Recurrent sinopulmonary infections, COPD, EBV proliferation, autoimmune cytopenias, alopecia and autoimmune thyroiditis; Common variable immunodeficiency disorders (CVID); Predominantly Antibody Deficiencies; Immunodeficiency, common variable, 12 616576 |
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| COVID-19 research v0.36 | GATA2 |
Ellen McDonagh gene: GATA2 was added gene: GATA2 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GATA2 were set to 29588856; 21670465; 21765025; 2543925; 29724903 Phenotypes for gene: GATA2 were set to Susceptibility to mycobacteria, HPV, histoplasmosis, alveolar proteinosis, MDS/AML/CMMoL, lymphedema; Congenital neutropenia; Combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections; Immunodeficiency 21,614172; Congenital defects of phagocyte number or function; Monocytopenia and mycobacterial infection (MonoMAC); Monocytopenia with susceptibility to infections |
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| COVID-19 research v0.36 | ELANE |
Ellen McDonagh gene: ELANE was added gene: ELANE was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,Congenital neutropaenia v1.22,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: ELANE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ELANE were set to Congenital neutropenia; Susceptibility to MDS/leukemia, Severe congenital neutropenia or cyclic neutropenia; Neutropenia, cyclic, 162800; Cyclic neutropenia; Congenital defects of phagocyte number or function; Neutropenia, severe congenital 1; Neutropenia, severe congenital 1, autosomal dominant, 202700 |
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| COVID-19 research v0.36 | CXCR4 |
Ellen McDonagh Mode of inheritance for gene CXCR4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mode of pathogenicity for gene CXCR4 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Myelokathexis, isolated; Warts hypogammaglobulinemia infections and myelokathexis (WHIM); WHIM syndrome, 193670; WHIM syndrome; Warts (HPV) infection, neutropenia, low B cell number, hypogammaglobulinemia; Defects in Intrinsic and Innate Immunity for gene: CXCR4 Publications for gene CXCR4 were updated from to 12692554; 15536153 |
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| COVID-19 research v0.36 | COPA |
Ellen McDonagh gene: COPA was added gene: COPA was added to Viral susceptibility. Sources: Expert Review Green,Victorian Clinical Genetics Services,North West GLH,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: COPA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: COPA were set to 28956095; 25894502; 29137621 Phenotypes for gene: COPA were set to Autoimmune interstitial lung disease-arthritis syndrome; Autoimmune inflammatory arthritis and interstitial lung disease with Th17 dysregulation and autoantibody production; Autoinflammatory Disorders; Autoimmune inflammatoy arthritis and interstial lung disease, 616414; COPA syndrome |
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| COVID-19 research v0.36 | CHD7 |
Ellen McDonagh gene: CHD7 was added gene: CHD7 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CHD7 were set to 15300250; 29159871; 25689927; 20052490; 18976358; 19403480; 26544072; 19187738; 29531775; 26563674; 21378379; 22461308; 18505430 Phenotypes for gene: CHD7 were set to CHARGE syndrome, 214800; Coloboma, heart anomaly, choanal atresia, intellectual disability, genital and ear anomalies, CNS malformation, some are SCID-like and have low TRECs; Immunodeficiency; Combined immunodeficiencies with associated or syndromic features; COLOBOMA, HEART ANOMALY, CHOANAL ATRESIA, RETARDATION, GENITAL AND EAR ANOMALIES; Charge syndrome |
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| COVID-19 research v0.36 | CASP10 |
Ellen McDonagh gene: CASP10 was added gene: CASP10 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CASP10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CASP10 were set to 16446975; 9028957; 10412980; 25663566; 16611303; 21447005 Phenotypes for gene: CASP10 were set to Adenopathies, splenomegaly, autoimmunity; Autoimmune lymphoproliferative syndrome, type II, 603909; Autoimmune lymphoproliferative syndrome (ALPS); Diseases of Immune Dysregulation |
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| COVID-19 research v0.36 | BACH2 |
Ellen McDonagh gene: BACH2 was added gene: BACH2 was added to Viral susceptibility. Sources: Expert Review Green,North West GLH,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: BACH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BACH2 were set to 27807919; 28530713; 27680876 Phenotypes for gene: BACH2 were set to Diseases of Immune Dysregulation; BACH2-related immunodeficiency and autoimmunity (BRIDA); hypogammaglobulinaemia; infantile onset enterocolitis; Lymphocytic colitis, sinopulmonary infections |
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| COVID-19 research v0.36 | TNFRSF13B |
Ellen McDonagh gene: TNFRSF13B was added gene: TNFRSF13B was added to Viral susceptibility. Sources: ESID Registry 20171117,Victorian Clinical Genetics Services,IUIS Classification December 2019,GRID V2.0,GOSH PID v.8.0,A- or hypo-gammaglobulinaemia v1.25,Expert Review Red,IUIS Classification February 2018 Mode of inheritance for gene: TNFRSF13B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TNFRSF13B were set to 29114388; 28834165; 16007086; 16007087; 32086639; 18981294; 32048120 Phenotypes for gene: TNFRSF13B were set to IgA with IgG subclass deficiency; Immunodeficiency, common variable, 2; Immunodeficiency, common variable, 2, 240500; Variable clinical expression; Isolated IgG subclass deficiency; IGAD; Selective IgA deficiency; Common variable immunodeficiency disorders (CVID); Predominantly Antibody Deficiencies; Immunoglobulin A deficiency 2, 609529; CVID |
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| COVID-19 research v0.36 | STAT4 |
Ellen McDonagh gene: STAT4 was added gene: STAT4 was added to Viral susceptibility. Sources: Expert Review Red,NHS GMS,London North GLH Mode of inheritance for gene: STAT4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: STAT4 were set to {Systemic lupus erythematosus, susceptibility to, 11}, 612253 |
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| COVID-19 research v0.36 | CFHR2 |
Ellen McDonagh gene: CFHR2 was added gene: CFHR2 was added to Viral susceptibility. Sources: Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification December 2019,Expert Review Red,IUIS Classification February 2018 Mode of inheritance for gene: CFHR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CFHR2 were set to 32086639; 32048120 Phenotypes for gene: CFHR2 were set to Complement Deficiencies; Age related macular degeneration; Atypical hemolytic uremic syndrome susceptibility; Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections |
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| COVID-19 research v0.36 | TERT |
Ellen McDonagh gene: TERT was added gene: TERT was added to Viral susceptibility. Sources: ESID Registry 20171117,Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: TERT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TERT were set to 16247010; 18460650; 15885610; 17785587 Phenotypes for gene: TERT were set to Bone marrow failure; Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay |
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| COVID-19 research v0.36 | RAC2 |
Ellen McDonagh gene: RAC2 was added gene: RAC2 was added to Viral susceptibility. Sources: Combined B and T cell defect v1.12,ESID Registry 20171117,Victorian Clinical Genetics Services,Congenital neutropaenia v1.22,GRID V2.0,SCID v1.6,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: RAC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RAC2 were set to 21167572; 30654050; 30723080; 31071452; 25512081; 10758162; 31382036; 10961859 Phenotypes for gene: RAC2 were set to Reticular dysgenesis; poststreptococcal glomerulonephritis; Congenital defects of phagocyte number or function; Neutrophil immunodeficiency syndrome; RAS-related C3 Bolutinum toxin substrate 2 deficiency (RAC2); T-B+ SCID; Neutrophil immunodeficiency syndrome 608203; Recurrent sinopulmonary infections, selective IgA defiency; urticaria; T-B- SCID; Poor wound healing, leukocytosis |
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| COVID-19 research v0.36 | NLRP1 |
Ellen McDonagh gene: NLRP1 was added gene: NLRP1 was added to Viral susceptibility. Sources: North West GLH,NHS GMS,London North GLH,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: NLRP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NLRP1 were set to 29850521; 27662089; 31484767; 27965258 Phenotypes for gene: NLRP1 were set to Dyskeratosis, autoimmunity and arthritis; Palmoplantar carcinoma, corneal scarring; Autoinflammation with arthritis and dyskeratosis; Autoinflammatory Disorders |
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| COVID-19 research v0.36 | MBL2 |
Ellen McDonagh Mode of inheritance for gene MBL2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Mannose-binding lectin deficiency (MBL); Chronic infections, due to MBL deficiency; Mannose-Binding Protein Deficiency, 614372 for gene: MBL2 Publications for gene MBL2 were updated from 16170752; 19405982; 25818534; 16185324; 15838797 to 16185324; 28347655; 10888598; 19405982; 1458688; 16170752; 15838797; 7707811; 25818534 |
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| COVID-19 research v0.36 | GUCY2C |
Ellen McDonagh gene: GUCY2C was added gene: GUCY2C was added to Viral susceptibility. Sources: North West GLH,NHS GMS,GOSH PID v.8.0,London North GLH,Expert Review Amber Mode of inheritance for gene: GUCY2C was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GUCY2C were set to meconium ileus, 614665; Diarrhea 6, 614616 |
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| COVID-19 research v0.36 | CFHR5 |
Ellen McDonagh gene: CFHR5 was added gene: CFHR5 was added to Viral susceptibility. Sources: Victorian Clinical Genetics Services,North West GLH,GRID V2.0,NHS GMS,London North GLH,IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: CFHR5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CFHR5 were set to 28673452; 20800271; 32086639; 22503529; 32048120 Phenotypes for gene: CFHR5 were set to Atypical hemolytic-uremic syndrome with anti-factor H antibodies; Atypical hemolytic uremic syndrome susceptibility; Nephropathy due to CFHR5 deficiency, 614809; Complement Deficiencies; Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections |
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| COVID-19 research v0.36 | CFHR4 |
Ellen McDonagh gene: CFHR4 was added gene: CFHR4 was added to Viral susceptibility. Sources: Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: CFHR4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CFHR4 were set to 32086639; 32048120 Phenotypes for gene: CFHR4 were set to Complement Deficiencies; Age related macular degeneration; Atypical hemolytic uremic syndrome susceptibility; Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections |
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| COVID-19 research v0.36 | CFHR3 |
Ellen McDonagh gene: CFHR3 was added gene: CFHR3 was added to Viral susceptibility. Sources: Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: CFHR3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CFHR3 were set to 32086639; 32048120 Phenotypes for gene: CFHR3 were set to Complement Deficiencies; Age related macular degeneration; Atypical hemolytic uremic syndrome susceptibility; Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections |
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| COVID-19 research v0.36 | CFHR1 |
Ellen McDonagh gene: CFHR1 was added gene: CFHR1 was added to Viral susceptibility. Sources: Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: CFHR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CFHR1 were set to 32086639; 32048120 Phenotypes for gene: CFHR1 were set to Complement Deficiencies; Age related macular degeneration; Atypical hemolytic uremic syndrome susceptibility; Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections |
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| COVID-19 research v0.36 | CFB |
Ellen McDonagh gene: CFB was added gene: CFB was added to Viral susceptibility. Sources: ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: CFB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CFB were set to 4109808; 24152280 Phenotypes for gene: CFB were set to Infections with encapsulated organisms; Complement Deficiencies; complement factor B deficiency (AR); Atypical Hemolytic-uremic syndrome; Complement factor B deficiency, 615561; Susceptibility to atypical haemolytic uraemic syndrome 4 (AD) |
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| COVID-19 research v0.36 | TREX1 |
Ellen McDonagh gene: TREX1 was added gene: TREX1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: TREX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TREX1 were set to 20799324; 21808053; 16845398; 25604658 Phenotypes for gene: TREX1 were set to Aicardi-Goutieres syndrome 1, dominant and recessive; Autoinflammatory Disorders; Type 1 interferonopathies; Classical AGS, SLE, FCL |
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| COVID-19 research v0.36 | TLR3 |
Ellen McDonagh Mode of inheritance for gene TLR3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mode of pathogenicity for gene TLR3 was changed from to Other - please provide details in the comments Added phenotypes Herpetic encephalitis (HSE); Herpes simplex virus 1 encephalitis (incomplete clinical penetrance for all etiologies listed here); Defects in Intrinsic and Innate Immunity; Herpes simplex encephalitis, susceptibility to, 2 for gene: TLR3 Publications for gene TLR3 were updated from to 28368532; 21911422; 25339207 |
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| COVID-19 research v0.36 | TICAM1 |
Ellen McDonagh Mode of inheritance for gene TICAM1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Encephalopathy, acute, infection-induced, susceptibility to, 6 614850; Herpes simplex virus 1 encephalitis; Herpetic encephalitis (HSE); Defects in Intrinsic and Innate Immunity for gene: TICAM1 Publications for gene TICAM1 were updated from to 22105173; 26513235 |
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| COVID-19 research v0.36 | SERPING1 |
Ellen McDonagh gene: SERPING1 was added gene: SERPING1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: SERPING1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SERPING1 were set to 1597123; 7883978 Phenotypes for gene: SERPING1 were set to Angioedema, hereditary, types I and II 106100; Complement component 4, partial deficiency of 120790; Complement Deficiencies; Hereditary Angioedema (C1inh); Hereditary angioedema |
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| COVID-19 research v0.36 | RTEL1 |
Ellen McDonagh gene: RTEL1 was added gene: RTEL1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: RTEL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RTEL1 were set to 23959892; 23453664; 23591994 Phenotypes for gene: RTEL1 were set to Combined immunodeficiencies with associated or syndromic features; Hoyeraal-Hreidarsson syndrome/ Dyskeratosis congenita, 4 615190; Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients; Dyskeratosis congenita, 5 615190 |
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| COVID-19 research v0.36 | PARN |
Ellen McDonagh gene: PARN was added gene: PARN was added to Viral susceptibility. Sources: Expert Review Green,Victorian Clinical Genetics Services,North West GLH,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: PARN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PARN were set to 25848748; 26342108; 25893599 Phenotypes for gene: PARN were set to Pulmonary fibrosis and/or bone marrow failure,telomere-related, 4 616371; Dyskeratosis congenita, autosomal recessive 6 616353; Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients; Combined immunodeficiencies with associated or syndromic features |
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| COVID-19 research v0.36 | MEFV |
Ellen McDonagh gene: MEFV was added gene: MEFV was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: MEFV was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MEFV were set to 11242116; 14679589; 9668175; 9288094; 10787449; 10090880; 11903360 Phenotypes for gene: MEFV were set to Familial mediterranean fever defect; Recurrent fever, serositis and inflammation responsive to colchicine. Predisoposes to vasculitis and inflammatory bowel disease.; Autoinflammatory Disorders; Familial Mediterranean fever, AD 134610; Familial Mediterranean fever, AR 249100 |
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| COVID-19 research v0.36 | IRF8 |
Ellen McDonagh Mode of inheritance for gene IRF8 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 226990; Susceptibility to mycobacteria and multiple other infectious agents; Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893; Defects with susceptibility to mycobacterial infection (MSMD); Susceptibility to mycobacteria; Defects in Intrinsic and Innate Immunity for gene: IRF8 Publications for gene IRF8 were updated from 27893462 to 25122610; 22464253; 21524210; 22046141; 27893462 |
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| COVID-19 research v0.36 | IFNGR2 |
Ellen McDonagh gene: IFNGR2 was added gene: IFNGR2 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: IFNGR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: IFNGR2 were set to 9616207; 18625743; 30264912; 15924140 Phenotypes for gene: IFNGR2 were set to Susceptibility to mycobacteria and Salmonella; Defects with susceptibility to mycobacterial infection (MSMD); Immunodeficiency 28, Mycobacteriosis, 614889; Defects in Intrinsic and Innate Immunity |
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| COVID-19 research v0.36 | IFIH1 |
Ellen McDonagh Mode of inheritance for gene IFIH1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mode of pathogenicity for gene IFIH1 was changed from None to Other - please provide details in the comments Added phenotypes Rhinovirus and other RNA viruses (AR); Classical AGS, SLE, SP, SMS; Autoinflammatory Disorders; Defects in Intrinsic and Innate Immunity; Aicardi-Goutieres syndrome 7 (AD); susceptibility to RNA viruses for gene: IFIH1 Publications for gene IFIH1 were updated from 29018476; 28606988 to 29018476; 28606988; 28716935 |
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| COVID-19 research v0.36 | FAS |
Ellen McDonagh gene: FAS was added gene: FAS was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: FAS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: FAS were set to 10709732; 15459302; 26258116; 8929361; 9927496; 7540117; 28668589; 9028321; 9821419 Phenotypes for gene: FAS were set to Splenomegaly, adenopathies, autoimmune cytopenias, increased lymphoma risk, IgG and A normal or increased, elevated serum FasL and IL-10, vitamin B12; Diseases of Immune Dysregulation; Autoimmune lymphoproliferative syndrome, type IA (ALPS-FAS); Autoimmune lymphoproliferative syndrome type IA, 601859; Autoimmune lymphoproliferative syndrome (ALPS) |
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| COVID-19 research v0.36 | CFH |
Ellen McDonagh gene: CFH was added gene: CFH was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,Inherited complement deficiency v0.11,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CFH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CFH were set to 14978182; 9312129; 24722444; 2966809; 1701856; 10803850; 16612335; 7742208 Phenotypes for gene: CFH were set to Complement Deficiencies; Complement factor H deficiency, 609814; Infections, disseminated neisserial infections, atypical Hemolytic-uremic syndrome, preeclampsia, dense deposit disease |
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| COVID-19 research v0.36 | CEBPE |
Ellen McDonagh gene: CEBPE was added gene: CEBPE was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CEBPE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CEBPE were set to 11313242; 29651288; 10359588 Phenotypes for gene: CEBPE were set to Specific granule deficiency 1; Recurrent infection due to specific granule deficiency; Congenital defects of phagocyte number or function; Specific granule deficiency, 245480; Neutrophils with bilobed nuclei; neutrophil lactoferrin deficiency; CCAAT/enhancer binding protein epsilon deficiency (CEBPE) |
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| COVID-19 research v0.36 | CD46 |
Ellen McDonagh gene: CD46 was added gene: CD46 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CD46 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CD46 were set to 16621965; 14566051; 14615110 Phenotypes for gene: CD46 were set to Hemolytic uremic syndrome, atypical, susceptibility to, 2, 612922; atypical HUS; Membrane Cofactor Protein (CD46) deficiency; Complement Deficiencies; Atypical hemolytic-uremic syndrome, infections, preeclampsia |
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| COVID-19 research v0.36 | CARD11 |
Ellen McDonagh gene: CARD11 was added gene: CARD11 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CARD11 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CARD11 were set to 25352053; 23374270; 29074947; 23129749; 23561803; 30170123; 28628108; 28826773 Phenotypes for gene: CARD11 were set to immunodeficiency 11B with atopic dermatitis (AD), 617638; CARD11 deficiency; Combined immunodeficiency; Autoimmune lymphoproliferative syndrome (ALPS); Pneumocystis jirovecii pneumonia, bacterial and viral infections; Severe atopy, recurrent infections; B cell expansion with NFKB and T cell anergy (BENTA) (AD), 616452; Atypical Severe Combined Immunodeficiency (Atypical SCID); Splenomegaly, lymphadenopathy, poor vaccine response; Immunodeficiencies affecting cellular and humoral immunity; Predominantly Antibody Deficiencies; Predominantly antibody deficiencies; Combined immunodeficiencies with associated or syndromic features; Immunodeficiency 11A, 615206 (AR) Mode of pathogenicity for gene: CARD11 was set to Other - please provide details in the comments |
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| COVID-19 research v0.36 | STAT1 |
Ellen McDonagh Mode of inheritance for gene STAT1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Mode of pathogenicity for gene STAT1 was changed from to Other - please provide details in the comments Added phenotypes Immunodeficiency 31A, mycobacteriosis; Combined immunodeficiency; Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive 613796; Defects with susceptibility to mycobacterial infection (MSMD); Candidiasis, familial, 7; Severe viral infections, mycobacterial infection; Chronic mucocutaneous candidiasis (CMC); Susceptibility to mycobacteria, Salmonella; Immunodeficiency 31A, mycobacteriosis, autosomal dominant 614892; CMC, various fungal, bacterial and viral (HSV) infections, auto-immunity (thyroiditis, diabetes, cytopenias), enteropathy; Immunodeficiency 31C, autosomal dominant 614162; Defects in Intrinsic and Innate Immunity for gene: STAT1 Publications for gene STAT1 were updated from to 26513235; 29702748; 11452125; 23541320; 23709754; 23534974; 21727188; 12590259 |
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| COVID-19 research v0.36 | PIK3R1 |
Ellen McDonagh gene: PIK3R1 was added gene: PIK3R1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,A- or hypo-gammaglobulinaemia v1.25,IUIS Classification February 2018 Mode of inheritance for gene: PIK3R1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: PIK3R1 were set to 25133428; 22351933; 9888855; 25488983 Phenotypes for gene: PIK3R1 were set to Agammaglobulinemia; Severe bacterial infections, decreased or absent pro-B cells; Combined immunodeficiency; Immunodeficiency 36; Activated PI3K-delta syndrome (APDS); immunodeficiency with hypogammaglobulinaemia, lymphoproliferation and inflammatory disease (AD); Agammaglobulinemia 7, autosomal recessive, 615214; Agammaglobulinemia 7; Immunodeficiency 36, 616005; Predominantly Antibody Deficiencies; SHORT syndrome, 269880; Severe bacterial infections, pro-B cells present and low numbers of memory B cells, EBV |
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| COVID-19 research v0.36 | IFNGR1 |
Ellen McDonagh gene: IFNGR1 was added gene: IFNGR1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: IFNGR1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: IFNGR1 were set to 8960473; 8960475; 9389728; 9497247 Phenotypes for gene: IFNGR1 were set to Immunodeficiency 27A, (AR) 209950; Susceptibility to mycobacteria and Salmonella; Mycobacteriosis; Defects with susceptibility to mycobacterial infection (MSMD); Defects in Intrinsic and Innate Immunity; Immunodeficiency 27B, (AD) 615978 |
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| COVID-19 research v0.36 | AIRE |
Ellen McDonagh gene: AIRE was added gene: AIRE was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: AIRE was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: AIRE were set to 9888391; 19807739; 11600535; 11836330; 10677297; 29437776; 29108822; 19758376; 9398839; 9837820; 28911151 Phenotypes for gene: AIRE were set to Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia, 240300; Multiple endocrine deficiency Addison disease candidiasis syndrome; Autoimmune hypoparathyroidism chronic candidiasis Addison disease syndrome; Diseases of Immune Dysregulation; Chronic mucocutaneous candidiasis (CMC); Autoimmunity: hypoparathyroidism hypothyroidism, adrenal insufficiency, diabetes, gonadal dysfunction and other endocrine abnormalities, chronic mucocutaneous candidiasis, dental enamel hypoplasia, alopecia areata enteropathy, pernicious anemia; Hypoparathyroidism Addison disease mucocutaneous candidiasis syndrome; Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) |
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| COVID-19 research v0.36 | ACD |
Ellen McDonagh gene: ACD was added gene: ACD was added to Viral susceptibility. Sources: Expert Review Green,North West GLH,GRID V2.0,NHS GMS,London North GLH Mode of inheritance for gene: ACD was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: ACD were set to 25205116; 25233904 Phenotypes for gene: ACD were set to Dyskeratosis congenita 6, 616553; Dyskeratosis congenita 7, 616553; Hoyeraal-Hreidarsson syndrome |
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| COVID-19 research v0.36 | ZNF341 |
Ellen McDonagh gene: ZNF341 was added gene: ZNF341 was added to Viral susceptibility. Sources: Expert Review Red,Literature,IUIS Classification December 2019 Mode of inheritance for gene: ZNF341 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF341 were set to 32086639; 29907691; 32048120; 29907690 Phenotypes for gene: ZNF341 were set to Hyper-IgE syndrome; Combined immunodeficiencies with associated or syndromic features; Bacterial infections, mild facial dysmorphism, pneumatoceles, hyperextensible joints, bone fractures, retention of primary teeth |
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| COVID-19 research v0.36 | WRAP53 |
Ellen McDonagh gene: WRAP53 was added gene: WRAP53 was added to Viral susceptibility. Sources: IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: WRAP53 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WRAP53 were set to 32086639; 32048120 Phenotypes for gene: WRAP53 were set to Bone marrow failure; Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; Combined immunodeficiencies with associated or syndromic features; Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients; microcephaly, neurodevelopmental delay |
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| COVID-19 research v0.36 | TRIM22 |
Ellen McDonagh gene: TRIM22 was added gene: TRIM22 was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: TRIM22 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIM22 were set to 26836588; 32086639; 32048120 Phenotypes for gene: TRIM22 were set to TRIM22; Granulomatous colitis; Autoinflammatory Disorders; Diseases of Immune Dysregulation |
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| COVID-19 research v0.36 | TRAF3IP2 |
Ellen McDonagh gene: TRAF3IP2 was added gene: TRAF3IP2 was added to Viral susceptibility. Sources: ESID Registry 20171117,Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification December 2019,Expert Review Red,IUIS Classification February 2018 Mode of inheritance for gene: TRAF3IP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAF3IP2 were set to 32086639; 24120361; 32048120 Phenotypes for gene: TRAF3IP2 were set to Defects in Intrinsic and Innate Immunity; Chronic mucocutaneous candidiasis (CMC); Defects in intrinsic and innate immunity; Candidiasis, familial, 8 615527; CMC, blepharitis, folliculitis and macroglossia |
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| COVID-19 research v0.36 | TNFSF11 |
Ellen McDonagh gene: TNFSF11 was added gene: TNFSF11 was added to Viral susceptibility. Sources: IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: TNFSF11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNFSF11 were set to 32086639; 32048120 Phenotypes for gene: TNFSF11 were set to Osteopetrosis with severe growth retardation; Defects in intrinsic and innate immunity; Defects in Intrinsic and Innate Immunity |
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| COVID-19 research v0.36 | TNFRSF9 |
Ellen McDonagh gene: TNFRSF9 was added gene: TNFRSF9 was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: TNFRSF9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNFRSF9 were set to 30872117; 32086639; 31537641; 31501153; 32048120 Phenotypes for gene: TNFRSF9 were set to EBV lymphoproliferation, B-cell lymphoma; CD137 deficiency (41BB) |
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| COVID-19 research v0.36 | TNFRSF4 |
Ellen McDonagh gene: TNFRSF4 was added gene: TNFRSF4 was added to Viral susceptibility. Sources: ESID Registry 20171117,Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification December 2019,Expert Review Red,IUIS Classification February 2018 Mode of inheritance for gene: TNFRSF4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNFRSF4 were set to 32086639; 32048120 Phenotypes for gene: TNFRSF4 were set to Kaposi's Sarcoma, impaired immunity to HHV8, OX40 deficiency; Immunodeficiencies affecting cellular and humoral immunity; Impaired immunity to HHV8, Kaposis sarcoma; Combined immunodeficiency |
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| COVID-19 research v0.36 | TIRAP |
Ellen McDonagh gene: TIRAP was added gene: TIRAP was added to Viral susceptibility. Sources: Expert Review Red,ESID Registry 20171117,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: TIRAP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TIRAP were set to 32086639; 32048120; 28235196 Phenotypes for gene: TIRAP were set to Staphylococcal disease during childhood; Defects of TLR/NFkappa-B signalling; TIRAP deficiency; Defects in intrinsic and innate immunity; Defects in Intrinsic and Innate Immunity |
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| COVID-19 research v0.36 | TGFB1 |
Ellen McDonagh gene: TGFB1 was added gene: TGFB1 was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: TGFB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TGFB1 were set to 32086639; 32048120; 29483653 Phenotypes for gene: TGFB1 were set to Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213; IBD, immunodeficiency, recurrent viral infections, microcephaly, and encephalopathy; TGFB1 deficiency; Diseases of Immune Dysregulation |
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| COVID-19 research v0.36 | TFRC |
Ellen McDonagh gene: TFRC was added gene: TFRC was added to Viral susceptibility. Sources: IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: TFRC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TFRC were set to 32086639; 32048120 Phenotypes for gene: TFRC were set to Recurrent infections, neutropenia, thrombocytopenia; Recurrent infections, thrombocytopenia; Immunodeficiencies affecting cellular and humoral immunity |
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| COVID-19 research v0.36 | TCIRG1 |
Ellen McDonagh gene: TCIRG1 was added gene: TCIRG1 was added to Viral susceptibility. Sources: IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: TCIRG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCIRG1 were set to 32086639; 32048120 Phenotypes for gene: TCIRG1 were set to Defects in intrinsic and innate immunity; Osteopetrosis with hypocalcemia; Defects in Intrinsic and Innate Immunity |
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| COVID-19 research v0.36 | STN1 |
Ellen McDonagh gene: STN1 was added gene: STN1 was added to Viral susceptibility. Sources: IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: STN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STN1 were set to 32086639; 32048120 Phenotypes for gene: STN1 were set to Combined immunodeficiencies with associated or syndromic features; Bone marrow failure; Intrauterine growth retardation, premature aging, pancytopenia, hypocellular bone marrow, gastrointestinal hemorrhage due to vascular ectasia, intracranial calcification, abnormal telomeres |
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| COVID-19 research v0.36 | SNX10 |
Ellen McDonagh gene: SNX10 was added gene: SNX10 was added to Viral susceptibility. Sources: IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: SNX10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNX10 were set to 32086639; 32048120 Phenotypes for gene: SNX10 were set to Defects in intrinsic and innate immunity; Osteopetrosis with visual impairment; Defects in Intrinsic and Innate Immunity |
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| COVID-19 research v0.36 | SMARCD2 |
Ellen McDonagh gene: SMARCD2 was added gene: SMARCD2 was added to Viral susceptibility. Sources: IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: SMARCD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMARCD2 were set to 32086639; 32048120 Phenotypes for gene: SMARCD2 were set to Congenital defects of phagocyte number or function; Neutropenia, developmental aberrations, skeletal abnormalities, hematopoietic stem cells, myelodysplasia |
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| COVID-19 research v0.36 | SLC7A7 |
Ellen McDonagh gene: SLC7A7 was added gene: SLC7A7 was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC7A7 were set to 28057010; 32086639; 32048120 Phenotypes for gene: SLC7A7 were set to Lysinuric protein intolerance, 222700; Severe bacterial infections; Lysinuric protein intolerance SLC7A7 deficiency; Predominantly Antibody Deficiencies |
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| COVID-19 research v0.36 | SLC39A7 |
Ellen McDonagh gene: SLC39A7 was added gene: SLC39A7 was added to Viral susceptibility. Sources: Expert Review Red,Literature,IUIS Classification December 2019 Mode of inheritance for gene: SLC39A7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC39A7 were set to 32086639; 32048120; 30718914 Phenotypes for gene: SLC39A7 were set to Agammaglobulinemia; B cell deficiency; Early onset infections, blistering dermatosis, failure to thrive, thrombocytopenia; Predominantly Antibody Deficiencies |
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| COVID-19 research v0.36 | RNU4ATAC |
Ellen McDonagh gene: RNU4ATAC was added gene: RNU4ATAC was added to Viral susceptibility. Sources: IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNU4ATAC were set to 32086639; 32048120 Phenotypes for gene: RNU4ATAC were set to Recurrent bacterial infections, lymphadenopathy, Spondyloepiphyseal dysplasia, extreme intrauterine growth retardation, retinal dystrophy, facial dysmorphism, may present with microcephaly; Combined immunodeficiencies with associated or syndromic features; Recurrent bacterial infections, lymphadenopathy, Spondyloepiphyseal dysplasia, extreme intrauterine growth retardation, retinal dystrophy, facial dysmorphism, may present with microcephaly, short stature |
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| COVID-19 research v0.36 | RNF31 |
Ellen McDonagh gene: RNF31 was added gene: RNF31 was added to Viral susceptibility. Sources: Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification December 2019,Expert Review Red,IUIS Classification February 2018 Mode of inheritance for gene: RNF31 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNF31 were set to 32086639; 32048120; 26008899 Phenotypes for gene: RNF31 were set to Polyglucosan body myopathy, early-onset, with or without immunodeficiency; Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis; autoinflammation and combined immunodeficiency; Combined immunodeficiencies with associated or syndromic features; Bacterial infections, autoinflammation, amylopectinosis, lymphangiectasia |
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| COVID-19 research v0.36 | RELB |
Ellen McDonagh gene: RELB was added gene: RELB was added to Viral susceptibility. Sources: Combined B and T cell defect v1.12,Expert Review Red,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: RELB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RELB were set to 32086639; 32048120; 26385063 Phenotypes for gene: RELB were set to Immunodeficiencies affecting cellular and humoral immunity; Recurrent infectionsImmunodeficiencies affecting cellular and humoral immunity; Recurrent infections; ?Immunodeficiency 53, 617585 |
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| COVID-19 research v0.36 | REL |
Ellen McDonagh gene: REL was added gene: REL was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: REL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: REL were set to 32086639; 31103457; 32048120 Phenotypes for gene: REL were set to Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic infections; Immunodeficiencies affecting cellular and humoral immunity; c-Rel deficiency |
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| COVID-19 research v0.36 | RECQL4 |
Ellen McDonagh gene: RECQL4 was added gene: RECQL4 was added to Viral susceptibility. Sources: Expert Review Red,ESID Registry 20171117 Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RECQL4 were set to 16630167 Phenotypes for gene: RECQL4 were set to Rothmund-Thomson syndrome, 268400; Combined immunodeficiency |
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| COVID-19 research v0.36 | RC3H1 |
Ellen McDonagh gene: RC3H1 was added gene: RC3H1 was added to Viral susceptibility. Sources: Expert Review Red,Literature Mode of inheritance for gene: RC3H1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RC3H1 were set to PMID: 31636267 Phenotypes for gene: RC3H1 were set to Hemophagocytic lymphohistiocytosis |
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| COVID-19 research v0.36 | PSMG2 |
Ellen McDonagh gene: PSMG2 was added gene: PSMG2 was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: PSMG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSMG2 were set to 30664889; 32086639; 32048120 Phenotypes for gene: PSMG2 were set to Panniculitis, lipodystrophy, autoimmune hemolytic anemia; CANDLE (chronic atypical neutrophilic dermatitis with lipodystrophy); Autoinflammatory Disorders |
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| COVID-19 research v0.36 | PSMB10 |
Ellen McDonagh gene: PSMB10 was added gene: PSMB10 was added to Viral susceptibility. Sources: Expert Review Red,Literature Mode of inheritance for gene: PSMB10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSMB10 were set to 31783057 Phenotypes for gene: PSMB10 were set to Proteasome-associated autoinflammatory syndrome |
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| COVID-19 research v0.36 | POLE2 |
Ellen McDonagh gene: POLE2 was added gene: POLE2 was added to Viral susceptibility. Sources: Expert Review Red,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: POLE2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLE2 were set to 32086639; 32048120 Phenotypes for gene: POLE2 were set to Recurrent infections, disseminated BCG infections, autoimmunity (type 1 diabetes, hypothyroidism, facial dysmorphism); Combined immunodeficiencies with associated or syndromic features; Recurrent infections, disseminated BCG infections, autoimmunity (type 1 diabetes, hypothyroidism, facial dysmorphism |
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| COVID-19 research v0.36 | POLD2 |
Ellen McDonagh gene: POLD2 was added gene: POLD2 was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: POLD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLD2 were set to 31449058; 32086639; 32048120 Phenotypes for gene: POLD2 were set to Immunodeficiencies affecting cellular and humoral immunity; Polymerase d 2 deficiency; Recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability |
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| COVID-19 research v0.36 | POLD1 |
Ellen McDonagh gene: POLD1 was added gene: POLD1 was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: POLD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLD1 were set to 31449058; 32086639; 32048120; 31629014 Phenotypes for gene: POLD1 were set to Immunodeficiencies affecting cellular and humoral immunity; Recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability; Polymerase d 1 deficiency |
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| COVID-19 research v0.36 | PLEKHM1 |
Ellen McDonagh gene: PLEKHM1 was added gene: PLEKHM1 was added to Viral susceptibility. Sources: Expert Review Red,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: PLEKHM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLEKHM1 were set to 32086639; 32048120 Phenotypes for gene: PLEKHM1 were set to Osteopetrosis; Defects in intrinsic and innate immunity; Defects in Intrinsic and Innate Immunity |
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| COVID-19 research v0.36 | OSTM1 |
Ellen McDonagh gene: OSTM1 was added gene: OSTM1 was added to Viral susceptibility. Sources: Expert Review Red,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: OSTM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OSTM1 were set to 32086639; 32048120 Phenotypes for gene: OSTM1 were set to Defects in intrinsic and innate immunity; Defects in Intrinsic and Innate Immunity; Osteopetrosis with hypocalcemia, neurologic features |
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| COVID-19 research v0.36 | NBAS |
Ellen McDonagh gene: NBAS was added gene: NBAS was added to Viral susceptibility. Sources: Expert Review Red,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NBAS were set to 32086639; 32048120 Phenotypes for gene: NBAS were set to Infantile liver failure syndrome 2, 616483; Defects in intrinsic and innate immunity; Fever induced liver failure; Defects in Intrinsic and Innate Immunity; Fever induces liver failure |
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| COVID-19 research v0.36 | MSH6 |
Ellen McDonagh gene: MSH6 was added gene: MSH6 was added to Viral susceptibility. Sources: Expert Review Red,IUIS Classification February 2018,GRID V2.0,IUIS Classification December 2019 Mode of inheritance for gene: MSH6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MSH6 were set to 32086639; 32048120 Phenotypes for gene: MSH6 were set to Colorectal cancer, hereditary nonpolyposis, type 5 614350; Endometrial cancer, familial 608089; Predominantly Antibody Deficiencies; Family or personal history of cancer; Mismatch repair cancer syndrome 276300 |
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| COVID-19 research v0.36 | MS4A1 |
Ellen McDonagh gene: MS4A1 was added gene: MS4A1 was added to Viral susceptibility. Sources: ESID Registry 20171117,Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification December 2019,Expert Review Red,IUIS Classification February 2018 Mode of inheritance for gene: MS4A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MS4A1 were set to 27250108; 32086639; 32048120; 20038800 Phenotypes for gene: MS4A1 were set to Predominantly Antibody Deficiencies; Recurrent infections; Common variable immunodeficiency disorders (CVID); Immunodeficiency, common variable, 5 613495 |
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| COVID-19 research v0.36 | MRE11 |
Ellen McDonagh gene: MRE11 was added gene: MRE11 was added to Viral susceptibility. Sources: Expert Review Red,ESID Registry 20171117,GRID V2.0 Mode of inheritance for gene: MRE11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRE11 were set to 10612394; 8445618 Phenotypes for gene: MRE11 were set to AT-like disorder; Ataxia-telangiectasia-like disorder 1 604391 |
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| COVID-19 research v0.36 | MPO |
Ellen McDonagh gene: MPO was added gene: MPO was added to Viral susceptibility. Sources: Expert Review Red,ESID Registry 20171117,GRID V2.0 Mode of inheritance for gene: MPO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPO were set to 9354683; 15108282; 9637725 Phenotypes for gene: MPO were set to Myeloperoxidase deficiency 254600 |
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| COVID-19 research v0.36 | MKL1 |
Ellen McDonagh gene: MKL1 was added gene: MKL1 was added to Viral susceptibility. Sources: Expert Review Red,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: MKL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MKL1 were set to 26224645; 32086639; 32048120 Phenotypes for gene: MKL1 were set to Susceptibility to severe bacterial infection; Mild thrombocytopenia; Congenital defects of phagocyte number or function |
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| COVID-19 research v0.36 | MASP2 |
Ellen McDonagh Mode of inheritance for gene MASP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Complement Deficiencies; MASP2 deficiency 613791; Mannan-binding lectin serine protease (MASP) deficiency; Pyogenic infections, inflammatory lung disease, autoimmunity for gene: MASP2 Publications for gene MASP2 were updated from 19405982 to 24658431; 32086639; 32048120; 19405982 |
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| COVID-19 research v0.36 | LIG1 |
Ellen McDonagh gene: LIG1 was added gene: LIG1 was added to Viral susceptibility. Sources: Emory Genetics Laboratory,Expert Review,Other,IUIS Classification December 2019,Expert Review Red,Literature,IUIS Classification February 2018 Mode of inheritance for gene: LIG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIG1 were set to 30395541; 1581963; 32086639; 32048120 Phenotypes for gene: LIG1 were set to DNA ligase I deficiency; Combined immunodeficiencies with associated or syndromic features; DNA-ligase 1 ATP-dependent deficiency (LIG1); Recurrent respiratory infections, growth retardation, sun sensitivity, lymphoma, radiation sensitivity |
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| COVID-19 research v0.36 | IL6ST |
Ellen McDonagh gene: IL6ST was added gene: IL6ST was added to Viral susceptibility. Sources: Expert Review Red,Literature,IUIS Classification December 2019 Mode of inheritance for gene: IL6ST was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL6ST were set to 31235509; 32086639; 30309848; 28747427; 32048120 Phenotypes for gene: IL6ST were set to Eczema; Abnormal acute-phase responses; Recurrent infections; Bacterial infections, boiles, eczema, pulmonary abscesses, pneumatoceles, bone fractures, scoliosis, retention of primary teeth, craniosynostosis; Eosinophilia; Elevated IgE; Combined immunodeficiencies with associated or syndromic features |
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| COVID-19 research v0.36 | IL6R |
Ellen McDonagh gene: IL6R was added gene: IL6R was added to Viral susceptibility. Sources: Expert Review Red,Literature,IUIS Classification December 2019 Mode of inheritance for gene: IL6R was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL6R were set to 31235509; 32086639; 32048120; 31778705 Phenotypes for gene: IL6R were set to Eczema; Recurrent infections; Recurrent pyogenic infections, cold abscesses, high circulating IL-6 levels; Hyper-IgE; Combined immunodeficiencies with associated or syndromic features |
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| COVID-19 research v0.36 | IL2RB |
Ellen McDonagh gene: IL2RB was added gene: IL2RB was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: IL2RB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL2RB were set to 32086639; 31040185; 32048120; 31040184 Phenotypes for gene: IL2RB were set to Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune hemolytic anemia, dermatitis, enteropathy, recurrent viral (EBV, CMV) infections; Immunodeficiency 63 with lymphoproliferation and autoimmunity, 618495; CD122 deficiency |
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| COVID-19 research v0.36 | IL22 |
Ellen McDonagh gene: IL22 was added gene: IL22 was added to Viral susceptibility. Sources: Expert Review Red,GRID V2.0 Mode of inheritance for gene: IL22 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IL22 were set to AutoAb Chronic Mucocutaneous Candidiasis |
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| COVID-19 research v0.36 | IFNAR2 |
Ellen McDonagh gene: IFNAR2 was added gene: IFNAR2 was added to Viral susceptibility. Sources: Expert Review Red,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: IFNAR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFNAR2 were set to 32086639; 32048120; 26424569 Phenotypes for gene: IFNAR2 were set to ?Immunodeficiency 45, 616669; Severe viral infections (disseminated vaccine-strain measles, HHV6); Defects in Intrinsic and Innate Immunity |
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| COVID-19 research v0.36 | ICOSLG |
Ellen McDonagh gene: ICOSLG was added gene: ICOSLG was added to Viral susceptibility. Sources: Expert Review Red,Victorian Clinical Genetics Services,IUIS Classification December 2019 Mode of inheritance for gene: ICOSLG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ICOSLG were set to 32086639; 32048120; 30498080 Phenotypes for gene: ICOSLG were set to Immunodeficiencies affecting cellular and humoral immunity; Recurrent bacterial and viral infections |
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| COVID-19 research v0.36 | HYOU1 |
Ellen McDonagh gene: HYOU1 was added gene: HYOU1 was added to Viral susceptibility. Sources: Expert Review Red,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: HYOU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HYOU1 were set to 32086639; 32048120 Phenotypes for gene: HYOU1 were set to Hypoglycemia, inflammatory complications; Congenital defects of phagocyte number or function |
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| COVID-19 research v0.36 | HMOX1 |
Ellen McDonagh gene: HMOX1 was added gene: HMOX1 was added to Viral susceptibility. Sources: Expert Review Red,IUIS Classification February 2018 Mode of inheritance for gene: HMOX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HMOX1 were set to 21088618; 9884342 Phenotypes for gene: HMOX1 were set to amyloidosis; Hemolysis, nephritis, inflammation; Defects in Intrinsic and Innate Immunity |
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| COVID-19 research v0.36 | HAVCR2 |
Ellen McDonagh gene: HAVCR2 was added gene: HAVCR2 was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: HAVCR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HAVCR2 were set to 30792187; 32086639; 32048120; 30374066 Phenotypes for gene: HAVCR2 were set to T-cell lymphoma, subcutaneous panniculitis-like, 618398; Tim-3 deficiency; T-cell lymphoma, subcutaneous panniculitis-like, HLH; Autoinflammatory Disorders |
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| COVID-19 research v0.36 | GAD1 |
Ellen McDonagh gene: GAD1 was added gene: GAD1 was added to Viral susceptibility. Sources: Expert Review Red,A- or hypo-gammaglobulinaemia v1.25 Mode of inheritance for gene: GAD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GAD1 were set to ?Cerebral palsy, spastic quadriplegic, 1, 603513 |
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| COVID-19 research v0.36 | FERMT1 |
Ellen McDonagh gene: FERMT1 was added gene: FERMT1 was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: FERMT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FERMT1 were set to 32086639; 32048120; 21936020 Phenotypes for gene: FERMT1 were set to FERMT1 deficiency (Kindler syndrome); Diseases of Immune Dysregulation; Kindler syndrome, 173650; Dermatosis characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling |
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| COVID-19 research v0.36 | FCN3 |
Ellen McDonagh gene: FCN3 was added gene: FCN3 was added to Viral susceptibility. Sources: ESID Registry 20171117,Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification December 2019,Expert Review Red,IUIS Classification February 2018 Mode of inheritance for gene: FCN3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FCN3 were set to 25662573; 19535802; 32086639; 32048120; 20971976; 22226667 Phenotypes for gene: FCN3 were set to Respiratory infections, abscesses; Complement Deficiencies; Ficolin3 deficiency; Immunodeficiency due to ficolin 3 deficiency, 613860 |
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| COVID-19 research v0.36 | FCHO1 |
Ellen McDonagh gene: FCHO1 was added gene: FCHO1 was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: FCHO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FCHO1 were set to 32086639; 30822429; 32048120 Phenotypes for gene: FCHO1 were set to Recurrent infections, lymphoproliferation, increased activation-induced T-cell death, defective clathrin-mediated endocytosis; FCHO1 deficiency; Immunodeficiencies affecting cellular and humoral immunity |
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| COVID-19 research v0.36 | FANCM |
Ellen McDonagh gene: FANCM was added gene: FANCM was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: FANCM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCM were set to 32086639; 32048120 Phenotypes for gene: FANCM were set to Fanconi Anemia Type M; Bone marrow failure; Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage |
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| COVID-19 research v0.36 | FANCI |
Ellen McDonagh gene: FANCI was added gene: FANCI was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCI were set to 32086639; 32048120 Phenotypes for gene: FANCI were set to Fanconi anemia, complementation group I, 609053; Bone marrow failure; Fanconi Anemia Type I; Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage |
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| COVID-19 research v0.36 | FANCF |
Ellen McDonagh gene: FANCF was added gene: FANCF was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCF were set to 32086639; 32048120 Phenotypes for gene: FANCF were set to Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage; Fanconi anemia, complementation group F, 603467; Bone marrow failure; Fanconi Anemia Type F |
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| COVID-19 research v0.36 | FAAP24 |
Ellen McDonagh gene: FAAP24 was added gene: FAAP24 was added to Viral susceptibility. Sources: Expert Review Red,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: FAAP24 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAAP24 were set to 32086639; 27473539; 32048120 Phenotypes for gene: FAAP24 were set to EBV infection-driven lymphoproliferative disease; Diseases of Immune Dysregulation |
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| COVID-19 research v0.36 | ERCC4 |
Ellen McDonagh gene: ERCC4 was added gene: ERCC4 was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC4 were set to 32086639; 32048120 Phenotypes for gene: ERCC4 were set to Fanconi anemia, complementation group Q, 615272; Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage; Fanconi Anemia Type Q; Bone marrow failure |
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| COVID-19 research v0.36 | ERCC3 |
Ellen McDonagh gene: ERCC3 was added gene: ERCC3 was added to Viral susceptibility. Sources: Victorian Clinical Genetics Services,North West GLH,NHS GMS,London North GLH,Expert Review Red Mode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC3 were set to none Phenotypes for gene: ERCC3 were set to none |
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| COVID-19 research v0.36 | EPCAM |
Ellen McDonagh gene: EPCAM was added gene: EPCAM was added to Viral susceptibility. Sources: Expert Review Red,GOSH PID v.8.0 Mode of inheritance for gene: EPCAM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EPCAM were set to Diarrhea 5, with tufting enteropathy, congenital |
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| COVID-19 research v0.36 | DEF6 |
Ellen McDonagh gene: DEF6 was added gene: DEF6 was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: DEF6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DEF6 were set to 32086639; 31308374; 32048120 Phenotypes for gene: DEF6 were set to DEF6 deficiency; Diseases of Immune Dysregulation; Enteropathy, hepatosplenomegaly, cardiomyopathy, recurrent infections |
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| COVID-19 research v0.36 | DBR1 |
Ellen McDonagh gene: DBR1 was added gene: DBR1 was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: DBR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DBR1 were set to 32086639; 32048120 Phenotypes for gene: DBR1 were set to DBR1 deficiency; HSE of the brainstem. Other viral infections of the brainstem; Defects in intrinsic and innate immunity |
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| COVID-19 research v0.36 | CLCN7 |
Ellen McDonagh gene: CLCN7 was added gene: CLCN7 was added to Viral susceptibility. Sources: Expert Review Red,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: CLCN7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLCN7 were set to 32086639; 32048120 Phenotypes for gene: CLCN7 were set to Defects in Intrinsic and Innate Immunity; Osteopetrosis with hypocalcemia, neurologic features |
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| COVID-19 research v0.36 | C8G |
Ellen McDonagh gene: C8G was added gene: C8G was added to Viral susceptibility. Sources: ESID Registry 20171117,Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification December 2019,Expert Review Red,IUIS Classification February 2018 Mode of inheritance for gene: C8G was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C8G were set to 32086639; 32048120 Phenotypes for gene: C8G were set to Complement Deficiencies; Complement factor 8 defect; Complement component 8 deficiency; Disseminated neisserial infections |
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| COVID-19 research v0.36 | C17orf62 |
Ellen McDonagh gene: C17orf62 was added gene: C17orf62 was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: C17orf62 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C17orf62 were set to 30312704; 30361506; 32086639; 32048120 Phenotypes for gene: C17orf62 were set to Autosomal recessive CGD EROS; Congenital defects of phagocyte number or function |
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| COVID-19 research v0.36 | BRCA2 |
Ellen McDonagh gene: BRCA2 was added gene: BRCA2 was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BRCA2 were set to 32086639; 32048120 Phenotypes for gene: BRCA2 were set to Fanconi anemia, complementation group D1, 605724; Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage; Fanconi Anemia Type D1; Bone marrow failure |
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| COVID-19 research v0.36 | BRCA1 |
Ellen McDonagh gene: BRCA1 was added gene: BRCA1 was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: BRCA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BRCA1 were set to 32086639; 32048120 Phenotypes for gene: BRCA1 were set to Fanconi Anemia Type S; Fanconi anemia, complementation group S, 617883; normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage; Bone marrow failure |
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| COVID-19 research v0.36 | BLOC1S6 |
Ellen McDonagh gene: BLOC1S6 was added gene: BLOC1S6 was added to Viral susceptibility. Sources: Victorian Clinical Genetics Services, London North GLH,GRID V2.0,NHS GMS,GRID V2.0North West GLH,Expert Review Red Mode of inheritance for gene: BLOC1S6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BLOC1S6 were set to 224,614,752,030,146,000,000,000 Phenotypes for gene: BLOC1S6 were set to Immune Dysregulation; Hermansky-pudlak syndrome 9, 614171; HPS9, palladin deficiency (NK cell defect) |
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| COVID-19 research v0.36 | ARHGEF1 |
Ellen McDonagh gene: ARHGEF1 was added gene: ARHGEF1 was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: ARHGEF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARHGEF1 were set to 32086639; 30521495; 32048120 Phenotypes for gene: ARHGEF1 were set to Recurrent infections, bronchiectasis; Immunodeficiency 62, 618459; ARHGEF1 deficiency; Predominantly Antibody Deficiencies |
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| COVID-19 research v0.36 | AP3D1 |
Ellen McDonagh gene: AP3D1 was added gene: AP3D1 was added to Viral susceptibility. Sources: Expert Review Red,Literature,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: AP3D1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP3D1 were set to 26744459; 32086639; 32048120 Phenotypes for gene: AP3D1 were set to neutropenia; Immunodeficient HPS; seizures; Diseases of Immune Dysregulation; Hermansky-Pudlak syndrome with neutropenia; neuordevelopmental delay; albinism; ?Hermansky-Pudlak syndrome 10, 617050; Hermansky-Pudlak syndrome; Oculocutaneous albinism, recurrent infections, seizures, hearing loss and neurodevelopmental delay; Oculocutaneous albinism, severe neutropenia, recurrent infections, seizures, hearing loss and neurodevelopmental delay; HSP10 |
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| COVID-19 research v0.36 | ALPI |
Ellen McDonagh gene: ALPI was added gene: ALPI was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: ALPI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALPI were set to 32086639; 32048120; 29567797 Phenotypes for gene: ALPI were set to Inflammatory bowel disease; ALPI deficiency; Autoinflammatory Disorders |
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| COVID-19 research v0.36 | WDR1 |
Ellen McDonagh gene: WDR1 was added gene: WDR1 was added to Viral susceptibility. Sources: North West GLH,NHS GMS,London North GLH,IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: WDR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR1 were set to 32086639; 32048120; 27557945 Phenotypes for gene: WDR1 were set to Mild neutropenia, poor wound healing, severe stomatitis, neutrophil nuclei herniate; Congenital defects of phagocyte number or function |
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| COVID-19 research v0.36 | USP18 |
Ellen McDonagh gene: USP18 was added gene: USP18 was added to Viral susceptibility. Sources: North West GLH,NHS GMS,London North GLH,IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: USP18 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: USP18 were set to 32086639; 32048120; 31272490; 27325888 Phenotypes for gene: USP18 were set to Pseudo-TORCH syndrome 2, 617397; Autoinflammatory Disorders; TORCH like syndrome |
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| COVID-19 research v0.36 | TNFRSF13C |
Ellen McDonagh gene: TNFRSF13C was added gene: TNFRSF13C was added to Viral susceptibility. Sources: ESID Registry 20171117,Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: TNFRSF13C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNFRSF13C were set to 32086639; 32048120 Phenotypes for gene: TNFRSF13C were set to Immunodeficiency, common variable, 4; Variable clinical expression; Isolated IgG subclass deficiency; Common variable immunodeficiency disorders (CVID); Predominantly Antibody Deficiencies |
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| COVID-19 research v0.36 | TNFRSF11A |
Ellen McDonagh gene: TNFRSF11A was added gene: TNFRSF11A was added to Viral susceptibility. Sources: North West GLH,NHS GMS,London North GLH,IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: TNFRSF11A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNFRSF11A were set to 32086639; 32048120 Phenotypes for gene: TNFRSF11A were set to Osteopetrosis; Defects in intrinsic and innate immunity; Defects in Intrinsic and Innate Immunity |
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| COVID-19 research v0.36 | TAPBP |
Ellen McDonagh gene: TAPBP was added gene: TAPBP was added to Viral susceptibility. Sources: ESID Registry 20171117,Victorian Clinical Genetics Services,GRID V2.0,GOSH PID v.8.0,IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: TAPBP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAPBP were set to 32086639; 32048120; 12149238 Phenotypes for gene: TAPBP were set to Bare lymphocyte syndrome, type I 604571; Vasculitis, pyoderma gangrenosum; HLA class I deficiency; Immunodeficiencies affecting cellular and humoral immunity; Vasculitis,pyoderma gangrenosum |
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| COVID-19 research v0.36 | RHOH |
Ellen McDonagh gene: RHOH was added gene: RHOH was added to Viral susceptibility. Sources: ESID Registry 20171117,Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: RHOH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RHOH were set to 22850876; 32086639; 32048120; 24189071 Phenotypes for gene: RHOH were set to T cell deficiency and various infectious diseases; Combined immunodeficiency; HPV infection, lung granulomas, molluscum contagiosum, lymphoma; Epidermodysplasia verruciformis; Immunodeficiencies affecting cellular and humoral immunity; RhoH deficiency |
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| COVID-19 research v0.36 | PSMB9 |
Ellen McDonagh gene: PSMB9 was added gene: PSMB9 was added to Viral susceptibility. Sources: Victorian Clinical Genetics Services,North West GLH,NHS GMS,London North GLH,Expert Review Amber Mode of inheritance for gene: PSMB9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSMB9 were set to 26524591 Phenotypes for gene: PSMB9 were set to CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome); Autoinflammation, lipodystrophy, and dermatosis syndrome |
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| COVID-19 research v0.36 | PSMB4 |
Ellen McDonagh gene: PSMB4 was added gene: PSMB4 was added to Viral susceptibility. Sources: Victorian Clinical Genetics Services,North West GLH,NHS GMS,London North GLH,Expert Review Amber Mode of inheritance for gene: PSMB4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSMB4 were set to 26524591 Phenotypes for gene: PSMB4 were set to CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome) |
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| COVID-19 research v0.36 | POLE |
Ellen McDonagh gene: POLE was added gene: POLE was added to Viral susceptibility. Sources: ESID Registry 20171117,Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLE were set to 23230001 Phenotypes for gene: POLE were set to Recurrent respiratory infections, meningitis, facial dysmorphism, livido, short stature; Combined immunodeficiencies with associated or syndromic features; FILS syndrome 615139; Facial dysmorphism, immunodeficiency, livedo, and short stature (FILS syndrome) |
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| COVID-19 research v0.36 | PMS2 |
Ellen McDonagh gene: PMS2 was added gene: PMS2 was added to Viral susceptibility. Sources: ESID Registry 20171117,GRID V2.0,IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: PMS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PMS2 were set to 7661930; 9488480; 15077197; 32086639; 16507833; 10763829; 32048120 Phenotypes for gene: PMS2 were set to Recurrent infections, cafe-au-lait spots, lymphoma, colorectal carcinoma, brain tumors; Post-Meiotic Segregation 2 (PMS2) deficiency; Mismatch repair cancer syndrome 276300; Combined immunodeficiencies with associated or syndromic features; CSR defects and Hyper IgM (HIGM) syndromes; Recurrent infections, caf-au-lait spots, lymphoma, colorectal carcinoma, brain tumors |
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| COVID-19 research v0.36 | NOP10 |
Ellen McDonagh gene: NOP10 was added gene: NOP10 was added to Viral susceptibility. Sources: ESID Registry 20171117,Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: NOP10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NOP10 were set to 17507419 Phenotypes for gene: NOP10 were set to Dyskeratosis congenita; Hoyeraal-Hreidarsson syndrome; Dyskeratosis congenita 1; Dyskeratosis congenita, autosomal recessive 1 224230; Combined immunodeficiencies with associated or syndromic features; Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients |
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| COVID-19 research v0.36 | IRF9 |
Ellen McDonagh gene: IRF9 was added gene: IRF9 was added to Viral susceptibility. Sources: Expert Review,Expert Review Amber Mode of inheritance for gene: IRF9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IRF9 were set to 30143481; 30826365 Phenotypes for gene: IRF9 were set to Immunodeficiency 65, susceptibility to viral infections, 618648 |
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| COVID-19 research v0.36 | IRF7 |
Ellen McDonagh Mode of inheritance for gene IRF7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Severe influenza; ?Immunodeficiency 39, 616345; Severe influenza disease; IRF7 deficiency; Defects in Intrinsic and Innate Immunity for gene: IRF7 Publications for gene IRF7 were updated from 26621750 to 26761402; 9315633; 32086639; 25814066; 32048120; 26621750 |
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| COVID-19 research v0.36 | IL21 |
Ellen McDonagh gene: IL21 was added gene: IL21 was added to Viral susceptibility. Sources: Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: IL21 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL21 were set to 32086639; 24746753; 32048120 Phenotypes for gene: IL21 were set to Immunodeficiency, common variable, 11, 615767; Severe early onset colitis, recurrent sinopulmonary infections; Immunodeficiencies affecting cellular and humoral immunity |
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| COVID-19 research v0.36 | IGKC |
Ellen McDonagh gene: IGKC was added gene: IGKC was added to Viral susceptibility. Sources: ESID Registry 20171117,GRID V2.0,IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: IGKC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IGKC were set to 32086639; 32048120; 4185453 Phenotypes for gene: IGKC were set to Immunoglobulin chain deficiencies; Kappa light chain deficiency, 614102; Asymptomatic; Predominantly Antibody Deficiencies |
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| COVID-19 research v0.36 | FPR1 |
Ellen McDonagh gene: FPR1 was added gene: FPR1 was added to Viral susceptibility. Sources: ESID Registry 20171117,Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: FPR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FPR1 were set to 20203610; 28371599; 8224916; 29105764; 2910576; 10882119; 32086639; 32048120 Phenotypes for gene: FPR1 were set to Periodontitis only; Congenital defects of phagocyte number or function; Periodontitis; Localized juvenile peridontitis |
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| COVID-19 research v0.36 | FCGR3A |
Ellen McDonagh Mode of inheritance for gene FCGR3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes severe herpes viral infections, particularly VZV, Epstein Barr virus (EBV), and (HPV); CD16 deficiency; predisposition to severe viral infection; Immunodeficiency 20, 615707; Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity; Defects in Intrinsic and Innate Immunity; Fc receptor deficiencies for gene: FCGR3A Publications for gene FCGR3A were updated from to 8609432; 23006327; 32086639; 8608639; 32048120; 8874200 |
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| COVID-19 research v0.36 | DNASE1L3 |
Ellen McDonagh gene: DNASE1L3 was added gene: DNASE1L3 was added to Viral susceptibility. Sources: North West GLH,NHS GMS,London North GLH,IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: DNASE1L3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNASE1L3 were set to 27821515; 23666765; 22019780; 32086639; 32048120 Phenotypes for gene: DNASE1L3 were set to Systemic lupus erythematosus 16, 614420; Autoinflammatory Disorders; Diseases of Immune Dysregulation; familial early-onset SLE; Systemic lupus erythematosus, lupus nephritis, hypocomplementemic urticarial vasculitis |
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| COVID-19 research v0.36 | CTC1 |
Ellen McDonagh gene: CTC1 was added gene: CTC1 was added to Viral susceptibility. Sources: North West GLH,NHS GMS,London North GLH,IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTC1 were set to 22267198; 32086639; 32048120 Phenotypes for gene: CTC1 were set to Cerebroretinal microangiopathy with calcifications and cysts, 612199; Combined immunodeficiencies with associated or syndromic features; Bone marrow failure; Intrauterine growth retardation, sparse graying hair, dystrophic nails, trilinear bone marrow failure, osteopenia, gastrointestinal hemorrhage due to vascular ectasia, retinal telangiectasia, intracranial calcification, abnormal telomeres |
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| COVID-19 research v0.36 | CR2 |
Ellen McDonagh gene: CR2 was added gene: CR2 was added to Viral susceptibility. Sources: ESID Registry 20171117,Victorian Clinical Genetics Services,GRID V2.0,A- or hypo-gammaglobulinaemia v1.25,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: CR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CR2 were set to 22035880; 26325596 Phenotypes for gene: CR2 were set to Recurrent infections; Lupus; Isolated IgG subclass deficiency; Immunodeficiency, common variable, 7; Common variable immunodeficiency disorders (CVID); hypogammaglobulinaemia; Predominantly Antibody Deficiencies; Immunodeficiency, common variable, 7, 614699 |
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| COVID-19 research v0.36 | CFTR |
Ellen McDonagh gene: CFTR was added gene: CFTR was added to Viral susceptibility. Sources: IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CFTR were set to 32086639; 32048120 Phenotypes for gene: CFTR were set to Congenital defects of phagocyte number or function; Respiratory infections, pancreatic insufficiency, elevated sweat chloride; Cystic fibrosis, 219700 |
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| COVID-19 research v0.36 | CD8A |
Ellen McDonagh gene: CD8A was added gene: CD8A was added to Viral susceptibility. Sources: ESID Registry 20171117,Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: CD8A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD8A were set to 11435463; 32086639; 32048120; 17658607 Phenotypes for gene: CD8A were set to Susceptibility to respiratory infections associated with CD8alpha chain mutation; Immunodeficiencies affecting cellular and humoral immunity; CD8 deficiency familial, 608957; Recurrent infections, may be asymptomatic |
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| COVID-19 research v0.36 | CD81 |
Ellen McDonagh gene: CD81 was added gene: CD81 was added to Viral susceptibility. Sources: ESID Registry 20171117,Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: CD81 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD81 were set to 27250108; 32086639; 14530327; 32048120; 20237408 Phenotypes for gene: CD81 were set to CD81 deficiency; Isolated IgG subclass deficiency; Recurrent infections, may have glomerulonephritis; Common variable immunodeficiency disorders (CVID); hypogammaglobulinaemia; Predominantly Antibody Deficiencies; Immunodeficiency, common variable 6, 613496 |
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| COVID-19 research v0.36 | CD247 |
Ellen McDonagh gene: CD247 was added gene: CD247 was added to Viral susceptibility. Sources: ESID Registry 20171117,Victorian Clinical Genetics Services,GRID V2.0,GOSH PID v.8.0,SCID v1.6,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: CD247 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD247 were set to 26690594; 17170122; 16672702; 25688246; 27555457; https://doi.org/10.14785/lpsn-2014-0012 Phenotypes for gene: CD247 were set to ?Immunodeficiency 25; T-B+ severe combined immunodeficiency due to CD3zeta; Immunodeficiency 25, 610163; Atypical Severe Combined Immunodeficiency (Atypical SCID); Nl NK, no g/d T cells; Immunodeficiencies affecting cellular and humoral immunity; T-B+ SCID; Severe combined immunodeficiency (SCID) |
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| COVID-19 research v0.36 | BCL10 |
Ellen McDonagh gene: BCL10 was added gene: BCL10 was added to Viral susceptibility. Sources: Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: BCL10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCL10 were set to 32086639; 32048120; 25365219 Phenotypes for gene: BCL10 were set to Combined immunodeficiency with B cell, T cell, and fibroblast defects; ?Immunodeficiency 37, 616098; Recurrent bacterial and viral infections, candidiasis, gastroenteritis; Immunodeficiencies affecting cellular and humoral immunity |
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| COVID-19 research v0.36 | AP1S3 |
Ellen McDonagh gene: AP1S3 was added gene: AP1S3 was added to Viral susceptibility. Sources: Victorian Clinical Genetics Services,North West GLH,NHS GMS,London North GLH,IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: AP1S3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP1S3 were set to 32086639; 32048120 Phenotypes for gene: AP1S3 were set to Pustular psoriasis, 616106; Autoinflammatory Disorders; Pustular psoriasis |
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| COVID-19 research v0.36 | ADAM17 |
Ellen McDonagh gene: ADAM17 was added gene: ADAM17 was added to Viral susceptibility. Sources: Victorian Clinical Genetics Services,North West GLH,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: ADAM17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAM17 were set to 22010916; 20603312; 25058236; 32086639; 11149563; 28930861; 32048120; 25171914 Phenotypes for gene: ADAM17 were set to IBD-1; ADAM17 deficiency; Inflammatory skin and bowel disease, neonatal, 1; Inflammatory skin and bowel disease, neonatal 1, 614328; Autoinflammatory Disorders; inflammatory skin; Early onset diarrhea and skin lesions |
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| COVID-19 research v0.36 | ZBTB24 |
Ellen McDonagh gene: ZBTB24 was added gene: ZBTB24 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: ZBTB24 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZBTB24 were set to 21906047; 21596365 Phenotypes for gene: ZBTB24 were set to Combined immunodeficiencies with associated or syndromic features; Immunodeficiency-centromeric instability-facial anomalies syndrome-2 614069; Immunodeficiency centromeric instability facial anomalies syndrome (ICF); Facial dysmorphic features, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16 |
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| COVID-19 research v0.36 | ZAP70 |
Ellen McDonagh gene: ZAP70 was added gene: ZAP70 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,SCID v1.6,IUIS Classification February 2018 Mode of inheritance for gene: ZAP70 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZAP70 were set to Selective T-cell defect; Combined immunodeficiency; Autoimmune disease, multisystem, infantile-onset, 2; Immunodeficiency 48; Severe Combined Immune Deficiency; Diseases of Immune Dysregulation; Immunodeficiencies affecting cellular and humoral immunity; Severe autoimmunity; Zap-70 deficiency; May have immune dysregulation, autoimmunity; Severe combined immunodeficiency (SCID) |
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| COVID-19 research v0.36 | WIPF1 |
Ellen McDonagh gene: WIPF1 was added gene: WIPF1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: WIPF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WIPF1 were set to 11869681; 22231303; 9405671; 14757742; 27742395 Phenotypes for gene: WIPF1 were set to WIP deficiency; ?Wiskott-Aldrich syndrome 2 614493; Wiskott-Aldrich syndrome like, WIP deficiency; Combined immunodeficiencies with associated or syndromic features; Thrombocytopenia with or without small platelets, recurrent bacterial and viral infections, eczema, bloody diarrhea, WAS protein absent |
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| COVID-19 research v0.36 | VPS45 |
Ellen McDonagh gene: VPS45 was added gene: VPS45 was added to Viral susceptibility. Sources: Expert Review Green,Victorian Clinical Genetics Services,North West GLH,Congenital neutropaenia v1.22,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: VPS45 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS45 were set to 23599270; 23738510 Phenotypes for gene: VPS45 were set to VPS45 deficiency (SCN5); Neutropenia, severe congenital 5; Congenital defects of phagocyte number or function; Extramedullary hematopoiesis, bone marrow fibrosis, nephromegaly; Neutropenia, severe congenital, 5, autosomal recessive, 615285 |
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| COVID-19 research v0.36 | VPS13B |
Ellen McDonagh gene: VPS13B was added gene: VPS13B was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,Congenital neutropaenia v1.22,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS13B were set to 24311531; 15211651; 12730828; 20461111; 15154116 Phenotypes for gene: VPS13B were set to Cohen syndrome, 216550; Congenital defects of phagocyte number or function; Dysmorphism, mental retardation, obesity, deafness, neutropenia; Cohen syndrome |
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| COVID-19 research v0.36 | USB1 |
Ellen McDonagh gene: USB1 was added gene: USB1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: USB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: USB1 were set to 20503306; 20004881 Phenotypes for gene: USB1 were set to Poikiloderma with neutropenia, 604173; Clericuzio-type poikiloderma with neutropenia syndrome; Congenital defects of phagocyte number or function; Retinopathy, developmental delay, facial dysmorphisms, poikiloderma |
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| COVID-19 research v0.36 | UNG |
Ellen McDonagh gene: UNG was added gene: UNG was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,A- or hypo-gammaglobulinaemia v1.25,IUIS Classification February 2018 Mode of inheritance for gene: UNG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UNG were set to 12958596 Phenotypes for gene: UNG were set to Hyper IgM syndrome with lymphoid hyperplasia; Immunodeficiency with hyper IgM, type 5, 608106; Enlarged lymph nodes and germinal centers; Predominantly Antibody Deficiencies; CSR defects and Hyper IgM (HIGM) syndromes; Immunodeficiency with hyper IgM, type 5 |
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| COVID-19 research v0.36 | UNC93B1 |
Ellen McDonagh Mode of inheritance for gene UNC93B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Herpetic encephalitis (HSE); Herpes simplex virus 1 encephalitis; Herpes simplex encephalitis, susceptibility to, 1; {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1} 610551; Defects in Intrinsic and Innate Immunity for gene: UNC93B1 Publications for gene UNC93B1 were updated from 26621750 to 16973841; 16415873; 29768176; 26621750 |
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| COVID-19 research v0.36 | UNC13D |
Ellen McDonagh gene: UNC13D was added gene: UNC13D was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: UNC13D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UNC13D were set to 15632205; 14622600; 16278825; 15703195; 17993578 Phenotypes for gene: UNC13D were set to Hemophagocytic lymphohistiocytosis, familial 3, 608898; Diseases of Immune Dysregulation; Familial hemophagocytic lymphohistiocytosis syndromes (FHLH); HPLH3; HLH3; FHL3; Fever, HSM, HLH, cytopenias, |
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| COVID-19 research v0.36 | TYK2 |
Ellen McDonagh gene: TYK2 was added gene: TYK2 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: TYK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TYK2 were set to 22402565; 17088085; 26304966 Phenotypes for gene: TYK2 were set to Hyper IgE syndrome (HIES); Defects in Intrinsic and Innate Immunity; Immunodeficiency 35 611521; Susceptibility to intracellular bacteria (mycobacteria, Salmonella), viruses, +/- elevated IgE |
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| COVID-19 research v0.36 | TTC7A |
Ellen McDonagh gene: TTC7A was added gene: TTC7A was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: TTC7A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC7A were set to 24292712; 23830146; 23423984; 24417819 Phenotypes for gene: TTC7A were set to Gastrointestinal defects and immunodeficiency syndrome, 243150; Immunodeficiencies with multiple intestinal atresias; Combined immunodeficiency; Combined immunodeficiency-enteropathy spectrum; Bacterial (sepsis), fungal, viral infections, multiple intestinal atresias, often with intrauterine polyhydramnios and early demise, some with SCID phenotype; Combined immunodeficiencies with associated or syndromic features; Multiple intestinal atresia and severe combined immunodeficiency |
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| COVID-19 research v0.36 | TTC37 |
Ellen McDonagh gene: TTC37 was added gene: TTC37 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,A- or hypo-gammaglobulinaemia v1.25,IUIS Classification February 2018 Mode of inheritance for gene: TTC37 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC37 were set to 29383842; 25688341; 28292286; 21120949; 28944135; 20176027 Phenotypes for gene: TTC37 were set to Recurrent bacterial and viral infections, Abnormal hair findings: trichorrhexis nodosa; Trichohepatoenteric syndrome 1, 222470; Intrauterine growth retardation, woolly hair; intractable diarrhoea in infancy requiring total parenteral nutrition; Hypogammaglobulinaemia; Predominantly Antibody Deficiencies; facial dysmorphism; immune dysfunction; Trichohepatoenteric syndrome |
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| COVID-19 research v0.36 | TRNT1 |
Ellen McDonagh gene: TRNT1 was added gene: TRNT1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRNT1 were set to 23553769; 29055896; 25193871 Phenotypes for gene: TRNT1 were set to Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084; congenital sideroblastic anemia, deafness, developmental delay; Predominantly Antibody Deficiencies; Congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD) |
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| COVID-19 research v0.36 | TRAC |
Ellen McDonagh gene: TRAC was added gene: TRAC was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: TRAC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAC were set to 3464003; 21206088 Phenotypes for gene: TRAC were set to Immunodeficiencies affecting cellular and humoral immunity; Recurrent viral, bacterial, fungal infections, immune dysregulation and autoimmunity, diarrhea; Immunodeficiency 7, TCR-alpha/beta deficient, 615387; Combined immunodeficiency |
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| COVID-19 research v0.36 | TPP2 |
Ellen McDonagh gene: TPP2 was added gene: TPP2 was added to Viral susceptibility. Sources: Expert Review Green,Victorian Clinical Genetics Services,North West GLH,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: TPP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TPP2 were set to 25525876; 25414442 Phenotypes for gene: TPP2 were set to immune thrombocytopenia and autoimmune hemolytic anemia; Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome; TPP2 deficiency; Tripeptidyl-Peptidase II Deficiency; Diseases of Immune Dysregulation; Evans syndrome; Variable lymphoproliferation, severe autoimmune cytopenias, hypergammaglobulinemia, recurrent infections |
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| COVID-19 research v0.36 | TMC8 |
Ellen McDonagh Mode of inheritance for gene TMC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes HPV (group B1) infections and cancer of the skin (typical EV); Epidermodysplasia verruciformis, 226400; Defects in Intrinsic and Innate Immunity for gene: TMC8 Publications for gene TMC8 were updated from 26621750 to 15356576; 28196644; 12426567; 26997147; 28646613; 26621750 |
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| COVID-19 research v0.36 | TMC6 |
Ellen McDonagh Mode of inheritance for gene TMC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Human papillomavirus (HPV) (group B1) infections and cancer of the skin (typical EV); Epidermodysplasia verruciformis, 226400; Defects in Intrinsic and Innate Immunity for gene: TMC6 Publications for gene TMC6 were updated from 26621750 to 15356576; 28196644; 15042430; 12426567; 17008061; 26621750 |
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| COVID-19 research v0.36 | TCN2 |
Ellen McDonagh gene: TCN2 was added gene: TCN2 was added to Viral susceptibility. Sources: Expert Review Green,Agranulocytosis v1.3,Combined B and T cell defect v1.12,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,Congenital neutropaenia v1.22,GRID V2.0,NHS GMS,London North GLH,A- or hypo-gammaglobulinaemia v1.25,SCID v1.6,IUIS Classification February 2018 Mode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCN2 were set to 20352340; 24305960; 7849710; 7980584; 18956254 Phenotypes for gene: TCN2 were set to Transcobalamin-2 precursor; Transcobalamin II deficiency; Agammaglobulinemia; Megaloblastic anemia, pancytopenia, if untreated for prolonged periods results in intellectual disability; pancytopenia; Transcobalamin II deficiency, 275350; neutropenic colitis; Defects of Vitamin B12 and Folate metabolism; megaloblastic bone; can have a presentation similar to severe combined immunodeficiency; Combined immunodeficiencies with associated or syndromic features |
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| COVID-19 research v0.36 | TAP2 |
Ellen McDonagh gene: TAP2 was added gene: TAP2 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: TAP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAP2 were set to 10560675; 11529920; 20083708; 7517574 Phenotypes for gene: TAP2 were set to Vasculitis, pyoderma gangrenosum; Bare lymphocyte syndrome, type I, due to TAP2 deficiency 604571; HLA class I deficiency; Immunodeficiencies affecting cellular and humoral immunity; Wegener-like granulomatosis |
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| COVID-19 research v0.36 | TAP1 |
Ellen McDonagh gene: TAP1 was added gene: TAP1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: TAP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TAP1 were set to HLA class I deficiency; Immunodeficiencies affecting cellular and humoral immunity; Vasculitis, pyoderma gangrenosum; Bare lymphocyte syndrome, type I 604571 |
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| COVID-19 research v0.36 | STXBP2 |
Ellen McDonagh gene: STXBP2 was added gene: STXBP2 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STXBP2 were set to 19804848; 19884660; 20301617; 20798128 Phenotypes for gene: STXBP2 were set to Hemophagocytic lymphohistiocytosis, familial 5, 613101; Diseases of Immune Dysregulation; Fever, HSM, cHLH, cytopenias, enteropathy; FHL5; Familial hemophagocytic lymphohistiocytosis syndromes (FHLH) |
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| COVID-19 research v0.36 | STX11 |
Ellen McDonagh gene: STX11 was added gene: STX11 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: STX11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STX11 were set to 20301617; 24459464; 16582076; 16278825; 15703195 Phenotypes for gene: STX11 were set to HLH4; Hemophagocytic lymphohistiocytosis, familial 4, 603552; Diseases of Immune Dysregulation; Familial hemophagocytic lymphohistiocytosis syndromes (FHLH); FHL4; HPLH4; Fever, HSM, cHLH, cytopenias, |
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| COVID-19 research v0.36 | STK4 |
Ellen McDonagh gene: STK4 was added gene: STK4 was added to Viral susceptibility. Sources: Expert Review Green,Combined B and T cell defect v1.12,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: STK4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STK4 were set to 26801501; 22294732; 26117625; 24453252; 22174160 Phenotypes for gene: STK4 were set to Hypergammaglobulinaemia, lymphopenia, combined immunodeficiency, congenital heart disease, autoimmunity; Intermittent neutropenia, bacterial, viral (HPV), candidal infections, EBV lymphoproliferation, autoimmune cytopenias, lymphoma, congenital heart disease; Combined immunodeficiency; T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations; Immunodeficiencies affecting cellular and humoral immunity; AR hyperimmunoglobulin E syndrome |
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| COVID-19 research v0.36 | STIM1 |
Ellen McDonagh gene: STIM1 was added gene: STIM1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,SCID v1.6,IUIS Classification February 2018 Mode of inheritance for gene: STIM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STIM1 were set to 20876309; 19420366; 24621671; 26560041; 22190180 Phenotypes for gene: STIM1 were set to Immunodeficiency 10, 612783; Combined immunodeficiency due to STIM1 deficiency ORPHA:317430; Combined immunodeficiency; Combined immunodeficiency due to STIM1 deficiency; Autoimmunity, EDA, non-progressive myopathy; T-B+ SCID; Combined immunodeficiencies with associated or syndromic features |
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| COVID-19 research v0.36 | STAT5B |
Ellen McDonagh gene: STAT5B was added gene: STAT5B was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,SCID v1.6,IUIS Classification February 2018 Mode of inheritance for gene: STAT5B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STAT5B were set to 13679528; 20538865; 16787985; 17030597; 26703237; 15827093; 17389811; 16920911 Phenotypes for gene: STAT5B were set to Combined immunodeficiency; T-B+ SCID; Growth-hormone insensitive dwarfism, dysmorphic features, eczema, lymphocytic interstitial pneumonitis, autoimmunity; Growth hormone insensitivity with immunodeficiency 245590; Combined immunodeficiencies with associated or syndromic features |
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| COVID-19 research v0.36 | STAT2 |
Ellen McDonagh Mode of inheritance for gene STAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes STAT2 deficiency; Predisposition to several viral infection; Severe viral infections (disseminated vaccine-strain measles); Defects in Intrinsic and Innate Immunity; Immunodeficiency 44, 616636 for gene: STAT2 Publications for gene STAT2 were updated from to 23391734; 26122121; 28087227 |
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| COVID-19 research v0.36 | SPPL2A |
Ellen McDonagh gene: SPPL2A was added gene: SPPL2A was added to Viral susceptibility. Sources: Expert Review Green,Expert Review,North West GLH,NHS GMS,London North GLH,Literature Mode of inheritance for gene: SPPL2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPPL2A were set to 30264912; 30127434 Phenotypes for gene: SPPL2A were set to Defects with susceptibility to mycobacterial infection (MSMD); Defects in Intrinsic and Innate Immunity; Susceptibility to mycobacteria |
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| COVID-19 research v0.36 | SPINK5 |
Ellen McDonagh gene: SPINK5 was added gene: SPINK5 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPINK5 were set to 19683336; 28943498; 10835624; 28832989; 28289593 Phenotypes for gene: SPINK5 were set to Combined immunodeficiencies with associated or syndromic features; Netherton syndrome 256500; Congenital ichthyosis, bamboo hair, atopic diathesis, increased bacterial infections, failure to thrive |
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| COVID-19 research v0.36 | SP110 |
Ellen McDonagh gene: SP110 was added gene: SP110 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: SP110 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SP110 were set to 16648851 Phenotypes for gene: SP110 were set to Combined immunodeficiencies with associated or syndromic features; Hepatic veno-occlusive disease, Susceptibility to Pneumocystis jirovecii pneumonia, CMV, candida, thrombocytopenia, hepatosplenomegaly, cerebrospinal leukodystrophy; Hepatic venoocclusive disease with immunodeficiency 235550; Hepatic venoocclusive disease with immunodeficiency (VODI) |
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| COVID-19 research v0.36 | SMARCAL1 |
Ellen McDonagh gene: SMARCAL1 was added gene: SMARCAL1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMARCAL1 were set to 17089404; 11799392 Phenotypes for gene: SMARCAL1 were set to Schimke disease; Combined immunodeficiencies with associated or syndromic features; Schimke immunoosseous dysplasia 242900; Short stature, spondiloepiphyseal dysplasia, intrauterine growth retardation, nephropathy, bacterial, viral, fungal infections, may present as SCID, bone marrow failure |
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| COVID-19 research v0.36 | SLC46A1 |
Ellen McDonagh gene: SLC46A1 was added gene: SLC46A1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC46A1 were set to 17446347; 17129779; 27664775 Phenotypes for gene: SLC46A1 were set to Folate malabsorption, hereditary 229050; Congenital defect of folate absorption; Megaloblastic anemia, failure to thrive, if untreated for prolonged periods results in intellectual disability; Defects of Vitamin B12 and Folate metabolism; Combined immunodeficiencies with associated or syndromic features |
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| COVID-19 research v0.36 | SLC37A4 |
Ellen McDonagh gene: SLC37A4 was added gene: SLC37A4 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,Congenital neutropaenia v1.22,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: SLC37A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC37A4 were set to 9428641; 10482962; 12576310 Phenotypes for gene: SLC37A4 were set to Glycogen storage disease Ib; Congenital defects of phagocyte number or function; Glycogen storage disease Ib, 232220; Glycogen storage disease type 1b (GS1b); Glycogen storage disease with or without neutropenia; Glycogen storage disease Ic; Fasting hypoglycemia, lactic acidosis, hyperlipidemia, hepatomegaly |
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| COVID-19 research v0.36 | SLC35C1 |
Ellen McDonagh gene: SLC35C1 was added gene: SLC35C1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: SLC35C1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC35C1 were set to 11326279; 24403049; 11213799; 12116250; 11326280; 1279426 Phenotypes for gene: SLC35C1 were set to Mild LAD type 1 features with hh-blood group, growth retardation, developmental delay; Congenital defects of phagocyte number or function; Leukocyte adhesion deficiency (LAD); Congenital disorder of glycosylation, type IIc 266265 |
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| COVID-19 research v0.36 | SLC29A3 |
Ellen McDonagh gene: SLC29A3 was added gene: SLC29A3 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC29A3 were set to 22875837; 16650224; 16155931; 20140240; 18947330; 17461801; 19336477; 16118898; 21178579; 19175903; 9545394; 21888995; 22238637; 23530176; 22653152; 18940313; 20619369 Phenotypes for gene: SLC29A3 were set to Other autoinflammatory diseases with known genetic defect; Hyperpigmentation hypertrichosis, histiocytosis-lymphadenopathy plus syndrome; Autoinflammatory Disorders; Histiocytosis-lymphadenopathy plus syndrome 602782 |
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| COVID-19 research v0.36 | SKIV2L |
Ellen McDonagh gene: SKIV2L was added gene: SKIV2L was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,NHS GMS,GOSH PID v.8.0,London North GLH Mode of inheritance for gene: SKIV2L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SKIV2L were set to 28944135; 29145277; 29484573 Phenotypes for gene: SKIV2L were set to Trichohepatoenteric syndrome 2,614602; Immune dysfunction; Trichohepatoenteric syndrome |
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| COVID-19 research v0.36 | SGPL1 |
Ellen McDonagh gene: SGPL1 was added gene: SGPL1 was added to Viral susceptibility. Sources: Expert Review Green,Combined B and T cell defect v1.12,North West GLH,NHS GMS,London North GLH Mode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SGPL1 were set to 28181337; 28165343; 28165339 Phenotypes for gene: SGPL1 were set to drenal insufficiency; focal segmental glomerulosclerosis; steroid-resistant nephrotic syndrome; Nephrotic syndrome 14, 617575; lymphopenia |
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| COVID-19 research v0.36 | SBDS |
Ellen McDonagh gene: SBDS was added gene: SBDS was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,Congenital neutropaenia v1.22,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SBDS were set to 14749921; 12496757; 11342425 Phenotypes for gene: SBDS were set to Shwachman-Bodian-Diamond syndrome; Shwachman-Diamond-syndrome; Shwachman-Diamond syndrome, 260400; Congenital defects of phagocyte number or function; Pancytopenia, exocrine pancreatic insufficiency, chondrodysplasia |
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| COVID-19 research v0.36 | SAMHD1 |
Ellen McDonagh gene: SAMHD1 was added gene: SAMHD1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SAMHD1 were set to 19525956; 20358604; 21102625 Phenotypes for gene: SAMHD1 were set to Classical AGS, FCL; Autoinflammatory Disorders; Type 1 interferonopathies; Aicardi-Goutieres syndrome 5 612952 |
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| COVID-19 research v0.36 | RORC |
Ellen McDonagh gene: RORC was added gene: RORC was added to Viral susceptibility. Sources: Expert Review Green,Victorian Clinical Genetics Services,North West GLH,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: RORC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RORC were set to 26160376 Phenotypes for gene: RORC were set to Immunodeficiency 42 616622; Susceptibility to mycobacteria and candida; Defects in Intrinsic and Innate Immunity; Susceptibility to candidasis & Mycobacterial infection |
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| COVID-19 research v0.36 | RNF168 |
Ellen McDonagh gene: RNF168 was added gene: RNF168 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: RNF168 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNF168 were set to 21394101; 19203578; 29255463 Phenotypes for gene: RNF168 were set to Combined immunodeficiencies with associated or syndromic features; RNF168 deficiency; Short stature, mild defect of motor control to ataxia, normal intelligence to learning difficulties, mild facial dysmorphism to microcephaly, increased radiosensitivity; RIDDLE syndrome 611943 |
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| COVID-19 research v0.36 | RNASEH2C |
Ellen McDonagh gene: RNASEH2C was added gene: RNASEH2C was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH2C were set to 23322642; 16845400; 25604658; 17846997 Phenotypes for gene: RNASEH2C were set to Aicardi-Goutieres syndrome 3 610329; Autoinflammatory Disorders; Type 1 interferonopathies; Classical AGS |
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| COVID-19 research v0.36 | RNASEH2B |
Ellen McDonagh gene: RNASEH2B was added gene: RNASEH2B was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNASEH2B were set to Aicardi-Goutieres syndrome 2 610181; Autoinflammatory Disorders; Type 1 interferonopathies; Classical AGS, SP |
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| COVID-19 research v0.36 | RNASEH2A |
Ellen McDonagh gene: RNASEH2A was added gene: RNASEH2A was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH2A were set to 23592335; 16845400; 21454563 Phenotypes for gene: RNASEH2A were set to Autoinflammatory Disorders; Classical AGS; Aicardi-Goutieres syndrome 4 610333, Lupus; Type 1 interferonopathies |
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| COVID-19 research v0.36 | RMRP |
Ellen McDonagh gene: RMRP was added gene: RMRP was added to Viral susceptibility. Sources: Expert Review Green,Combined B and T cell defect v1.12,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RMRP were set to 26830278; 2328993; 3582365; 24217815; 26279652; 25663137 Phenotypes for gene: RMRP were set to Short-limbed dwarfism with metaphyseal dysostosis, sparse hair, bone marrow failure, autoimmunity, susceptibility to lymphoma and other cancers, impaired spermatogenesis, neuronal dysplasia of the intestine; Cartilage hair hypoplasia; Cartilage-hair hypoplasia; Anauxetic dysplasia 1, 232220; Omenn syndrome; Cartilage-hair hypoplasia, with or without immunodeficiency; Combined immunodeficiencies with associated or syndromic features |
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| COVID-19 research v0.36 | RIPK1 |
Ellen McDonagh gene: RIPK1 was added gene: RIPK1 was added to Viral susceptibility. Sources: Expert Review Green,North West GLH,NHS GMS,London North GLH,Literature Mode of inheritance for gene: RIPK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RIPK1 were set to 30026316 Phenotypes for gene: RIPK1 were set to Severe immunodeficiency, arthritis, and intestinal inflammation; Immunodeficiency 57, 618108 |
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| COVID-19 research v0.36 | RFXAP |
Ellen McDonagh gene: RFXAP was added gene: RFXAP was added to Viral susceptibility. Sources: Expert Review Green,Combined B and T cell defect v1.12,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: RFXAP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RFXAP were set to 12498778; 9287230; 18336911; 22390233; 20197681; 9118943; 9806639 Phenotypes for gene: RFXAP were set to HLA class II deficiency; Combined immunodeficiency (MHC class II deficiency, bare lymphocyte syndrome); Bare lymphocyte syndrome, type II, complementation group D; Immunodeficiencies affecting cellular and humoral immunity; Respiratory and gastrointestinal infections, liver/biliary tract disease |
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| COVID-19 research v0.36 | RFXANK |
Ellen McDonagh gene: RFXANK was added gene: RFXANK was added to Viral susceptibility. Sources: Expert Review Green,Combined B and T cell defect v1.12,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: RFXANK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RFXANK were set to 22863278; 11313409; 12618906; 20414676; 9806546 Phenotypes for gene: RFXANK were set to HLA class II deficiency; Combined immunodeficiency (MHC class II deficiency, bare lymphocyte syndrome); MHC class II deficiency, complementation group B; Immunodeficiencies affecting cellular and humoral immunity; Respiratory and gastrointestinal infections, liver/biliary tract disease |
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| COVID-19 research v0.36 | RFX5 |
Ellen McDonagh gene: RFX5 was added gene: RFX5 was added to Viral susceptibility. Sources: Expert Review Green,Combined B and T cell defect v1.12,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: RFX5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RFX5 were set to 9401005; 7744245 Phenotypes for gene: RFX5 were set to HLA class II deficiency; Combined immunodeficiency; Bare lymphocyte syndrome (MHC class II deficiency); Bare lymphocyte syndrome, type II, complementation group E; Immunodeficiencies affecting cellular and humoral immunity; Respiratory and gastrointestinal infections, liver/biliary tract disease; Bare lymphocyte syndrome, type II, complementation group C |
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| COVID-19 research v0.36 | RBCK1 |
Ellen McDonagh gene: RBCK1 was added gene: RBCK1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RBCK1 were set to 23104095; 29260357 Phenotypes for gene: RBCK1 were set to Other autoinflammatory diseases with known genetic defect; HOIL1 deficiency; Polyglucosan body myopathy, early-onset, with or without immunodeficiency 615895; Bacterial infections, autoinflammation, amylopectinosis; Combined immunodeficiencies with associated or syndromic features |
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| COVID-19 research v0.36 | RASGRP1 |
Ellen McDonagh gene: RASGRP1 was added gene: RASGRP1 was added to Viral susceptibility. Sources: Expert Review Green,North West GLH,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: RASGRP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RASGRP1 were set to 27776107; 28822832; 30030704; 29282224; 29155103 Phenotypes for gene: RASGRP1 were set to Recurrent pneumonia, herpesvirus infections, EBV associated lymphoma; Immunodeficiency 64, 618534; Diseases of Immune Dysregulation; Immunodeficiency; EBV-induced lymphoma; immunde dysregulation |
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| COVID-19 research v0.36 | RAG2 |
Ellen McDonagh gene: RAG2 was added gene: RAG2 was added to Viral susceptibility. Sources: Expert Review Green,Combined B and T cell defect v1.12,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,SCID v1.6,IUIS Classification February 2018 Mode of inheritance for gene: RAG2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAG2 were set to Nl NK; Severe combined immunodeficiency, B cell-negative, 601457; Severe Combined Immune Deficiency; Atypical Severe Combined Immunodeficiency (Atypical SCID); Immunodeficiencies affecting cellular and humoral immunity; T-B+ SCID; Severe combined immunodeficiency, B cell-negative; Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive; Omenn syndrome; Severe combined immunodeficiency (SCID); T-B- SCID; RAG2 deficiency |
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| COVID-19 research v0.36 | RAG1 |
Ellen McDonagh gene: RAG1 was added gene: RAG1 was added to Viral susceptibility. Sources: Expert Review Green,Combined B and T cell defect v1.12,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,SCID v1.6,IUIS Classification February 2018 Mode of inheritance for gene: RAG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAG1 were set to Nl NK; Severe combined immunodeficiency, B cell-negative, 601457; Severe Combined Immune Deficiency; Atypical Severe Combined Immunodeficiency (Atypical SCID); Immunodeficiencies affecting cellular and humoral immunity; T-B+ SCID; Severe combined immunodeficiency, B cell-negative; Omenn syndrome; Severe combined immunodeficiency (SCID); T-B- SCID; RAG1 deficiency |
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| COVID-19 research v0.36 | RAB27A |
Ellen McDonagh gene: RAB27A was added gene: RAB27A was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: RAB27A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAB27A were set to 12058346; 12531900; 12522785; 15163896 Phenotypes for gene: RAB27A were set to Diseases of Immune Dysregulation; Partial albinism, fever, HSM, HLH, cytopenias; Griscelli syndrome, type 2 607624 |
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| COVID-19 research v0.36 | PTPRC |
Ellen McDonagh gene: PTPRC was added gene: PTPRC was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,SCID v1.6,IUIS Classification February 2018 Mode of inheritance for gene: PTPRC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTPRC were set to 11145714; 10700239; 22689986 Phenotypes for gene: PTPRC were set to Nl g/d T cells; {Hepatitic C virus, susceptibility to}, 609532; CD45 deficiency; Immunodeficiencies affecting cellular and humoral immunity; T-B+ SCID; Omenn syndrome; Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive; Severe combined immunodeficiency (SCID) |
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| COVID-19 research v0.36 | PSMB8 |
Ellen McDonagh gene: PSMB8 was added gene: PSMB8 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: PSMB8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSMB8 were set to 21129723; 21953331; 21852578; 21881205 Phenotypes for gene: PSMB8 were set to Other autoinflammatory diseases with known genetic defect; chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE); Contractures, panniculitis, ICC, fevers; Autoinflammatory Disorders; Autoinflammation, lipodystrophy, and dermatosis syndrome 256040; CANDLE syndrome |
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| COVID-19 research v0.36 | PRKDC |
Ellen McDonagh gene: PRKDC was added gene: PRKDC was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,SCID v1.6,IUIS Classification February 2018 Mode of inheritance for gene: PRKDC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRKDC were set to 23722905; 19075392; 25842288 Phenotypes for gene: PRKDC were set to Immunodeficiency 26, with or without neurologic abnormalities; DNA Pkcs deficiency; Combined immunodeficiency; Immunodeficiency, with or without neurologic abnormalities; Nl NK, radiation sensitive, microcephaly; Immunodeficiencies affecting cellular and humoral immunity; Severe combined immunodeficiency (SCID) |
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| COVID-19 research v0.36 | PRKCD |
Ellen McDonagh gene: PRKCD was added gene: PRKCD was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: PRKCD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRKCD were set to 23430113; 23319571; 23666743 Phenotypes for gene: PRKCD were set to Recurrent infections, EBV chronic infection, lymphoproliferation, SLE-like autoimmunity (nephrotic and antiphospholipid syndromes), low IgG; Autoimmune lymphoproliferative syndrome, type III 615559; Diseases of Immune Dysregulation; Unclassified antibody deficiency; Immunodeficiency, common variable, 9; Autoimmune lymphoproliferative syndrome (ALPS) |
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| COVID-19 research v0.36 | PRF1 |
Ellen McDonagh gene: PRF1 was added gene: PRF1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRF1 were set to 15365097; 11179007; 15632205; 20301617; 10583959; 14757862; 12229880; 16860143 Phenotypes for gene: PRF1 were set to Fever, HSM, Hemophagocytic lymphohistiocytosis (HLH), cytopenias; FHL2; HPLH2; Familial hemophagocytic lymphohistiocytosis syndromes (FHLH); Diseases of Immune Dysregulation; Hemophagocytic lymphohistiocytosis, familial 2, 603553; HLH2 |
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| COVID-19 research v0.36 | PNP |
Ellen McDonagh gene: PNP was added gene: PNP was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,SCID v1.6,IUIS Classification February 2018 Mode of inheritance for gene: PNP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNP were set to Combined immunodeficiency; Autoimmune haemolytic anemia, neurological impairment; Immunodeficiency due to purine nucleoside phosphorylase deficiency; Atypical Severe Combined Immunodeficiency (Atypical SCID); T-B+ SCID; Combined immunodeficiencies with associated or syndromic features |
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| COVID-19 research v0.36 | PGM3 |
Ellen McDonagh gene: PGM3 was added gene: PGM3 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: PGM3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGM3 were set to 24698316; 24589341; 24931394 Phenotypes for gene: PGM3 were set to Immunodeficiency 23 615816; Combined immunodeficiencies with associated or syndromic features; Severe atopy, autoimmunity, bacterial and viral infections, skeletal anomalies dysplasia: short stature, brachydactyly, dysmorphic facial features, and intellectual disability cognitive impairment, hypomyelination; Combined immunodeficiency |
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| COVID-19 research v0.36 | PEPD |
Ellen McDonagh gene: PEPD was added gene: PEPD was added to Viral susceptibility. Sources: Expert Review Green,North West GLH,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: PEPD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEPD were set to 6637477; 19308961; 15309682; 17142620; 8900231; 1972707; 2365824; 16470701 Phenotypes for gene: PEPD were set to Prolidase deficiency, 170100; Autoantibodies common, chronic skin ulcers, eczema, infections; Diseases of Immune Dysregulation |
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| COVID-19 research v0.36 | OTULIN |
Ellen McDonagh gene: OTULIN was added gene: OTULIN was added to Viral susceptibility. Sources: Expert Review Green,Expert Review,Victorian Clinical Genetics Services,North West GLH,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: OTULIN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OTULIN were set to 27559085; 27523608 Phenotypes for gene: OTULIN were set to Autoinflammation, panniculitis, and dermatosis syndrome, 617099; Fever, diarrhea , dermatitis; Autoinflammatory Disorders |
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| COVID-19 research v0.36 | ORAI1 |
Ellen McDonagh gene: ORAI1 was added gene: ORAI1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,SCID v1.6,IUIS Classification February 2018 Mode of inheritance for gene: ORAI1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ORAI1 were set to 16582901; 20004786 Phenotypes for gene: ORAI1 were set to Combined immunodeficiency; immunodeficiency, ectodermal dysplasia and myopathy; Immunodeficiency 9 612782; Autoimmunity, EDA, non-progressive myopathy; T-B+ SCID; Combined immunodeficiencies with associated or syndromic features |
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| COVID-19 research v0.36 | NSMCE3 |
Ellen McDonagh gene: NSMCE3 was added gene: NSMCE3 was added to Viral susceptibility. Sources: Expert Review Green,North West GLH,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: NSMCE3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NSMCE3 were set to 27427983 Phenotypes for gene: NSMCE3 were set to Lung disease, immunodeficiency, and chromosome breakage syndrome, 617241; Combined immunodeficiencies with associated or syndromic features; Severe lung disease (possibly viral), thymic hypoplasia, Chromosomal breakage, radiation sensitivity |
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| COVID-19 research v0.36 | NHP2 |
Ellen McDonagh gene: NHP2 was added gene: NHP2 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: NHP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NHP2 were set to 25182133; 18523010; 20301779; 20008900; 25907943 Phenotypes for gene: NHP2 were set to Dyskeratosis congenita; Hoyeraal-Hreidarsson syndrome; Dyskeratosis congenita, autosomal recessive 2 613987; Combined immunodeficiencies with associated or syndromic features; Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients |
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| COVID-19 research v0.36 | NHEJ1 |
Ellen McDonagh gene: NHEJ1 was added gene: NHEJ1 was added to Viral susceptibility. Sources: Expert Review Green,Combined B and T cell defect v1.12,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,SCID v1.6,IUIS Classification February 2018 Mode of inheritance for gene: NHEJ1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NHEJ1 were set to Combined immunodeficiency; Severe combined immunodeficiency with microcephaly, growth retardation and sensitivity to ionizing radiation, 611291; Nl NK, radiation sensitive, microcephaly; Immunodeficiencies affecting cellular and humoral immunity; Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation; T-B+ SCID; Cernunnos/XLF deficiency; T-B- SCID |
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| COVID-19 research v0.36 | NCF4 |
Ellen McDonagh gene: NCF4 was added gene: NCF4 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: NCF4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NCF4 were set to 29969437; 19692703 Phenotypes for gene: NCF4 were set to Infections, autoinflammatory phenotype; Congenital defects of phagocyte number or function; ?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III 613960; Chronic granulomatous disease (CGD); Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III |
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| COVID-19 research v0.36 | NCF2 |
Ellen McDonagh gene: NCF2 was added gene: NCF2 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: NCF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NCF2 were set to 9070911; 10498624; 7795241 Phenotypes for gene: NCF2 were set to Chronic granulomatous disease due to deficiency of NCF-2 233710; Chronic granulomatous disease (CGD); Congenital defects of phagocyte number or function; Infections, autoinflammatory phenotype |
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| COVID-19 research v0.36 | NCF1 |
Ellen McDonagh gene: NCF1 was added gene: NCF1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: NCF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NCF1 were set to 16972229; 10706888; 11133775 Phenotypes for gene: NCF1 were set to Chronic granulomatous disease due to deficiency of NCF-1 233700; Chronic granulomatous disease (CGD); Congenital defects of phagocyte number or function; Infections, autoinflammatory phenotype |
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| COVID-19 research v0.36 | NBN |
Ellen McDonagh gene: NBN was added gene: NBN was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NBN were set to 9590180; 12447395; 11325820; 16415040 Phenotypes for gene: NBN were set to Nijmegen breakage syndrome (NBS1); Nijmegen breakage syndrome 251260; Aplastic anemia 609135; Microcephaly, dysmorphic facies, lymphomas, solid tumors, increased radiosensitivity, chromosomal instability; Combined immunodeficiencies with associated or syndromic features |
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| COVID-19 research v0.36 | MYSM1 |
Ellen McDonagh gene: MYSM1 was added gene: MYSM1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: MYSM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYSM1 were set to 26220525; 28115216; 26474655; 28446309; 22184403; 24288411 Phenotypes for gene: MYSM1 were set to Bone marrow failure; immunodeficiency; Short stature, recurrent infections, congenital bone marrow failure, myelodysplasia, immunodeficiency affecting B-cells and granulocytes, skeletal anomalies, cataracts, developmental delay.; mid-face hypoplasia; MYSM1 deficiency; neurodevelopmental delay; Combined immunodeficiencies with associated or syndromic features |
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| COVID-19 research v0.36 | MYO5B |
Ellen McDonagh gene: MYO5B was added gene: MYO5B was added to Viral susceptibility. Sources: Expert Review Green,North West GLH,NHS GMS,GOSH PID v.8.0,London North GLH Mode of inheritance for gene: MYO5B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYO5B were set to 19006234; 18724368 Phenotypes for gene: MYO5B were set to Microvillus inclusion disease 251850 |
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| COVID-19 research v0.36 | MYD88 |
Ellen McDonagh gene: MYD88 was added gene: MYD88 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,A- or hypo-gammaglobulinaemia v1.25,IUIS Classification February 2018 Mode of inheritance for gene: MYD88 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYD88 were set to 18669862; 23215570 Phenotypes for gene: MYD88 were set to recurrent pyogenic bacterial infection; Defects of TLR/NFkappa-B signalling; Defects in Intrinsic and Innate Immunity; Bacterial infections (pyogens); Pyogenic bacterial infections, recurrent, due to MYD88 deficiency 612260 |
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| COVID-19 research v0.36 | MVK |
Ellen McDonagh gene: MVK was added gene: MVK was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MVK were set to 10369261; 16435210 Phenotypes for gene: MVK were set to Hyper-IgD syndrome 260920; Autoinflammatory Disorders; Hyper IgD syndrome (MVK); Mevalonic aciduria 610377; Periodic fever and leukocytosis with high IgD levels |
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| COVID-19 research v0.36 | MTHFD1 |
Ellen McDonagh gene: MTHFD1 was added gene: MTHFD1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: MTHFD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTHFD1 were set to 25633902; 27707659 Phenotypes for gene: MTHFD1 were set to Recurrent bacterial infection, Pneumocystis jirovecii, megaloblastic anemia, failure to thrive, neutropenia, seizures, intellectual disability, folate-responsive; Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 617780; Combined immunodeficiencies with associated or syndromic features; Defects of Vitamin B12 and Folate metabolism |
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| COVID-19 research v0.36 | MOGS |
Ellen McDonagh gene: MOGS was added gene: MOGS was added to Viral susceptibility. Sources: Expert Review Green,Victorian Clinical Genetics Services,North West GLH,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: MOGS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MOGS were set to 24716661; 29235540; 10788335 Phenotypes for gene: MOGS were set to Bacterial and viral infections, severe neurologic disease, also known as congenital disorder of glycosylation type IIb (CDG-IIb); Congenital disorder of glycosylation, type IIb 606056; Predominantly Antibody Deficiencies |
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| COVID-19 research v0.36 | MCM4 |
Ellen McDonagh gene: MCM4 was added gene: MCM4 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: MCM4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCM4 were set to 22354167; 22499342; 22354170; 16532402 Phenotypes for gene: MCM4 were set to Combined immunodeficiencies with associated or syndromic features; Predisposition to several viral infection; Immunodeficiency 54, 609981; MCM4 deficiency; NK cells: low number and function. Viral infections (EBV, HSV, VZV), short stature, B cell lymphoma, adrenal failure; Natural killer cell and glucocorticoid deficiency with DNA repair defect |
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| COVID-19 research v0.36 | MAP3K14 |
Ellen McDonagh gene: MAP3K14 was added gene: MAP3K14 was added to Viral susceptibility. Sources: Expert Review Green,Victorian Clinical Genetics Services,North West GLH,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: MAP3K14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAP3K14 were set to 29230214; 25406581; 29259025 Phenotypes for gene: MAP3K14 were set to Low NK number and function, recurrent bacterial, viral and Cryptosporidium infections; Recessive Atypical Combined Immunodeficiency; Primary Immunodeficiency with Multifaceted Aberrant Lymphoid Immunity; Immunodeficiencies affecting cellular and humoral immunity |
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| COVID-19 research v0.36 | MALT1 |
Ellen McDonagh gene: MALT1 was added gene: MALT1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: MALT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MALT1 were set to 25627829; 24332264; 23727036 Phenotypes for gene: MALT1 were set to Bacterial, fungal and viral infections; Immunodeficiency 12 615468; Immunodeficiencies affecting cellular and humoral immunity; Combined immunodeficiency |
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| COVID-19 research v0.36 | LYST |
Ellen McDonagh gene: LYST was added gene: LYST was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LYST were set to 9215679; 9215680; 10482950; 8896560 Phenotypes for gene: LYST were set to Chediak-Higashi syndrome 214500; Chediak Higashi syndrome; Partial albinism, recurrent infections, fever, HSM, HLH, giant lysosomes, neutropenia, cytopenias, bleeding tendency, progressive neurological dysfunction; Diseases of Immune Dysregulation |
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| COVID-19 research v0.36 | LRBA |
Ellen McDonagh gene: LRBA was added gene: LRBA was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRBA were set to 25468195; 22608502; 22721650 Phenotypes for gene: LRBA were set to Unclassified antibody deficiency; Recurrent infections, inflammatory bowel disease, autoimmunity, EBV infections; Diseases of Immune Dysregulation; Immunodeficiency, common variable, 8, with autoimmunity, 614700 |
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| COVID-19 research v0.36 | LPIN2 |
Ellen McDonagh gene: LPIN2 was added gene: LPIN2 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: LPIN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LPIN2 were set to 17330256; 29387759; 27860302; 15994876 Phenotypes for gene: LPIN2 were set to Other autoinflammatory diseases with known genetic defect; Chronic recurrent multifocal osteomyelitis, transfusion-dependent anemia, cutaneous inflammatory disorders; Autoinflammatory Disorders; Majeed syndrome 609628 |
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| COVID-19 research v0.36 | LIG4 |
Ellen McDonagh gene: LIG4 was added gene: LIG4 was added to Viral susceptibility. Sources: Expert Review Green,Combined B and T cell defect v1.12,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,SCID v1.6,IUIS Classification February 2018 Mode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIG4 were set to Combined immunodeficiency; LIG4 syndrome; DNA ligase IV deficiency; Nl NK, radiation sensitive, microcephaly; Immunodeficiencies affecting cellular and humoral immunity; T-B+ SCID; Severe combined immunodeficiency with sensitivity to ionizing radiation, 602450; Severe combined immunodeficiency (SCID); T-B- SCID; LIG4 syndrome, 606593{Multiple myeloma, resistance to}, 254500; Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation |
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| COVID-19 research v0.36 | LCK |
Ellen McDonagh gene: LCK was added gene: LCK was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: LCK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LCK were set to 11351273; 9664084; 22985903 Phenotypes for gene: LCK were set to Severe combined immunodeficiency due to LCK deficiency; Recurrent infections, immune dysregulation, autoimmunity; Combined immunodeficiency; Immunodeficiency 22, 615758; Immunodeficiencies affecting cellular and humoral immunity; LCK deficiency |
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| COVID-19 research v0.36 | LAT |
Ellen McDonagh gene: LAT was added gene: LAT was added to Viral susceptibility. Sources: Expert Review Green,Combined B and T cell defect v1.12,North West GLH,NHS GMS,London North GLH,A- or hypo-gammaglobulinaemia v1.25,SCID v1.6,IUIS Classification February 2018 Mode of inheritance for gene: LAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAT were set to 27522155; 27242165 Phenotypes for gene: LAT were set to Immunodeficiencies affecting cellular and humoral immunity; Immunodeficiency 52, 617514; Adenopathy, splenomegaly, recurrent infections, autoimmunity |
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| COVID-19 research v0.36 | LAMTOR2 |
Ellen McDonagh gene: LAMTOR2 was added gene: LAMTOR2 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: LAMTOR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMTOR2 were set to 22427693; 17195838; 24092934; 28593997 Phenotypes for gene: LAMTOR2 were set to Neutropenia, Hypogammaglobulinemia CD8 cytotoxicity, partial albinism, growth failure; Congenital neutropenia; Congenital defects of phagocyte number or function; Primary immunodeficiency syndrome due to p14 deficiency; Immunodeficiency due to defect in MAPBP-interacting protein, 610798 |
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| COVID-19 research v0.36 | JAK3 |
Ellen McDonagh gene: JAK3 was added gene: JAK3 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,SCID v1.6,IUIS Classification February 2018 Mode of inheritance for gene: JAK3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: JAK3 were set to SCID, autosomal recessive, T-negative/B-positive type; Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative; Severe Combined Immune Deficiency; Atypical Severe Combined Immunodeficiency (Atypical SCID); Immunodeficiencies affecting cellular and humoral immunity; JAK3 deficiency; T-B+ SCID; Omenn syndrome; Severe combined immunodeficiency (SCID); Low NK |
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| COVID-19 research v0.36 | JAGN1 |
Ellen McDonagh gene: JAGN1 was added gene: JAGN1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: JAGN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: JAGN1 were set to 25129144 Phenotypes for gene: JAGN1 were set to Congenital neutropenia; Myeloid maturation arrest, osteopenia; Congenital defects of phagocyte number or function; Neutropenia, severe congenital; Neutropenia, severe congenital, 6, autosomal recessive,616022; severe congenital neutropenia |
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| COVID-19 research v0.36 | ITK |
Ellen McDonagh gene: ITK was added gene: ITK was added to Viral susceptibility. Sources: Expert Review Green,Combined B and T cell defect v1.12,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: ITK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITK were set to 21109689; 19425169; 22289921 Phenotypes for gene: ITK were set to EBV associated B cell lymphoproliferation, lymphoma, Nl or low IgG; Combined immunodeficiency; Diseases of Immune Dysregulation; ITK deficiency (HLH phenotype); EBV viraemia, HLH; Lymphoproliferative syndrome 1 |
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| COVID-19 research v0.36 | ITGB2 |
Ellen McDonagh gene: ITGB2 was added gene: ITGB2 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: ITGB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITGB2 were set to 1346613; 1968911; 1694220; 7472832 Phenotypes for gene: ITGB2 were set to Delayed cord separation, skin ulcers, periodontitis, leukocytosis; Leukocyte adhesion deficiency type I; Congenital defects of phagocyte number or function; LAD; Leukocyte adhesion deficiency, 116920 |
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| COVID-19 research v0.36 | ITCH |
Ellen McDonagh gene: ITCH was added gene: ITCH was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: ITCH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITCH were set to 26854353; 27322655; 20962770; 19592251; 20170897 Phenotypes for gene: ITCH were set to Early-onset chronic lung disease (interstitial pneumonitis), autoimmunity (thyroiditis, type I diabetes, chronic diarrhea/enteropathy, and hepatitis), failure to thrive, developmental delay, dysmorphic facial features; Diseases of Immune Dysregulation; Autoimmune disease, multisystem, with facial dysmorphism, 613385; Syndromic multisystem autoimmune disease due to Itch deficiency; Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) |
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| COVID-19 research v0.36 | ISG15 |
Ellen McDonagh gene: ISG15 was added gene: ISG15 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: ISG15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISG15 were set to 22859821; 23579383; 25307056 Phenotypes for gene: ISG15 were set to Immunodeficiency 38, 616126; idiopathic basal ganglia calcification; Defects with susceptibility to mycobacterial infection (MSMD); Susceptibility to mycobacteria, brain calcifications; Defects in Intrinsic and Innate Immunity |
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| COVID-19 research v0.36 | IRAK4 |
Ellen McDonagh gene: IRAK4 was added gene: IRAK4 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: IRAK4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IRAK4 were set to 17878374; 17114497; 12637671; 16950813 Phenotypes for gene: IRAK4 were set to Defects with susceptibility to mycobacterial infection (MSMD); Defects of TLR/NFkappa-B signalling; Invasive pneumococcal disease, recurrent isolated, 1, 6107; IRAK4 deficiency, 610799; Defects in Intrinsic and Innate Immunity; Bacterial infections (pyogens) |
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| COVID-19 research v0.36 | INO80 |
Ellen McDonagh gene: INO80 was added gene: INO80 was added to Viral susceptibility. Sources: Expert Review Green,Victorian Clinical Genetics Services,North West GLH,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: INO80 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INO80 were set to 25883595; 25312759 Phenotypes for gene: INO80 were set to severe bacterial infections; Severe bacterial infections; Predominantly Antibody Deficiencies; INO80 deficiency, HIGM |
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| COVID-19 research v0.36 | IL7R |
Ellen McDonagh gene: IL7R was added gene: IL7R was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,SCID v1.6,IUIS Classification February 2018 Mode of inheritance for gene: IL7R was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IL7R were set to Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive; Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type; Nl NK; Severe Combined Immune Deficiency; Atypical Severe Combined Immunodeficiency (Atypical SCID); Immunodeficiencies affecting cellular and humoral immunity; T-B+ SCID; Omenn syndrome; Severe combined immunodeficiency (SCID); IL7Ra deficiency |
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| COVID-19 research v0.36 | IL36RN |
Ellen McDonagh gene: IL36RN was added gene: IL36RN was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: IL36RN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL36RN were set to 23303454; 22903787; 23698098 Phenotypes for gene: IL36RN were set to Other autoinflammatory diseases with known genetic defect; Psoriasis 14, generalized pustular 614204; Autoinflammatory Disorders; Pustular psoriasis |
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| COVID-19 research v0.36 | IL2RA |
Ellen McDonagh gene: IL2RA was added gene: IL2RA was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: IL2RA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL2RA were set to 23416241; 9096364; 17196245; 24116927 Phenotypes for gene: IL2RA were set to Combined immunodeficiency; Immunodeficiency 41 with lymphoproliferation and autoimmunity, 606367; Interleukin 2 receptor alpha deficiency (CD25) (IPEX phenotype); Diseases of Immune Dysregulation; Interleukin-2 receptor, alpha chain, deficiency of; Omenn syndrome; Lymphoproliferation, autoimmunity, impaired T cell proliferation |
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| COVID-19 research v0.36 | IL21R |
Ellen McDonagh gene: IL21R was added gene: IL21R was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: IL21R was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL21R were set to 23440042; 12700598 Phenotypes for gene: IL21R were set to Combined immunodeficiency; Atypical Severe Combined Immunodeficiency (Atypical SCID); Immunodeficiency 56, 615207; Immunodeficiencies affecting cellular and humoral immunity; Omenn syndrome; Immunodeficiency, primary, autosomal recessive, IL21R-related; IL-21R deficiency; Severe combined immunodeficiency (SCID); Recurrent infections, Pneumocystis jiroveci, Cryptosporidium infections and liver disease |
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| COVID-19 research v0.36 | IL1RN |
Ellen McDonagh gene: IL1RN was added gene: IL1RN was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: IL1RN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL1RN were set to 19494219; 19494218 Phenotypes for gene: IL1RN were set to Other autoinflammatory diseases with known genetic defect; DIRA; Interleukin 1 receptor antagonist deficiency 612852; Autoinflammatory Disorders; sterile multifocal osteomyelitis, periostitis, and pustulosis; Neonatal onset of sterile multifocal osteomyelitis, periostitis and pustulosis. |
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| COVID-19 research v0.36 | IL17RC |
Ellen McDonagh gene: IL17RC was added gene: IL17RC was added to Viral susceptibility. Sources: Expert Review Green,Victorian Clinical Genetics Services,North West GLH,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: IL17RC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL17RC were set to 29076381; 25918342 Phenotypes for gene: IL17RC were set to Candidiasis, familial, 9 616445; Chronic Mucocutaneous Candidiasis; CMC; Defects in Intrinsic and Innate Immunity |
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| COVID-19 research v0.36 | IL17RA |
Ellen McDonagh gene: IL17RA was added gene: IL17RA was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: IL17RA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL17RA were set to 27930337; 29076381; 21350122 Phenotypes for gene: IL17RA were set to Candidiasis, familial, 5; Chronic mucocutaneous candidiasis (CMC); Immunodeficiency 51, 613953; CMC, folliculitis; Defects in Intrinsic and Innate Immunity |
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| COVID-19 research v0.36 | IL12RB1 |
Ellen McDonagh gene: IL12RB1 was added gene: IL12RB1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: IL12RB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL12RB1 were set to 11424023; 15736007; 9603733; 21487897; 15178580; 12594833 Phenotypes for gene: IL12RB1 were set to Susceptibility to mycobacteria and Salmonella; Immunodeficiency 30, 614891; Defects with susceptibility to mycobacterial infection (MSMD); Defects in Intrinsic and Innate Immunity |
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| COVID-19 research v0.36 | IL12B |
Ellen McDonagh gene: IL12B was added gene: IL12B was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: IL12B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL12B were set to 11753820; 24127073; 9854038; 15322986 Phenotypes for gene: IL12B were set to Susceptibility to mycobacteria and Salmonella; Immunodeficiency 29, mycobacteriosis, 614890; Defects with susceptibility to mycobacterial infection (MSMD); Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency; Defects in Intrinsic and Innate Immunity |
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| COVID-19 research v0.36 | IL10RB |
Ellen McDonagh gene: IL10RB was added gene: IL10RB was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: IL10RB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL10RB were set to 21519361; 19890111; 27350736; 27302973; 28785144 Phenotypes for gene: IL10RB were set to Inflammatory bowel disease 25, early onset, autosomal recessive,612567; Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome; Diseases of Immune Dysregulation; IBD, folliculitis, recurrent respiratory diseases, arthritis, lymphoma |
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| COVID-19 research v0.36 | IL10RA |
Ellen McDonagh gene: IL10RA was added gene: IL10RA was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: IL10RA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL10RA were set to 22476154; 21519361; 29059189; 28864178; 19890111; 29788474; 29248579; 29140941 Phenotypes for gene: IL10RA were set to IBD, Folliculitis, recurrent respiratory diseases, arthritis, lymphoma; Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome; Diseases of Immune Dysregulation; Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 |
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| COVID-19 research v0.36 | IL10 |
Ellen McDonagh gene: IL10 was added gene: IL10 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: IL10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL10 were set to 19890111; 20951137 Phenotypes for gene: IL10 were set to Early-onset inflammatory bowel disease; Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome; Inflammatory bowel disease (IBD) Folliculitis, recurrent respiratory diseases, arthritis,; Diseases of Immune Dysregulation |
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| COVID-19 research v0.36 | IKBKB |
Ellen McDonagh gene: IKBKB was added gene: IKBKB was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: IKBKB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IKBKB were set to 25216719; 24369075; 30337470 Phenotypes for gene: IKBKB were set to Immunodeficiency 15, 615592; Immunodeficiencies affecting cellular and humoral immunity; Combined immunodeficiency; Recurrent bacterial, viral, fungal infections, opportunistic infections |
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| COVID-19 research v0.36 | IGLL1 |
Ellen McDonagh gene: IGLL1 was added gene: IGLL1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,A- or hypo-gammaglobulinaemia v1.25,IUIS Classification February 2018 Mode of inheritance for gene: IGLL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IGLL1 were set to 27576013; 9419212; 25502423 Phenotypes for gene: IGLL1 were set to Agammaglobulinemia; Severe bacterial infections, normal numbers of pro-B cells; Agammaglobulinemia 2, 613500; Agammaglobulinemia 2; Predominantly Antibody Deficiencies |
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| COVID-19 research v0.36 | IGHM |
Ellen McDonagh gene: IGHM was added gene: IGHM was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,GRID V2.0,NHS GMS,London North GLH,A- or hypo-gammaglobulinaemia v1.25,IUIS Classification February 2018 Mode of inheritance for gene: IGHM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IGHM were set to 8890099; 12370281 Phenotypes for gene: IGHM were set to Agammaglobulinemia 1; Agammaglobulinemia; Severe bacterial infections, normal numbers of pro-B cells; Predominantly Antibody Deficiencies; Agammaglobulinemia 1, 601495 |
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| COVID-19 research v0.36 | ICOS |
Ellen McDonagh gene: ICOS was added gene: ICOS was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,A- or hypo-gammaglobulinaemia v1.25,IUIS Classification February 2018 Mode of inheritance for gene: ICOS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ICOS were set to 15507387; 12577056; 29867948; 29226302; 24795713; 26399252; 25678089; 19380800; 28861081; 10413651; 29226301 Phenotypes for gene: ICOS were set to combined immunodeficiency; Isolated IgG subclass deficiency; gammaglobulinaemia; Immunodeficiency, common variable, 1, 607594; Immunodeficiencies affecting cellular and humoral immunity; Common variable immunodeficiency disorders (CVID); hypogammaglobulinaemia; Immunodeficiency, common variable, 1; Recurrent infections, autoimmunity, gastroenteritis, granulomas |
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| COVID-19 research v0.36 | HTRA2 |
Ellen McDonagh gene: HTRA2 was added gene: HTRA2 was added to Viral susceptibility. Sources: Expert Review Green,North West GLH,Congenital neutropaenia v1.22,NHS GMS,London North GLH Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HTRA2 were set to 27696117; 27208207 Phenotypes for gene: HTRA2 were set to 3-methylglutaconic aciduria, type VIII, 617248; early onset neurological syndrome; neutropenia |
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| COVID-19 research v0.36 | HPS6 |
Ellen McDonagh gene: HPS6 was added gene: HPS6 was added to Viral susceptibility. Sources: Expert Review Green,North West GLH,NHS GMS,GOSH PID v.8.0,London North GLH Mode of inheritance for gene: HPS6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HPS6 were set to Hermansky-Pudlak syndrome 6, 614075 |
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| COVID-19 research v0.36 | HPS4 |
Ellen McDonagh gene: HPS4 was added gene: HPS4 was added to Viral susceptibility. Sources: Expert Review Green,North West GLH,NHS GMS,GOSH PID v.8.0,London North GLH Mode of inheritance for gene: HPS4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HPS4 were set to Hermansky-Pudlak syndrome 4, 614073 |
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| COVID-19 research v0.36 | HPS1 |
Ellen McDonagh gene: HPS1 was added gene: HPS1 was added to Viral susceptibility. Sources: Expert Review Green,North West GLH,NHS GMS,GOSH PID v.8.0,London North GLH Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPS1 were set to 9562579 Phenotypes for gene: HPS1 were set to inflammatory bowel disease; oculocutaneous albinism; Hermansky-Pudlak syndrome 1; bleeding; pulmonary fibrosis |
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| COVID-19 research v0.36 | HELLS |
Ellen McDonagh gene: HELLS was added gene: HELLS was added to Viral susceptibility. Sources: Expert Review Green,North West GLH,NHS GMS,London North GLH,Literature,IUIS Classification February 2018 Mode of inheritance for gene: HELLS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HELLS were set to 28128455; 27328760; 17726103; 29339483; 11711429; 26216346; 14517253; 16395332 Phenotypes for gene: HELLS were set to ICF; Immunodeficiency-centromeric instability-facial anomalies syndrome 4, 616911; ICF4; Combined immunodeficiencies with associated or syndromic features; Facial dysmorphic features, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16; Immunodeficiency-centromeric instability-facial anomalies syndrome |
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| COVID-19 research v0.36 | HAX1 |
Ellen McDonagh gene: HAX1 was added gene: HAX1 was added to Viral susceptibility. Sources: Expert Review Green,Agranulocytosis v1.3,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,Congenital neutropaenia v1.22,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: HAX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HAX1 were set to Congenital neutropenia; Cognitive and neurological defects in patients with defects in both HAX1 isoforms, susceptibility to MDS/leukemia; Neutropenia, severe congenital 3, autosomal recessive, 610738; Congenital defects of phagocyte number or function; Severe congenital neutropenia; Neutropenia, severe congenital 3 |
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| COVID-19 research v0.36 | GINS1 |
Ellen McDonagh gene: GINS1 was added gene: GINS1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: GINS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GINS1 were set to 28414293 Phenotypes for gene: GINS1 were set to Immunodeficiency 55, 617827; NK cell deficiency; chronic neutropenia; Neutropenia, IUGR, NK cells very low; GINS1 deficiency; Combined immunodeficiencies with associated or syndromic features; intrauterine growth retardation |
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| COVID-19 research v0.36 | G6PC3 |
Ellen McDonagh gene: G6PC3 was added gene: G6PC3 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,Congenital neutropaenia v1.22,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: G6PC3 were set to 19118303; 20616219 Phenotypes for gene: G6PC3 were set to Structural heart defects, urogenital abnormalities, inner ear deafness, and venous angiectasias of trunks and limbs; Congenital neutropenia; Dursun syndrome, 612541; Severe Congenital Neutropenia; Neutropenia, severe congenital 4, autosomal recessive, 612541; Congenital defects of phagocyte number or function; Neutropenia, severe congenital 4 |
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| COVID-19 research v0.36 | FOXN1 |
Ellen McDonagh gene: FOXN1 was added gene: FOXN1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,SCID v1.6,IUIS Classification February 2018 Mode of inheritance for gene: FOXN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FOXN1 were set to 28636882; 15180707; 21507891; 11159512; 31447097; 10206641; 28077132; 29593714 Phenotypes for gene: FOXN1 were set to Nude severe combined immunodeficiency; T-cell immunodeficiency, congenital alopecia, and nail dystrophy; T-B+ SCID; Severe infections, abnormal thymic epithelium, immunodeficiency, congenital alopecia, nail dystrophy, neural tube defect; T-B+ SCID, congenital alopecia, nail dystrophy, 601705; Combined immunodeficiencies with associated or syndromic features |
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| COVID-19 research v0.36 | FERMT3 |
Ellen McDonagh gene: FERMT3 was added gene: FERMT3 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: FERMT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FERMT3 were set to 26729028; 27749372; 12511588; 17185466; 19234463; 21441448; 20357244 Phenotypes for gene: FERMT3 were set to LAD type 1 plus bleeding tendency; LAD; Congenital defects of phagocyte number or function; Leukocyte adhesion deficiency, type III, 612840 |
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| COVID-19 research v0.36 | FAT4 |
Ellen McDonagh gene: FAT4 was added gene: FAT4 was added to Viral susceptibility. Sources: Expert Review Green,Victorian Clinical Genetics Services,North West GLH,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: FAT4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAT4 were set to 24913602; 25616299; 29681106 Phenotypes for gene: FAT4 were set to Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features; Combined immunodeficiencies with associated or syndromic features; Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 |
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| COVID-19 research v0.36 | FASLG |
Ellen McDonagh gene: FASLG was added gene: FASLG was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: FASLG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FASLG were set to 17605793; 8787672; 20301287; 27848183 Phenotypes for gene: FASLG were set to Autoimmune lymphoproliferative syndrome, type IB, 601859; Diseases of Immune Dysregulation; Autoimmune lymphoproliferative syndrome, type IB (ALPS-FASG); Splenomegaly, adenopathies, autoimmune cytopenias, SLE, soluble FasL is not elevated; Autoimmune lymphoproliferative syndrome (ALPS) |
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| COVID-19 research v0.36 | FADD |
Ellen McDonagh gene: FADD was added gene: FADD was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: FADD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FADD were set to 21109225; 17656375; 25794656 Phenotypes for gene: FADD were set to para-infectious encephalopathy and hepatopathy; Functional hyposplenism, bacterial and viral infections, recurrent episodes of encephalopathy and liver dysfunction; Diseases of Immune Dysregulation; invasive pneumococcal disease; cardiovascular malformations; Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations, 613759; functional hyposplenism; ALPS-like disease |
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| COVID-19 research v0.36 | EXTL3 |
Ellen McDonagh gene: EXTL3 was added gene: EXTL3 was added to Viral susceptibility. Sources: Expert Review Green,North West GLH,NHS GMS,London North GLH,A- or hypo-gammaglobulinaemia v1.25,IUIS Classification February 2018 Mode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXTL3 were set to 28132690; 28148688 Phenotypes for gene: EXTL3 were set to Combined immunodeficiencies with associated or syndromic features; EXTL3 deficiency; Platyspondyly, kyphosis, variable skeletal dysplasias, developmental delay; Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425 |
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| COVID-19 research v0.36 | ERCC6L2 |
Ellen McDonagh gene: ERCC6L2 was added gene: ERCC6L2 was added to Viral susceptibility. Sources: Expert Review Green,North West GLH,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: ERCC6L2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC6L2 were set to 27185855; 24507776 Phenotypes for gene: ERCC6L2 were set to Bone marrow failure syndrome 2, 615715; Combined immunodeficiencies with associated or syndromic features; Facial dysmorphism, microcephaly, bone marrow failure |
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| COVID-19 research v0.36 | EPG5 |
Ellen McDonagh gene: EPG5 was added gene: EPG5 was added to Viral susceptibility. Sources: Expert Review Green,Combined B and T cell defect v1.12,Victorian Clinical Genetics Services,North West GLH,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPG5 were set to 23222957; 23838600; 25331754; 26395118; 23674064; 26917586; 28624465 Phenotypes for gene: EPG5 were set to Vici syndrome; Vici syndrome due to EPG5 deficiency; Vici syndrome, 242840; Agenesis of the corpus callosum, cataracts, cardiomyopathy, skin hypopigmentation, intellectual disability, microcephaly, recurrent infections, chronic mucocutaneous candidiasis; Immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum; syndromic phenotype (immunodeficiency variable); Combined immunodeficiencies with associated or syndromic features |
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| COVID-19 research v0.36 | DOCK8 |
Ellen McDonagh gene: DOCK8 was added gene: DOCK8 was added to Viral susceptibility. Sources: Expert Review Green,Combined B and T cell defect v1.12,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: DOCK8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOCK8 were set to 25724123; 19776401; 20004785; 25627830 Phenotypes for gene: DOCK8 were set to Combined immunodeficiency; Hyper-IgE recurrent infection syndrome, autosomal recessive; Hyper IgE syndrome (HIES); Immunodeficiencies affecting cellular and humoral immunity; Low NK cells with poor function, eosinophilia, recurrent infections, cutaneous viral, fungal and staphylococcal infections, severe atopy, cancer diathesis; Hyper-IgE recurrent infection syndrome; impaired T cell function, Atopy, cutaneous viral infections |
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| COVID-19 research v0.36 | DOCK2 |
Ellen McDonagh gene: DOCK2 was added gene: DOCK2 was added to Viral susceptibility. Sources: Expert Review Green,Victorian Clinical Genetics Services,North West GLH,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: DOCK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOCK2 were set to 28694805; 26083206; 29503648 Phenotypes for gene: DOCK2 were set to Dock 2 deficiency, Immunodeficiency 40; Immunodeficiencies affecting cellular and humoral immunity; Immunodeficiency 40, 616433; Nl NK cells, but defective function. Poor interferon responses in hematopoietic and non-hematopoietic cells |
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| COVID-19 research v0.36 | DNMT3B |
Ellen McDonagh gene: DNMT3B was added gene: DNMT3B was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,A- or hypo-gammaglobulinaemia v1.25,IUIS Classification February 2018 Mode of inheritance for gene: DNMT3B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNMT3B were set to 10647011 Phenotypes for gene: DNMT3B were set to Facial dysmorphic features, developmental delay, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16; Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860; Immunodeficiency centromeric instability facial anomalies syndrome (ICF); Immunodeficiency-centromeric instability-facial anomalies syndrome 1; Combined immunodeficiencies with associated or syndromic features |
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| COVID-19 research v0.36 | DNASE2 |
Ellen McDonagh gene: DNASE2 was added gene: DNASE2 was added to Viral susceptibility. Sources: Expert Review Green,North West GLH,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: DNASE2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNASE2 were set to 29259162 Phenotypes for gene: DNASE2 were set to liver fibrosis; multisystem autoinflammatory syndrome; SLE; severe neonatal anemia; Autoinflammatory Disorders; deforming arthropathy; Glomerulonephritis, arthropathy, vasculitis; membranoproliferative glomerulonephritis |
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| COVID-19 research v0.36 | DNAJC21 |
Ellen McDonagh gene: DNAJC21 was added gene: DNAJC21 was added to Viral susceptibility. Sources: Expert Review Green,North West GLH,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: DNAJC21 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJC21 were set to 27346687; 29700810; 28062395 Phenotypes for gene: DNAJC21 were set to Bone marrow failure syndrome 3, 617052; Metaphyseal changes, short stature, developmental delay, pancreatic dysfunction, bone marrow failure; Shwachman-Diamond syndrome-like; Congenital defects of phagocyte number or function |
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| COVID-19 research v0.36 | DCLRE1C |
Ellen McDonagh gene: DCLRE1C was added gene: DCLRE1C was added to Viral susceptibility. Sources: Expert Review Green,Combined B and T cell defect v1.12,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,SCID v1.6,IUIS Classification February 2018 Mode of inheritance for gene: DCLRE1C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DCLRE1C were set to Severe combined immunodeficiency, Athabascan type, 602450; Severe combined immunodeficiency, Athabascan type; DCLRE1C (Artemis) deficiency; Combined immunodeficiency; Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation; Atypical Severe Combined Immunodeficiency (Atypical SCID); Immunodeficiencies affecting cellular and humoral immunity; Nl NK, radiation sensitive; T-B+ SCID; Omenn syndrome; Severe combined immunodeficiency (SCID); T-B- SCID |
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| COVID-19 research v0.36 | DCLRE1B |
Ellen McDonagh gene: DCLRE1B was added gene: DCLRE1B was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: DCLRE1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DCLRE1B were set to 20479256 Phenotypes for gene: DCLRE1B were set to Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients; Combined immunodeficiencies with associated or syndromic features; Hoyeraal-Hreidarsson syndrome |
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| COVID-19 research v0.36 | CYBA |
Ellen McDonagh gene: CYBA was added gene: CYBA was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CYBA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYBA were set to 10759707; 12073015; 2243141; 1415254; 18422995 Phenotypes for gene: CYBA were set to Chronic granulomatous disease (CGD); Congenital defects of phagocyte number or function; Infections, autoinflammatory phenotype; Chronic granulomatous disease, autosomal, due to deficiency of CYBA,233690 |
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| COVID-19 research v0.36 | CTSC |
Ellen McDonagh gene: CTSC was added gene: CTSC was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTSC were set to 10593994; 10662807; 11106356 Phenotypes for gene: CTSC were set to Severe periodontitis; Periodontitis, palmoplantar hyperkeratosis in some patients; Congenital defects of phagocyte number or function; Haim-Munk syndrome, 245010; palmoplantar keratoderma; Papillon-Lefevre syndrome, 245000 |
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| COVID-19 research v0.36 | CTPS1 |
Ellen McDonagh gene: CTPS1 was added gene: CTPS1 was added to Viral susceptibility. Sources: Expert Review Green,Victorian Clinical Genetics Services,North West GLH,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CTPS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTPS1 were set to 9536098; 24870241; 27638562; 26424649; 17576681 Phenotypes for gene: CTPS1 were set to Recurrent/chronic bacterial and viral infections (EBV, VZV), EBV lymphoproliferation, B-cell non-Hodgkin lymphoma; Severe combined immunodeficiency due to CTPS1 deficiency; Immunodeficiency 24, 615897; Patients develop Epstein-Barr Virus (EBV) driven Hemophagocytic Lymphohistiocytosis (HLH ); Diseases of Immune Dysregulation |
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| COVID-19 research v0.36 | CSF3R |
Ellen McDonagh gene: CSF3R was added gene: CSF3R was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,Congenital neutropaenia v1.22,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CSF3R was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSF3R were set to 24753537; 29070147; 19620628; 26324699 Phenotypes for gene: CSF3R were set to Congenital neutropenia; Congenital defects of phagocyte number or function; Neutropenia, severe congenital 7; N/A; Neutropenia, severe congenital, 7, autosomal recessive, 617014 |
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| COVID-19 research v0.36 | CSF2RB |
Ellen McDonagh gene: CSF2RB was added gene: CSF2RB was added to Viral susceptibility. Sources: Expert Review Green,North West GLH,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CSF2RB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSF2RB were set to 21205713; 21075760; 9410898 Phenotypes for gene: CSF2RB were set to Surfactant metabolism dysfunction, pulmonary, 5, 614370; Congenital defects of phagocyte number or function; Alveolar proteinosis |
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| COVID-19 research v0.36 | CSF2RA |
Ellen McDonagh gene: CSF2RA was added gene: CSF2RA was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CSF2RA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSF2RA were set to 1972780; 18955570; 23632888; 18955567 Phenotypes for gene: CSF2RA were set to Congenital pulmonary alveolar proteinosis; Alveolar proteinosis; Congenital defects of phagocyte number or function; Pulmonary alveolar proteinosis; hypersensitivity; Surfactant metabolism dysfunction, pulmonary 4, 300770 |
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| COVID-19 research v0.36 | CORO1A |
Ellen McDonagh gene: CORO1A was added gene: CORO1A was added to Viral susceptibility. Sources: Expert Review Green,Combined B and T cell defect v1.12,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CORO1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CORO1A were set to 23522482; 18836449; 19097825 Phenotypes for gene: CORO1A were set to Combined immunodeficiency; Immunodeficiency 8; hypogammaglobulinaemia, combined immunodeficiency; Coronin-1A deficiency; Atypical Severe Combined Immunodeficiency (Atypical SCID); Detectable thymus, EBV; Immunodeficiencies affecting cellular and humoral immunity; Omenn syndrome; Severe combined immunodeficiency (SCID) |
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| COVID-19 research v0.36 | CLPB |
Ellen McDonagh gene: CLPB was added gene: CLPB was added to Viral susceptibility. Sources: Expert Review Green,Victorian Clinical Genetics Services,North West GLH,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLPB were set to 25650066; 25597510; 27891836; 28687938; 26916670; 25597511 Phenotypes for gene: CLPB were set to Neurocognitive developmental aberrations, microcephaly, hypoglycemia, hypotonia, ataxia, seizures, cataracts, IUGR; Congenital defects of phagocyte number or function; 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271; 3-methylglutaconic aciduria, type VII; 3-methylglutaconic aciduria, type 7; Recurrent or severe infection |
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| COVID-19 research v0.36 | CIITA |
Ellen McDonagh gene: CIITA was added gene: CIITA was added to Viral susceptibility. Sources: Expert Review Green,Combined B and T cell defect v1.12,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CIITA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CIITA were set to 8402893; 11862382; 9099848 Phenotypes for gene: CIITA were set to HLA class II deficiency; Combined immunodeficiency (MHC class II deficiency, bare lymphocyte syndrome); Immunodeficiencies affecting cellular and humoral immunity; Respiratory and gastrointestinal infections, liver/biliary tract disease; Bare lymphocyte syndrome, type II, complementation group A |
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| COVID-19 research v0.36 | CFI |
Ellen McDonagh gene: CFI was added gene: CFI was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,Inherited complement deficiency v0.11,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CFI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CFI were set to 18374984; 24142231; 22710145; 19065647; 8613545; 12562389; 27091480; 3897024; 21316765; 25988862 Phenotypes for gene: CFI were set to {Macular degeneration, age-related, 13, susceptibility to}, 615439; Complement factor I deficiency; Factor I deficiency; {Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923; Infections, disseminated neisserial infections, atypical Hemolytic-uremic syndrome, preeclampsia; Complement Deficiencies; Immunodeficiency with factor I anomaly; C3b inactivator deficiency; Complement factor I deficiency, 610984 |
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| COVID-19 research v0.36 | CFD |
Ellen McDonagh gene: CFD was added gene: CFD was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,Inherited complement deficiency v0.11,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CFD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CFD were set to 29522842; 6568950; 16527897; 11457876 Phenotypes for gene: CFD were set to Complement factor D deficiency, 613912; Neisserial infections; Recurrent Neisseria infections due to factor D deficiency; Complement Deficiencies; Complement factor D deficiency; Factor D deficiency |
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| COVID-19 research v0.36 | CDCA7 |
Ellen McDonagh gene: CDCA7 was added gene: CDCA7 was added to Viral susceptibility. Sources: Expert Review Green,North West GLH,NHS GMS,London North GLH,Literature,IUIS Classification February 2018 Mode of inheritance for gene: CDCA7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDCA7 were set to 28128455; 27328760; 15952214; 29339483; 29659838; 1999836; 26216346 Phenotypes for gene: CDCA7 were set to ICF; recurrent respiratory infections; ICF3; Immunodeficiency-centromeric instability-facial anomalies syndrome 3, 616910; immunodeficiency, centromeric instability, facial anomalies syndrome type 3; hypogammaglobulinaemia; enteropathy; Combined immunodeficiencies with associated or syndromic features; Facial dysmorphic features, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16; Immunodeficiency-centromeric instability-facial anomalies syndrome |
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| COVID-19 research v0.36 | CD79B |
Ellen McDonagh gene: CD79B was added gene: CD79B was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,A- or hypo-gammaglobulinaemia v1.25,IUIS Classification February 2018 Mode of inheritance for gene: CD79B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD79B were set to 17709424; 17675462; 24722855 Phenotypes for gene: CD79B were set to Agammaglobulinemia; Severe bacterial infections, normal numbers of pro-B cells; Agammaglobulinemia 6, 612692; CD79B deficiency, Agammaglobulinemia with autosomal recessive inheritance (ARA); Agammaglobulinemia 6; Predominantly Antibody Deficiencies |
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| COVID-19 research v0.36 | CD79A |
Ellen McDonagh gene: CD79A was added gene: CD79A was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,A- or hypo-gammaglobulinaemia v1.25,IUIS Classification February 2018 Mode of inheritance for gene: CD79A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD79A were set to 19302039; 11920841; 24481606; 10525050; 29335801; 24909997 Phenotypes for gene: CD79A were set to Agammaglobulinemia; Agammaglobulinemia 3, 613501; Severe bacterial infections, normal numbers of pro-B cells; Agammaglobulinemia with autosomal recessive inheritance (ARA); Predominantly Antibody Deficiencies; CD79A deficiency; Agammaglobulinemia 3 |
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| COVID-19 research v0.36 | CD70 |
Ellen McDonagh gene: CD70 was added gene: CD70 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CD70 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD70 were set to 28011864; 28011863; 29434583 Phenotypes for gene: CD70 were set to Combined immunodeficiency; CD70-deficiency; Diseases of Immune Dysregulation; EBV-related malignancy; EBV susceptibility, Hodgkin lymphoma |
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| COVID-19 research v0.36 | CD59 |
Ellen McDonagh gene: CD59 was added gene: CD59 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CD59 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD59 were set to 1382994; 1699124; 23149847; 24382084; 25716358 Phenotypes for gene: CD59 were set to Primary CD59 deficiency; paroxysmal nocturnal haemoglobinuria; CD59 antigen P18-20 deficiency (CD59); Hemolytic anemia, polyneuropathy; Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300; childhood relapsing immune-mediated polyneuropathy; Complement Deficiencies; chronic hemolysis; Membrane Attack Complex Inhibitor (CD59) deficiency |
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| COVID-19 research v0.36 | CD55 |
Ellen McDonagh gene: CD55 was added gene: CD55 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CD55 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD55 were set to 28657829 Phenotypes for gene: CD55 were set to primary intestinal lymphangiectasia; protein-losing enteropathy; Protein losing enteropathy, thrombosis; Decay-accelerating factor for complement deficiency (DAF CD55); Complement Deficiencies; hypogammaglobulinaemia; angiopathic thrombosis |
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| COVID-19 research v0.36 | CD40 |
Ellen McDonagh gene: CD40 was added gene: CD40 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CD40 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD40 were set to 17502893; 20301287; 12584544; 11675497 Phenotypes for gene: CD40 were set to Immunodeficiency with hyper-IgM, type 3; Hyper-IgM syndrome due to CD40 deficiency; non-X-linked hyper IgM syndrome; Immunodeficiencies affecting cellular and humoral immunity; HIGM3; CD40 deficiency; Neutropenia, opportunistic infections, gastrointestinal and biliary tract and liver disease, Cryptosporidium infections; CSR defects and Hyper IgM (HIGM) syndromes |
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| COVID-19 research v0.36 | CD3G |
Ellen McDonagh gene: CD3G was added gene: CD3G was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CD3G was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD3G were set to 1635567; 17277165 Phenotypes for gene: CD3G were set to Combined immunodeficiency; Immunodeficiency 17, CD3 gamma deficient 615607; CD3z deficiency; Immunodeficiencies affecting cellular and humoral immunity; N/A |
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| COVID-19 research v0.36 | CD3E |
Ellen McDonagh gene: CD3E was added gene: CD3E was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,SCID v1.6,IUIS Classification February 2018 Mode of inheritance for gene: CD3E was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CD3E were set to Immunodeficiency due to defect in CD3-epsilon; Severe Combined Immune Deficiency; Atypical Severe Combined Immunodeficiency (Atypical SCID); Nl NK, no g/d T cells; Immunodeficiencies affecting cellular and humoral immunity; T-B+ SCID; Immunodeficiency 18, SCID variant; Severe combined immunodeficiency (SCID); CD3e deficiency |
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| COVID-19 research v0.36 | CD3D |
Ellen McDonagh gene: CD3D was added gene: CD3D was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,SCID v1.6,IUIS Classification February 2018 Mode of inheritance for gene: CD3D was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CD3D were set to CD3d deficiency; Severe Combined Immune Deficiency; Atypical Severe Combined Immunodeficiency (Atypical SCID); Nl NK, no g/d T cells; Immunodeficiency 19; Immunodeficiencies affecting cellular and humoral immunity; T-B+ SCID; Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive; Severe combined immunodeficiency (SCID) |
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| COVID-19 research v0.36 | CD27 |
Ellen McDonagh gene: CD27 was added gene: CD27 was added to Viral susceptibility. Sources: Expert Review Green,Combined B and T cell defect v1.12,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CD27 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD27 were set to 22197273; 25843314; 22801960 Phenotypes for gene: CD27 were set to Lymphoproliferative syndrome 2; Combined immunodeficiency; Diseases of Immune Dysregulation; Features triggered by EBV infection, HLH, aplastic anemia, low iNKT cells, lymphoma; Combined immunodeficiency with EBV-associated lymphoproliferation; CD27 deficiency |
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| COVID-19 research v0.36 | CD19 |
Ellen McDonagh gene: CD19 was added gene: CD19 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,A- or hypo-gammaglobulinaemia v1.25,IUIS Classification February 2018 Mode of inheritance for gene: CD19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD19 were set to 16672701; 21159371; 21330302 Phenotypes for gene: CD19 were set to Immunodeficiency, common variable, 3; Isolated IgG subclass deficiency; Recurrent infections, may have glomerulonephritis; Immunodeficiency, common variable, 3 613493; Common variable immunodeficiency disorders (CVID); Predominantly Antibody Deficiencies; hypogammaglobulinemia |
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| COVID-19 research v0.36 | CCBE1 |
Ellen McDonagh gene: CCBE1 was added gene: CCBE1 was added to Viral susceptibility. Sources: Expert Review Green,Victorian Clinical Genetics Services,North West GLH,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CCBE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCBE1 were set to 24913602; 19911200; 19935664 Phenotypes for gene: CCBE1 were set to Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features; Combined immunodeficiencies with associated or syndromic features; Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 |
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| COVID-19 research v0.36 | CASP8 |
Ellen McDonagh gene: CASP8 was added gene: CASP8 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CASP8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CASP8 were set to 24240292; 16157684; 12353035; 20301287 Phenotypes for gene: CASP8 were set to Caspase-8 deficiency state; Immunodeficiency due to CASP8 deficiency; CEDS; ?Autoimmune lymphoproliferative syndrome, type IIB, 607271; Diseases of Immune Dysregulation; Caspase 8 deficiency; Autoimmune lymphoproliferative syndrome (ALPS); Adenopathies, splenomegaly, bacterial and viral infections, hypogammaglobulinemia |
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| COVID-19 research v0.36 | CARMIL2 |
Ellen McDonagh gene: CARMIL2 was added gene: CARMIL2 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CARMIL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CARMIL2 were set to 27647349; 27896283; 28112205 Phenotypes for gene: CARMIL2 were set to warts, molluscum contagiosum, and T cell dysfunction; Combined immunodeficiency; Recurrent bacterial, fungal and mycobacterial infections, viral warts, molluscum and EBV lymphoproliferative and other malignancy, atopy; Diseases of Immune Dysregulation; EBV+ disseminated smooth muscle tumours |
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| COVID-19 research v0.36 | CARD9 |
Ellen McDonagh gene: CARD9 was added gene: CARD9 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CARD9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CARD9 were set to 19864672; 23335372; 24131138 Phenotypes for gene: CARD9 were set to Predisposition to invasive fungal disease due to CARD9 deficiency; 212050; CARD9 deficiency; Invasive candidiasis infection, deep dermatophytoses, other invasive fungal infections; Candidiasis, familial, 2; Defects in Intrinsic and Innate Immunity |
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| COVID-19 research v0.36 | C9 |
Ellen McDonagh gene: C9 was added gene: C9 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: C9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C9 were set to 9634479; 9570574; 9144525; 10072634 Phenotypes for gene: C9 were set to Mild susceptibility to disseminated neisserial infections; Complement component 9 deficiency; Complement Deficiencies; Susceptibility to invasive bacterial infection, especially meningococcal; C9 deficiency, 613825 |
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| COVID-19 research v0.36 | C8B |
Ellen McDonagh gene: C8B was added gene: C8B was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: C8B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C8B were set to 8098723; 19434484; 9476133; 27183977 Phenotypes for gene: C8B were set to Disseminated neisserial infections; C8 deficiency, type II, 613789; Complement component 8 deficiency; Complement Deficiencies; Susceptibility to invasive bacterial infection, especially meningococcal |
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| COVID-19 research v0.36 | C8A |
Ellen McDonagh gene: C8A was added gene: C8A was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: C8A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C8A were set to 9759902 Phenotypes for gene: C8A were set to Disseminated neisserial infections; Complement component 8 deficiency; C8 deficiency, type I, 613790; Complement Deficiencies; Susceptibility to invasive bacterial infection, especially meningococcal |
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| COVID-19 research v0.36 | C7 |
Ellen McDonagh gene: C7 was added gene: C7 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: C7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C7 were set to 16771861; 15554930; 9844043; 7762578 Phenotypes for gene: C7 were set to Disseminated neisserial infections; Complement component 7 deficiency; Complement Deficiencies; C7 deficiency, 610102; Susceptibility to invasive bacterial infection, especially meningococcal |
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| COVID-19 research v0.36 | C6 |
Ellen McDonagh gene: C6 was added gene: C6 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: C6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C6 were set to 9472666; 8690922; 12653841 Phenotypes for gene: C6 were set to Disseminated neisserial infections; C6 deficiency, 612446; Complement Deficiencies; Susceptibility to invasive bacterial infection, especially meningococcal; Complement component 6 deficiency |
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| COVID-19 research v0.36 | C5 |
Ellen McDonagh gene: C5 was added gene: C5 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: C5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C5 were set to 19375167; 25534848; 7730648 Phenotypes for gene: C5 were set to C5 deficiency, 609536; Disseminated neisserial infections; Complement Deficiencies; Complement component 5 deficiency; Susceptibility to invasive bacterial infection, especially meningococcal |
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| COVID-19 research v0.36 | C4B |
Ellen McDonagh gene: C4B was added gene: C4B was added to Viral susceptibility. Sources: Expert Review Green,Victorian Clinical Genetics Services,North West GLH,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: C4B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C4B were set to 12626442; 2355198; 19062096; 1569346; 2788199 Phenotypes for gene: C4B were set to C4B deficiency, 614379; SLE, infections with encapsulated organisms , partial deficiency is common (either C4A or C4B) and appears to have a modest effect on host defense; Complement Deficiencies; SLE predisposition |
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| COVID-19 research v0.36 | C4A |
Ellen McDonagh gene: C4A was added gene: C4A was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: C4A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C4A were set to 15294999; 2295875; 22482068 Phenotypes for gene: C4A were set to C4a deficiency, 614380; Complement Deficiencies; SLE, infections with encapsulated organisms , partial deficiency is common (either C4A or C4B) and appears to have a modest effect on host defense; Complement component 4 deficiency; SLE predisposition; Immunodeficiency due to a classical component pathway complement deficiency; infections with encapsulated organisms |
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| COVID-19 research v0.36 | C3 |
Ellen McDonagh gene: C3 was added gene: C3 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: C3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C3 were set to 1350678; 1976733; 15781264; 4117597 Phenotypes for gene: C3 were set to Complement Deficiencies; Complement component 3 deficiency; Atypical hemolytic-uremic syndrome, dense deposit disease; Infections, glomerulonephritis, atypical hemolytic-uremic syndrome with GOF mutations; C3 deficiency, 613779 |
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| COVID-19 research v0.36 | C2 |
Ellen McDonagh gene: C2 was added gene: C2 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,Inherited complement deficiency v0.11,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: C2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C2 were set to 1577763; 15643297; 11079100; 8621452; 7901282 Phenotypes for gene: C2 were set to Complement Component C2 Deficiency; Lupus; Complement Deficiencies; SLE, infections with encapsulated organisms, atherosclerosis; C2 deficiency, 217000; Immunodeficiency due to C1, C4, or C2 component complement deficiency |
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| COVID-19 research v0.36 | C1S |
Ellen McDonagh gene: C1S was added gene: C1S was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: C1S was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C1S were set to 27745832; 11390518; 20727163; 9856483 Phenotypes for gene: C1S were set to SLE; pyogenic infections; Complement component 1 deficiency; SLE, infections with encapsulated organisms, Ehlers Danlos phenotype; Complement Deficiencies; C1s deficiency, 613783; C1s deficiency, Lupus |
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| COVID-19 research v0.36 | C1R |
Ellen McDonagh gene: C1R was added gene: C1R was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: C1R was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C1R were set to 28544690; 21784777; 27745832; 29795138; 28711143 Phenotypes for gene: C1R were set to SLE; pyogenic infections; Complement component 1 deficiency; SLE, infections with encapsulated organisms, Ehlers Danlos phenotype; Complement Deficiencies; C1r/C1s deficiency, combined, Lupus; Immunodeficiency due to a classical component pathway complement deficiency |
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| COVID-19 research v0.36 | C1QC |
Ellen McDonagh gene: C1QC was added gene: C1QC was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: C1QC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C1QC were set to 24157463; 8630118; 7900940; 21654842 Phenotypes for gene: C1QC were set to SLE, infections with encapsulated organisms; Complement component 1 deficiency; C1q deficiency, 613652; Complement Deficiencies; Immunodeficiency due to a classical component pathway complement deficiency |
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| COVID-19 research v0.36 | C1QB |
Ellen McDonagh gene: C1QB was added gene: C1QB was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,Inherited complement deficiency v0.11,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: C1QB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C1QB were set to 9476130; 2894352; 24160257; 12133956; 25454803; 23651859; 17513176 Phenotypes for gene: C1QB were set to SLE, infections with encapsulated organisms; SLE; lupus-like disease; Complement component 1 deficiency; Immunodeficiency due to an early component of complement deficiency, 613652; C1q deficiency; susceptibility to invasive bacterial infection; Complement Deficiencies |
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| COVID-19 research v0.36 | C1QA |
Ellen McDonagh gene: C1QA was added gene: C1QA was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: C1QA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C1QA were set to 7594474; 28601358; 25133636; 8840296; 26032012; 21654842 Phenotypes for gene: C1QA were set to SLE, infections with encapsulated organisms; Complement component 1 deficiency; C1q deficiency, 613652; Complement Deficiencies; Immunodeficiency due to a classical component pathway complement deficiency |
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| COVID-19 research v0.36 | BLNK |
Ellen McDonagh gene: BLNK was added gene: BLNK was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,A- or hypo-gammaglobulinaemia v1.25,IUIS Classification February 2018 Mode of inheritance for gene: BLNK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BLNK were set to 19302039; 24582315; 25893637; 10583958 Phenotypes for gene: BLNK were set to Agammaglobulinemia; Agammaglobulinemia 4, 613502; Severe bacterial infections, normal numbers of pro-B cells; Agammaglobulinemia 4; Predominantly Antibody Deficiencies; agammaglobulinaemia with absent B cells |
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| COVID-19 research v0.36 | BLM |
Ellen McDonagh gene: BLM was added gene: BLM was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BLM were set to 17407155; 8231788; 9482582; 9285778; 7585968 Phenotypes for gene: BLM were set to Immunodeficiency; Combined immunodeficiencies with associated or syndromic features; Bloom syndrome, 210900; Short stature, dysmorphic facies, sun-sensitive erythema, marrow failure, leukemia, lymphoma, chromosomal instability |
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| COVID-19 research v0.36 | B2M |
Ellen McDonagh gene: B2M was added gene: B2M was added to Viral susceptibility. Sources: Expert Review Green,Victorian Clinical Genetics Services,North West GLH,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: B2M was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B2M were set to 25702838; 4186801 Phenotypes for gene: B2M were set to Immunodeficiency 43,241600; Immunodeficiency by defective expression of HLA class 1; Sinopulmonary infections, cutaneous granulomas. Absent _2m associated proteins MHC-I, CD1a, CD1b, CD1c; Immunodeficiencies affecting cellular and humoral immunity |
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| COVID-19 research v0.36 | ATM |
Ellen McDonagh gene: ATM was added gene: ATM was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATM were set to 27421701; 2136770; 27884168; 7792600; 2005780 Phenotypes for gene: ATM were set to Ataxia telangiectasia (ATM); immunodeficiency; Combined immunodeficiencies with associated or syndromic features; Ataxia, telangiectasia, pulmonary infections, lymphoreticular and other malignancies, increased alpha fetoprotein, increased radiosensitivity, chromosomal instability and chromosomal translocations; Ataxia-telangiectasia, 208900 |
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| COVID-19 research v0.36 | ARPC1B |
Ellen McDonagh gene: ARPC1B was added gene: ARPC1B was added to Viral susceptibility. Sources: Expert Review Green,North West GLH,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: ARPC1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARPC1B were set to 29127144; 28368018; 27965109 Phenotypes for gene: ARPC1B were set to inflammatory predisposition; Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718; Mild thrombocytopenia with normal sized platelets, recurrent invasive infections, colitis, vasculitis, autoantibodies (ANA, ANCA), eosinophilia, defective Arp2/3, filament branching; Immunodeficiency with thrombocytopenia; Combined immunodeficiencies with associated or syndromic features; Thrombocytopenia & Immune Deficiency |
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| COVID-19 research v0.36 | AP3B1 |
Ellen McDonagh gene: AP3B1 was added gene: AP3B1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP3B1 were set to 28585318; 16537806; 11809908; 16507770; 19679886; 14566336; 8042664; 23403622; 10024875 Phenotypes for gene: AP3B1 were set to Partial albinism, recurrent infections, pulmonary fibrosis, increased bleeding, neutropenia, HLH; Immunodeficient HPS; Hermansky-Pudlak syndrome 2; Diseases of Immune Dysregulation; Hermansky-Pudlak syndrome with neutropenia; Hermansky-Pudlak syndrome, 608233; HPS2 |
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| COVID-19 research v0.36 | AK2 |
Ellen McDonagh gene: AK2 was added gene: AK2 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,SCID v1.6,IUIS Classification February 2018 Mode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AK2 were set to 19043417; 19043416 Phenotypes for gene: AK2 were set to Reticular dysgenesis, AK2 deficiency; Granulocytopenia and deafness; Reticular dysgenesis, 267500; Reticular dysgenesis with sensorineural deafness; Reticular Dysgenesis AK2 (SCID); Immunodeficiencies affecting cellular and humoral immunity |
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| COVID-19 research v0.36 | AICDA |
Ellen McDonagh gene: AICDA was added gene: AICDA was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,A- or hypo-gammaglobulinaemia v1.25,IUIS Classification February 2018 Mode of inheritance for gene: AICDA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AICDA were set to 27701145; 21700883; 12958596 Phenotypes for gene: AICDA were set to Hyper IgM syndrome with lymphoid hyperplasia; Primary Immune Deficiencies; Immunodeficiency with hyper-IgM, type 2, 605258; Bacterial infections, enlarged lymph nodes and germinal centers; Predominantly Antibody Deficiencies; Immunodeficiency with hyper-IgM, type 2; CSR defects and Hyper IgM (HIGM) syndromes |
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| COVID-19 research v0.36 | ADAR |
Ellen McDonagh gene: ADAR was added gene: ADAR was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAR were set to 25604658; 24183309; 23001123; 24262145; 27643693; 25769924 Phenotypes for gene: ADAR were set to Fever Syndromes and Related Diseases, Aicardi-Goutieres syndrome 6, 615010; Type 1 interferonopathies; Autoinflammatory Disorders; AGS6; Classical AGS, BSN, SP |
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| COVID-19 research v0.36 | ADA2 |
Ellen McDonagh gene: ADA2 was added gene: ADA2 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADA2 were set to 24552284; 26922074; 24552285; 29564582 Phenotypes for gene: ADA2 were set to Other autoinflammatory diseases with known genetic defect; Evans' syndrome; Polyarteritis nodosa, childhood-onset, 615688; combined immunodeficiency; Polyarteritis nodosa; Deficiency of ADA2 (DADA2); Polyarteritis nodosa, childhood-onset, early-onset recurrent ischemic stroke and fever; Autoinflammatory Disorders; Fever with early onset stroke; ADA2 deficiency |
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| COVID-19 research v0.36 | ADA |
Ellen McDonagh gene: ADA was added gene: ADA was added to Viral susceptibility. Sources: Expert Review Green,Combined B and T cell defect v1.12,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,SCID v1.6,IUIS Classification February 2018 Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADA were set to Severe combined immunodeficiency due to ADA deficiency, 102700; Low NK, bone defects, may have pulmonary alveolar proteinosis, cognitive defects; Atypical Severe Combined Immunodeficiency (Atypical SCID); Immunodeficiencies affecting cellular and humoral immunity; Adenosine deaminase (ADA) deficiency; T-B+ SCID; Omenn syndrome; Severe combined immunodeficiency (SCID); T-B- SCID; Severe combined immunodeficiency due to ADA deficiency (some mosiacism noted) |
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| COVID-19 research v0.36 | ACP5 |
Ellen McDonagh gene: ACP5 was added gene: ACP5 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: ACP5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACP5 were set to 21217752; 26789720; 21217755; 26951490; 18924170; 26346816 Phenotypes for gene: ACP5 were set to Spondyloenchondrodysplasia with immune dysregulation Type 1 interferonopathies; Short stature, SP, ICC, SLE, thrombocytopenia and autoimmune hemolytic anemia, possibly recurrent bacterial and viral infections; Spondyloenchondrodysplasia with immune dysregulation, 607944; Type 1 interferonopathies; Autoinflammatory Disorders |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.39 | IRF9 | Catherine Snow Classified gene: IRF9 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.39 | IRF9 | Catherine Snow Gene: irf9 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.38 | IRF9 |
Catherine Snow gene: IRF9 was added gene: IRF9 was added to Primary immunodeficiency. Sources: Expert Review Mode of inheritance for gene: IRF9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IRF9 were set to 30143481; 30826365 Phenotypes for gene: IRF9 were set to Immunodeficiency 65, susceptibility to viral infections, 618648 Review for gene: IRF9 was set to AMBER Added comment: Identified by external reviewer as not present in the Primary immunodeficiency (version 2.37) or the research Viral susceptibility panel (version 0.35). PMID:30143481 - Life-threatening Influenza Pneumonitis in a Child With Inherited IRF9 Deficiency. 5 year old Algerian girl homozygous for LOF variant c.991G>A and was hospitalized for severe infection with IAV requiring mechanical ventilation and Tamiflu treatment, and who had a history of recurrent benign bronchiolitis, biliary perforation following measles-mumps-rubella (MMR) vaccination at 1 yr of age, and recurrent fevers without a causative pathogen identified. PMID:30826365 - identifies a homozygous splicing mutation in the IRF9 gene in a family of Portugese origin. The variant, c.577+1G>T (NM_006084), which is located in the donor splice site of introns 5 and 6. The proband is was a 10-year-old boy born at term to healthy consanguineous parents (first cousins of Portuguese origin and residents of Venezuela). From the first year of life, the child displayed a marked susceptibility to viral infections with moderate-to-severe symptoms of disease that resulted in persistent neurological impairment and bronchiectasis. A six month old sibling who has the same homozygous variant has had preventative treatment with IVIG and cotrimoxazole and has not presented with infections. PMID: 28878077 - During early viral infection, overwhelming antigen exposure can cause functional exhaustion of CD8+ T cells and lead to chronic infection this paper reports on a mouse study which demonstrates that IRF9 plays a role in preventing CD8+ T cell exhaustion. Sources: Expert Review |
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| COVID-19 research v0.35 | TMEM173 | Ellen McDonagh Classified gene: TMEM173 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.35 | TMEM173 | Ellen McDonagh Added comment: Comment on list classification: Promoted to Green as clear evidence for this gene in viral susceptibility. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.35 | TMEM173 | Ellen McDonagh Gene: tmem173 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.34 | TMEM173 |
Ellen McDonagh commented on gene: TMEM173: Additional evidence added to the publication list, provided by Abdelazeem Elhabyan. Comments from Abdelazeem Elhabyan: GenBank - https://www.ncbi.nlm.nih.gov/gene?term=(human%5BOrganism%5D)%20AND%20TMEM173%5BGene%20Name%5D) This gene encodes a five transmembrane protein that functions as a major regulator of the innate immune response to viral and bacterial infections. The encoded protein is a pattern recognition receptor that detects cytosolic nucleic acids and transmits signals that activate type I interferon responses. Hypothesis: This gene is involved in interferon 1 pathway which is directly related to viral innate immune response. Upregulation may be associated with a protective effect or autoinflammatory response with aggravating effect. This is to be determined by clinical trials. Highest organ of expression is the lung in genbank (Pneumonia caused by corona) RPKM ,\mean is 37 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7069765/ Extracellular vesicles released by virally infected cells(HSV) that carry STING can induce protective effect against viral replication in neighbouring non infected cells https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6146713/ Virulent Poxviruses Inhibit DNA Sensing by Preventing STING Activation https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5923072/ The gene is involved in acute pancreatitis in mice https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6112120/ |
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| COVID-19 research v0.33 | TMEM173 |
Ellen McDonagh gene: TMEM173 was added gene: TMEM173 was added to Viral susceptibility. Sources: Expert list new-gene-name tags were added to gene: TMEM173. Mode of inheritance for gene: TMEM173 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TMEM173 were set to 25029335; 25401470; 30705050; 29976662; 29491158; 29425920 Phenotypes for gene: TMEM173 were set to STING-associated vasculopathy, infantile-onset 615934; Type 1 interferonopathies; Skin vasculopathy, inflammatory lung disease, systemic autoinflammation and ICC, FCL; Autoinflammatory Disorders Added comment: This gene is Green on the Primary immunodeficiency (Version 2.37) gene panel. Sources: Expert list |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.37 | TMEM173 |
Ellen McDonagh Added comment: Comment on publications: Additional evidence added to the publication list, provided by Abdelazeem Elhabyan. Comments from Abdelazeem Elhabyan: GenBank - https://www.ncbi.nlm.nih.gov/gene?term=(human%5BOrganism%5D)%20AND%20TMEM173%5BGene%20Name%5D) This gene encodes a five transmembrane protein that functions as a major regulator of the innate immune response to viral and bacterial infections. The encoded protein is a pattern recognition receptor that detects cytosolic nucleic acids and transmits signals that activate type I interferon responses. Hypothesis: This gene is involved in interferon 1 pathway which is directly related to viral innate immune response. Upregulation may be associated with a protective effect or autoinflammatory response with aggravating effect. This is to be determined by clinical trials. Highest organ of expression is the lung in genbank (Pneumonia caused by corona) RPKM ,\mean is 37 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7069765/ Extracellular vesicles released by virally infected cells(HSV) that carry STING can induce protective effect against viral replication in neighbouring non infected cells https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6146713/ Virulent Poxviruses Inhibit DNA Sensing by Preventing STING Activation https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5923072/ The gene is involved in acute pancreatitis in mice https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6112120/ |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.37 | TMEM173 | Ellen McDonagh Publications for gene: TMEM173 were set to 25029335; 25401470 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.24 | PIGK |
Zornitza Stark changed review comment from: 12 individuals from 9 unrelated families reported. Sources: Expert list; to: 12 individuals from 9 unrelated families reported. Suggest adding to Genetic Epilepsy panel as well. Sources: Expert list |
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| Intellectual disability v3.24 | PIGK |
Zornitza Stark gene: PIGK was added gene: PIGK was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: PIGK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGK were set to 32220290 Phenotypes for gene: PIGK were set to Intellectual disability; seizures; cerebellar atrophy Review for gene: PIGK was set to GREEN gene: PIGK was marked as current diagnostic Added comment: 12 individuals from 9 unrelated families reported. Sources: Expert list |
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| Intellectual disability v3.24 | ADARB1 |
Zornitza Stark changed review comment from: Four unrelated individuals with bi-allelic variants in this gene. Sources: Literature; to: Four unrelated individuals with bi-allelic variants in this gene. Suggest also adding to Genetic Epilepsy and Microcephaly panels. Sources: Literature |
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| Intellectual disability v3.24 | ADARB1 |
Zornitza Stark gene: ADARB1 was added gene: ADARB1 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: ADARB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADARB1 were set to 32220291 Phenotypes for gene: ADARB1 were set to Intellectual disability; microcephaly; seizures Review for gene: ADARB1 was set to GREEN gene: ADARB1 was marked as current diagnostic Added comment: Four unrelated individuals with bi-allelic variants in this gene. Sources: Literature |
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| Hereditary neuropathy or pain disorder v1.4 | PDK3 | Zornitza Stark reviewed gene: PDK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23297365, 26801680, 27388934, 28902413; Phenotypes: Charcot-Marie-Tooth disease, X-linked dominant, 6 MIM#300905, HMSN; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.4 | NTRK1 | Zornitza Stark reviewed gene: NTRK1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Insensitivity to pain, congenital, with anhidrosis, MIM# 256800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.12 | KIF14 |
Catherine Snow changed review comment from: PMID:30388224 same authors as PMID: 24128419 identified two families and reported on two further families which had already previously been reported upon in PMID: 28566479. All fetuses had biallelic pathogenic variants. PMID: 28892560 - Reported on four individuals with variants in KIF14. 3/4 had no problems with renal system, 1/4 a German boy, was identified who had small kidneys with increased echogenicity. WES of the German patient revealed 2 compound heterozygous missense variants of KIF14. One of these variants (NM_014875.2;c.2545C>G;p.His849Asp) replaces a histidine by aspartic acid and is predicted to be disease causing. (NM_014875.2;c.3662G>T;p.Gly1221Val) introduces valine at a position of glycine that is not conserved among different animals. This variant affects the first nucleotide of exon 24, a position that might impair splicing. PMID: 29343805 - Biallelic Variants in KIF14 Cause Intellectual Disability With Microcephaly. 4 unrelated individuals identified but all asymptomatic in the Genitourinary system. Rating as Amber and requesting support from clinical team as unsure of KIF14 and its broad phenotypes.; to: PMID:30388224 identified two families and reported on two further families which had already previously been reported upon in PMID: 28566479. All fetuses had biallelic pathogenic variants in KIF14 and had phenotypes within the spectrum of fetal forms of ciliopathies, Meckel–Gruber syndrome (MKS) - (intrauterine growth restriction, cystic kidneys and brain developmental defects, including cerebellar hypoplasia and vermis agenesis) The paper also includes functional work on Zebrafish and reported that in vitro and in vivo analyses did not provide evidence of a direct role for KIF14 in ciliogenesis and suggested that loss of kif14 causes ciliopathy-like phenotypes through an accumulation of mitotic cells in ciliated tissues. PMID: 28892560 - Reported on four individuals with variants in KIF14. 3/4 had no problems with renal system, 1/4 a German boy, was identified who had small kidneys with increased echogenicity. WES of the German patient revealed 2 compound heterozygous missense variants of KIF14. One of these variants (NM_014875.2;c.2545C>G;p.His849Asp) replaces a histidine by aspartic acid and is predicted to be disease causing. (NM_014875.2;c.3662G>T;p.Gly1221Val) introduces valine at a position of glycine that is not conserved among different animals. This variant affects the first nucleotide of exon 24, a position that might impair splicing. PMID: 29343805 - Biallelic Variants in KIF14 Cause Intellectual Disability With Microcephaly. 4 unrelated individuals identified but all asymptomatic in the Genitourinary system. Rating as Amber and requesting support from clinical team as unsure of KIF14 is relevant for this panel? |
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| Renal ciliopathies v1.12 | KIF14 |
Catherine Snow changed review comment from: PMID:30388224 same authors as PMID: 24128419 identified two families and reported on two further families which had already previously been reported upon in PMID: 28566479. All fetuses had biallelic pathogenic variants. PMID: 28892560 - Reported on four individuals with variants in KIF14. 3/4 had no problems with renal system, 1/4 a German boy, was identified who had small kidneys with increased echogenicity. WES of the German patient revealed 2 compound heterozygous missense variants of KIF14. One of these variants (NM_014875.2;c.2545C>G;p.His849Asp) replaces a histidine by aspartic acid and is predicted to be disease causing. (NM_014875.2;c.3662G>T;p.Gly1221Val) introduces valine at a position of glycine that is not conserved among different animals. This variant affects the first nucleotide of exon 24, a position that might impair splicing. PMID: 29343805 - Biallelic Variants in KIF14 Cause Intellectual Disability With Microcephaly. 4 unrelated individuals identified but all asymptomatic in the Genitourinary system.; to: PMID:30388224 same authors as PMID: 24128419 identified two families and reported on two further families which had already previously been reported upon in PMID: 28566479. All fetuses had biallelic pathogenic variants. PMID: 28892560 - Reported on four individuals with variants in KIF14. 3/4 had no problems with renal system, 1/4 a German boy, was identified who had small kidneys with increased echogenicity. WES of the German patient revealed 2 compound heterozygous missense variants of KIF14. One of these variants (NM_014875.2;c.2545C>G;p.His849Asp) replaces a histidine by aspartic acid and is predicted to be disease causing. (NM_014875.2;c.3662G>T;p.Gly1221Val) introduces valine at a position of glycine that is not conserved among different animals. This variant affects the first nucleotide of exon 24, a position that might impair splicing. PMID: 29343805 - Biallelic Variants in KIF14 Cause Intellectual Disability With Microcephaly. 4 unrelated individuals identified but all asymptomatic in the Genitourinary system. Rating as Amber and requesting support from clinical team as unsure of KIF14 and its broad phenotypes. |
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| Renal ciliopathies v1.12 | KIF14 | Catherine Snow reviewed gene: KIF14: Rating: AMBER; Mode of pathogenicity: None; Publications: 30388224, 28892560, 29343805; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.34 | SETD1B | Sarah Leigh changed review comment from: Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene for SETD1B associated intellectual disability, epilepsy and autism. At least 3 variants reported in at least 3 unrelated cases (PMID29322246; 31440728 31685013). Strucutral variants have also been reported that encompass SETD1B (PMID 20648245; 27106595; 25428890; 22369279).; to: Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene for SETD1B associated intellectual disability, epilepsy and autism. At least 3 variants reported in at least 3 unrelated cases who displayed epilepsy (PMID29322246; 31440728 31685013). Strucutral variants have also been reported that encompass SETD1B (PMID 20648245; 27106595; 25428890; 22369279). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.34 | SETD1B | Sarah Leigh changed review comment from: Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene for SETD1B associated intellectual disability, epilepsy and autism. At least 3 variants reported in at least 3 unrelated cases. Strucutral variants have also been reported that encompass SETD1B.; to: Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene for SETD1B associated intellectual disability, epilepsy and autism. At least 3 variants reported in at least 3 unrelated cases (PMID29322246; 31440728 31685013). Strucutral variants have also been reported that encompass SETD1B (PMID 20648245; 27106595; 25428890; 22369279). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.34 | SETD1B | Sarah Leigh Publications for gene: SETD1B were set to 29322246; 31440728; 31685013 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.33 | SETD1B | Sarah Leigh Classified gene: SETD1B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.33 | SETD1B | Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene for SETD1B associated intellectual disability, epilepsy and autism. At least 3 variants reported in at least 3 unrelated cases. Strucutral variants have also been reported that encompass SETD1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.33 | SETD1B | Sarah Leigh Gene: setd1b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.32 | SETD1B | Sarah Leigh Phenotypes for gene: SETD1B were changed from to Epilepsy with myoclonic absences; intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.31 | SETD1B | Sarah Leigh Added comment: Comment on mode of inheritance: Mode of inheritance obtained from Gen2Phen | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.31 | SETD1B | Sarah Leigh Mode of inheritance for gene: SETD1B was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.30 | SETD1B | Sarah Leigh Publications for gene: SETD1B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.29 | SETD1A | Sarah Leigh changed review comment from: Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene for intellectual disability. At least 4 variants reported, 3 de novo and 1 segrating in a family.; to: Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene for intellectual disability. At least 4 variants reported, 3 de novo and 1 segregating in a family. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.29 | SETD1A | Sarah Leigh Classified gene: SETD1A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.29 | SETD1A | Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene for intellectual disability. At least 4 variants reported, 3 de novo and 1 segrating in a family. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.29 | SETD1A | Sarah Leigh Gene: setd1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.58 | CEP55 | Rebecca Foulger Classified gene: CEP55 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.58 | CEP55 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Green. Gene was added to the panel and rated Green by Zornitza Stark. 3 separate variants from 3 different ethnic groups (2 of the variants are likely Founder variants), plus zebrafish model. Most homozygous nonsense variants are embryonic lethal but PMID:28295209 report viable compound het missense variants. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.58 | CEP55 | Rebecca Foulger Gene: cep55 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.57 | CEP55 | Rebecca Foulger Phenotypes for gene: CEP55 were changed from Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500 to Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500; MARCH syndrome; Meckel-like syndrome; lethal CEP55-related syndromes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.56 | CEP55 | Rebecca Foulger Publications for gene: CEP55 were set to 30622327; 28264986 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.55 | CEP55 | Rebecca Foulger commented on gene: CEP55: PMID:32100459 (Barrie et al., 2020) describe 7 individuals from 5 families with biallelic CEP55 variants. This is the first reported case of missense variants in CEP55 (Previously only a prenatal lethal phenotype was reported due to homozygous CEP55 nonsense variants). The authors suggest that compound het cases with nonsense and missense CEP55 variants have a different viable phenotype. Homozgyosity for a splice variant in CEP55 is compatible with life. Renal abnormality was reported in Patient 3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.55 | CEP55 | Rebecca Foulger commented on gene: CEP55: PMID:28295209. Bondeson et al report a Swedish couple with 2 affected male fetuses homozygous for CEP55 p.Arg86*. Although the phenotype differed between fetuses, both exhibited kidney phenotypes (including renal dysplaisa). Segregation analysis supported the gene:disease association, and Haplotype analysis suggested a founder effect. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v1.7 | CD151 | Eleanor Williams Classified gene: CD151 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v1.7 | CD151 | Eleanor Williams Added comment: Comment on list classification: Changing rating from red to amber as 2 cases have been reported with end stage renal disease, although the same variant is reported and the families are from the same ethnic origin. Also the presentation is syndromic so end-stage renal disease is unlikely to be the only phenotype picked up. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v1.7 | CD151 | Eleanor Williams Gene: cd151 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v1.6 | CD151 | Eleanor Williams Phenotypes for gene: CD151 were changed from to Nephropathy with pretibial epidermolysis bullosa and deafness 609057 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v1.5 | CD151 | Eleanor Williams Publications for gene: CD151 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v1.4 | CD151 | Eleanor Williams Mode of inheritance for gene: CD151 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v1.3 | CD151 |
Eleanor Williams edited their review of gene: CD151: Added comment: Associated with Nephropathy with pretibial epidermolysis bullosa and deafness #609057 in OMIM. The 3 patients from 2 families described in PMID: 15265795 - Karamatic Crew et al 2004 all had end-stage kidney disease and homozygous insertion in the CD151 gene. Although they are described as unrelated both families are of Indian Jewish origin. The ages of the patients are not reported. Another case is described in PMID: 29138120 - Vahidnezhad et al 2018 where the patient had history of nephropathy with proteinuria. PMID: 17015618 - Sachs et al 2006 - report the generation of Cd151-null mice that recapitulate the renal pathology of human patients, i.e., with age they develop massive proteinuria; Changed publications: 15265795, 29138120, 17015618; Changed phenotypes: Nephropathy with pretibial epidermolysis bullosa and deafness 609057; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal |
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| Unexplained kidney failure in young people v1.89 | CD151 | Eleanor Williams changed review comment from: Comment on list classification: Changing rating from red to amber as 2 cases have been reported with end stage renal disease, although the same variant is reported and the families are from the same ethnic origin.; to: Comment on list classification: Changing rating from red to amber as 2 cases have been reported with end stage renal disease, although the same variant is reported and the families are from the same ethnic origin. Also the presentation is syndromic so end-stage renal disease is unlikely to be the only phenotype picked up. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.55 | CEP55 | Rebecca Foulger Publications for gene: CEP55 were set to 30622327 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.54 | CEP55 | Rebecca Foulger commented on gene: CEP55: PMID:28264986: Frosk et al, 2017 report a Dutch-German Mennonite family with 3 affected fetuses homozygous for CEP55 nonsense variant p.Ser425* presenting with MIM:236500 including renal dysplasia. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.54 | CEP55 | Rebecca Foulger commented on gene: CEP55 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained kidney failure in young people v1.89 | CD151 | Eleanor Williams Phenotypes for gene: CD151 were changed from Nephropathy with pretibial epidermolysis bullosa and deafness 609057 to Nephropathy with pretibial epidermolysis bullosa and deafness 609057 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained kidney failure in young people v1.88 | CD151 | Eleanor Williams Phenotypes for gene: CD151 were changed from to Nephropathy with pretibial epidermolysis bullosa and deafness 609057 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained kidney failure in young people v1.87 | CD151 | Eleanor Williams Publications for gene: CD151 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained kidney failure in young people v1.86 | CD151 | Eleanor Williams Mode of inheritance for gene: CD151 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained kidney failure in young people v1.85 | CD151 | Eleanor Williams Classified gene: CD151 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained kidney failure in young people v1.85 | CD151 | Eleanor Williams Added comment: Comment on list classification: Changing rating from red to amber as 2 cases have been reported with end stage renal disease, although the same variant is reported and the families are from the same ethnic origin. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained kidney failure in young people v1.85 | CD151 | Eleanor Williams Gene: cd151 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained kidney failure in young people v1.84 | CD151 |
Eleanor Williams changed review comment from: Associated with Nephropathy with pretibial epidermolysis bullosa and deafness #609057 in OMIM. The 3 patients from 2 families described in PMID: 15265795 - Karamatic Crew et al 2004 all had end-stage kidney disease and homozygous insertion in the CD151 gene. Although they are described as unrelated both families are of Indian Jewish origin.; to: Associated with Nephropathy with pretibial epidermolysis bullosa and deafness #609057 in OMIM. The 3 patients from 2 families described in PMID: 15265795 - Karamatic Crew et al 2004 all had end-stage kidney disease and homozygous insertion in the CD151 gene. Although they are described as unrelated both families are of Indian Jewish origin. The ages of the patients are not reported. Another case is described in PMID: 29138120 - Vahidnezhad et al 2018 where the patient had history of nephropathy with proteinuria. PMID: 17015618 - Sachs et al 2006 - report the generation of Cd151-null mice that recapitulate the renal pathology of human patients, i.e., with age they develop massive proteinuria |
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| Unexplained kidney failure in young people v1.84 | CD151 | Eleanor Williams edited their review of gene: CD151: Changed publications: 15265795 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained kidney failure in young people v1.84 | CD151 | Eleanor Williams commented on gene: CD151 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.23 | CD151 |
Eleanor Williams changed review comment from: Associated with Nephropathy with pretibial epidermolysis bullosa and deafness #609057 in OMIM (no inheritance pattern given). 2 patients are described as having proteinuria in the nephrotic range among other features. 3 cases plus mouse model that replicates the kidney phenotype: PMID: 15265795 - Karamatic Crew et al 2004 - report two sibs and a third unrelated patient, all of Indian Jewish origin who lack the MER2 antigen and have made anti-MER2. All had end-stage kidney disease. The two sibs had other phenotypic features such as pretibial bullous skin lesions, neurosensory deafness, bilateral lacrimal duct stenosis, nail dystrophy, and β-thalassemia minor. Less information available about the 3rd patient. Direct sequencing of all CD151 exons revealed a homozygous single nucleotide insertion G383 which causes a frameshift after Lys127, introducing a premature stop signal at codon 140. Ages of patients are not given. PMID: 29138120 - Vahidnezhad et al 2018 - report 1 consangineous family with Epidermolysis bullosa which was screened using a gene panel and NGS. A homozygous donor splice site mutation in CD151 (NM_139029; c.351+2T>C) was found. In this family the 33-year old proband, initially diagnosed as Kindler syndrome, had widespread blistering, poikiloderma, nail dystrophy, loss of teeth, early onset alopecia, and esophageal webbing and strictures. The patient also had history of nephropathy with proteinuria. (Abstract only accessed). PMID: 17015618 - Sachs et al 2006 - report the generation of Cd151-null mice that recapitulate the renal pathology of human patients, i.e., with age they develop massive proteinuria caused by focal glomerulosclerosis, disorganization of the glomerular basement membrane, and tubular cystic dilation. The skin and hearing phenotypes were not observed.; to: Associated with Nephropathy with pretibial epidermolysis bullosa and deafness #609057 in OMIM (no inheritance pattern given). 2 patients are described as having proteinuria in the nephrotic range among other features. 3 cases (but 2 have the same variant - founder effect?) plus mouse model that replicates the kidney phenotype: PMID: 15265795 - Karamatic Crew et al 2004 - report two sibs and a third unrelated patient, all of Indian Jewish origin who lack the MER2 antigen and have made anti-MER2. All had end-stage kidney disease. The two sibs had other phenotypic features such as pretibial bullous skin lesions, neurosensory deafness, bilateral lacrimal duct stenosis, nail dystrophy, and β-thalassemia minor. Less information available about the 3rd patient. Direct sequencing of all CD151 exons revealed a homozygous single nucleotide insertion G383 which causes a frameshift after Lys127, introducing a premature stop signal at codon 140. Ages of patients are not given. PMID: 29138120 - Vahidnezhad et al 2018 - report 1 consangineous family with Epidermolysis bullosa which was screened using a gene panel and NGS. A homozygous donor splice site mutation in CD151 (NM_139029; c.351+2T>C) was found. In this family the 33-year old proband, initially diagnosed as Kindler syndrome, had widespread blistering, poikiloderma, nail dystrophy, loss of teeth, early onset alopecia, and esophageal webbing and strictures. The patient also had history of nephropathy with proteinuria. (Abstract only accessed). PMID: 17015618 - Sachs et al 2006 - report the generation of Cd151-null mice that recapitulate the renal pathology of human patients, i.e., with age they develop massive proteinuria caused by focal glomerulosclerosis, disorganization of the glomerular basement membrane, and tubular cystic dilation. The skin and hearing phenotypes were not observed. |
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| COVID-19 research v0.32 | IFIH1 | Ellen McDonagh Publications for gene: IFIH1 were set to 29018476 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.31 | IFIH1 | Ellen McDonagh Classified gene: IFIH1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.31 | IFIH1 | Ellen McDonagh Added comment: Comment on list classification: Biallelic variants associated with susceptibility to RNA viruses. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.31 | IFIH1 | Ellen McDonagh Gene: ifih1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.30 | G6PD | Ellen McDonagh Classified gene: G6PD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.30 | G6PD | Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to expert reviews from the Primary immunodeficiency panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.30 | G6PD | Ellen McDonagh Gene: g6pd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.29 | G6PD | Ellen McDonagh Publications for gene: G6PD were set to 26694452; 18269318 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.28 | SERPINI1 | Sarah Leigh Classified gene: SERPINI1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.28 | SERPINI1 | Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 5 variants reported in unrelated cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.28 | SERPINI1 | Sarah Leigh Gene: serpini1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.27 | SERPINI1 | Sarah Leigh Phenotypes for gene: SERPINI1 were changed from Encephalopathy, familial, with neuroserpin inclusion bodies MIM#604218 to Encephalopathy, familial, with neuroserpin inclusion bodies 604218 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.54 | CEP55 | Rebecca Foulger Phenotypes for gene: CEP55 were changed from Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM# 236500 to Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.53 | CENPF | Rebecca Foulger Classified gene: CENPF as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.53 | CENPF | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Amber. Gene was added to panel and rated Green by Zornitza Stark. Although CENPF has 'probable' disease confidence in Gene2Phenotype for Stromme syndrome, there are sufficient cases in OMIM and the literature to support the gene:disease association. Hydronephrosis/renal hypoplasia is seen in at least 2 Stromme families, but the phenotype is variable. CENPF is Green on the 'Renal ciliopathies' panel (Panel #725, V1.12). Rated as Amber awaiting further clinical feedback. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.53 | CENPF | Rebecca Foulger Gene: cenpf has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.23 | CD151 | Eleanor Williams Publications for gene: CD151 were set to 15265795; 17015618; 29138120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.22 | CD151 | Eleanor Williams Publications for gene: CD151 were set to 15265795 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.21 | CD151 | Eleanor Williams Mode of inheritance for gene: CD151 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.20 | CD151 | Eleanor Williams Classified gene: CD151 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.20 | CD151 | Eleanor Williams Added comment: Comment on list classification: 3 cases reported plus mouse model | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.20 | CD151 | Eleanor Williams Gene: cd151 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.19 | CD151 |
Eleanor Williams commented on gene: CD151: Associated with Nephropathy with pretibial epidermolysis bullosa and deafness #609057 in OMIM (no inheritance pattern given). 2 patients are described as having proteinuria in the nephrotic range among other features. 3 cases plus mouse model that replicates the kidney phenotype: PMID: 15265795 - Karamatic Crew et al 2004 - report two sibs and a third unrelated patient, all of Indian Jewish origin who lack the MER2 antigen and have made anti-MER2. All had end-stage kidney disease. The two sibs had other phenotypic features such as pretibial bullous skin lesions, neurosensory deafness, bilateral lacrimal duct stenosis, nail dystrophy, and β-thalassemia minor. Less information available about the 3rd patient. Direct sequencing of all CD151 exons revealed a homozygous single nucleotide insertion G383 which causes a frameshift after Lys127, introducing a premature stop signal at codon 140. Ages of patients are not given. PMID: 29138120 - Vahidnezhad et al 2018 - report 1 consangineous family with Epidermolysis bullosa which was screened using a gene panel and NGS. A homozygous donor splice site mutation in CD151 (NM_139029; c.351+2T>C) was found. In this family the 33-year old proband, initially diagnosed as Kindler syndrome, had widespread blistering, poikiloderma, nail dystrophy, loss of teeth, early onset alopecia, and esophageal webbing and strictures. The patient also had history of nephropathy with proteinuria. (Abstract only accessed). PMID: 17015618 - Sachs et al 2006 - report the generation of Cd151-null mice that recapitulate the renal pathology of human patients, i.e., with age they develop massive proteinuria caused by focal glomerulosclerosis, disorganization of the glomerular basement membrane, and tubular cystic dilation. The skin and hearing phenotypes were not observed. |
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| CAKUT v1.52 | CENPF | Rebecca Foulger commented on gene: CENPF: PMID:26820108 (Filges et al., 2016) describe long-term clinical follow up for siblings reported by Stromme et al. (1993) with intestingal atresia, ocular anomalis and microcephaly. They detect truncating compound het variants in CENPF in the original family (Family A) and an additional sibling pair (Family B). The original siblings (Family A) had normal renal newborn ultrasounds. The additional siblings (Family B) had Hydronephrosis/bilateral renal hypoplasia in addition to Duodenal atresia and other gastrointestinal phenotypes. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.52 | CENPF | Rebecca Foulger commented on gene: CENPF: PMID:25564561 (Waters et al., 2015) ientified a non-consagnuineous Caucasian kindred with 4 affected fetuses. Autopsy revealed phenotypes including Duodenal atresia and Bilateral renal hypolasia. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.52 | CENPF | Rebecca Foulger commented on gene: CENPF: PMID:28407396 (Ozkinay et al., 2017) report a Stromme syndrome family with 2 affected individuals and a homozygous p.T1974Nfs*9 variant in CENPF. Renal phenotypes are not recorded in table 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.52 | CENPF | Rebecca Foulger commented on gene: CENPF | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.52 | CENPF | Rebecca Foulger Publications for gene: CENPF were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.51 | CENPF | Rebecca Foulger Phenotypes for gene: CENPF were changed from Stromme syndrome, 243605 to Stromme syndrome, 243605; bilateral renal hypoplasia; Duodenal atresia; Hydronephrosis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.27 | IRF3 |
Ellen McDonagh gene: IRF3 was added gene: IRF3 was added to Viral susceptibility. Sources: Expert list,Expert Review Amber Mode of inheritance for gene: IRF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: IRF3 were set to {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, MIM616532 |
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| COVID-19 research v0.27 | UNC93B1 |
Ellen McDonagh Source Melbourne Genomics Health Alliance Immunology Flagship was added to UNC93B1. Source Victorian Clinical Genetics Services was added to UNC93B1. Source Expert Review Green was added to UNC93B1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| COVID-19 research v0.27 | TRAF3 |
Ellen McDonagh gene: TRAF3 was added gene: TRAF3 was added to Viral susceptibility. Sources: Melbourne Genomics Health Alliance Immunology Flagship,Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: TRAF3 was set to Unknown |
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| COVID-19 research v0.27 | TMC8 |
Ellen McDonagh Source Melbourne Genomics Health Alliance Immunology Flagship was added to TMC8. Source Victorian Clinical Genetics Services was added to TMC8. Source Expert Review Green was added to TMC8. Mode of inheritance for gene TMC8 was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| COVID-19 research v0.27 | TMC6 |
Ellen McDonagh Source Melbourne Genomics Health Alliance Immunology Flagship was added to TMC6. Source Victorian Clinical Genetics Services was added to TMC6. Source Expert Review Green was added to TMC6. Mode of inheritance for gene TMC6 was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| COVID-19 research v0.27 | TLR3 |
Ellen McDonagh gene: TLR3 was added gene: TLR3 was added to Viral susceptibility. Sources: Melbourne Genomics Health Alliance Immunology Flagship,Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: TLR3 was set to Unknown |
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| COVID-19 research v0.27 | TICAM1 |
Ellen McDonagh gene: TICAM1 was added gene: TICAM1 was added to Viral susceptibility. Sources: Melbourne Genomics Health Alliance Immunology Flagship,Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: TICAM1 was set to Unknown |
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| COVID-19 research v0.27 | TBK1 |
Ellen McDonagh gene: TBK1 was added gene: TBK1 was added to Viral susceptibility. Sources: Melbourne Genomics Health Alliance Immunology Flagship,Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: TBK1 was set to Unknown |
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| COVID-19 research v0.27 | STAT2 |
Ellen McDonagh gene: STAT2 was added gene: STAT2 was added to Viral susceptibility. Sources: Melbourne Genomics Health Alliance Immunology Flagship,Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: STAT2 was set to Unknown |
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| COVID-19 research v0.27 | STAT1 |
Ellen McDonagh gene: STAT1 was added gene: STAT1 was added to Viral susceptibility. Sources: Melbourne Genomics Health Alliance Immunology Flagship,Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: STAT1 was set to Unknown |
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| COVID-19 research v0.27 | MSN |
Ellen McDonagh gene: MSN was added gene: MSN was added to Viral susceptibility. Sources: Expert list,Expert Review Green Mode of inheritance for gene: MSN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MSN were set to Immunodeficiency 50, MIM300988 |
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| COVID-19 research v0.27 | IRF7 |
Ellen McDonagh Source Melbourne Genomics Health Alliance Immunology Flagship was added to IRF7. Source Victorian Clinical Genetics Services was added to IRF7. Source Expert Review Green was added to IRF7. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| COVID-19 research v0.27 | FCGR3A |
Ellen McDonagh gene: FCGR3A was added gene: FCGR3A was added to Viral susceptibility. Sources: Melbourne Genomics Health Alliance Immunology Flagship,Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: FCGR3A was set to Unknown |
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| COVID-19 research v0.27 | CXCR4 |
Ellen McDonagh gene: CXCR4 was added gene: CXCR4 was added to Viral susceptibility. Sources: Melbourne Genomics Health Alliance Immunology Flagship,Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: CXCR4 was set to Unknown |
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| Hereditary neuropathy or pain disorder v1.4 | DRP2 | Zornitza Stark reviewed gene: DRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26227883, 11430802, 31217940, 22764250, 29473052; Phenotypes: X-linked Charcot-Marie-Tooth; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.4 | DHTKD1 | Zornitza Stark reviewed gene: DHTKD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23141294, 29661920, 28902413; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2Q, MIM#615025; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.50 | CENPF | Rebecca Foulger Phenotypes for gene: CENPF were changed from Stromme syndrome, MIM#243605 to Stromme syndrome, 243605 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.49 | BMP7 | Rebecca Foulger Classified gene: BMP7 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.49 | BMP7 | Rebecca Foulger Added comment: Comment on list classification: BMP7 was added to CAKUT panel and rated Red by Zornitza Stark. Updated rating from Grey to Red to match Zornitza's review: There are additional functional papers reporting a role for BMP7 in renal tissues, but only one reported family plus a mouse model. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.49 | BMP7 | Rebecca Foulger Gene: bmp7 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.48 | BMP7 | Rebecca Foulger commented on gene: BMP7: PMID:7590254 (Dudley et al., 1995) report that mice lacking BMP7 display severe defects confined to the developing kidney and eye (renal dysplasia and anophthalmia at birth). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.48 | BMP7 | Rebecca Foulger commented on gene: BMP7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.4 | ARHGEF10 | Zornitza Stark reviewed gene: ARHGEF10: Rating: GREEN; Mode of pathogenicity: None; Publications: 14508709, 21719701, 25025039, 25275565, 25091364; Phenotypes: Slowed nerve conduction velocity, MIM# 608236; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.3 | MYH7 | Zornitza Stark reviewed gene: MYH7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.19 | APOE | Eleanor Williams commented on gene: APOE: Set Penetrance to incomplete as several reports of unaffected individuals who carry the same variants as affected individuals. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.19 | APOE |
Eleanor Williams Source Expert list was removed from APOE. Source Literature was added to APOE. Penetrance for gene APOE was set from to None |
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| Proteinuric renal disease v2.18 | APOE | Eleanor Williams Publications for gene: APOE were set to 10432380; 9176854; 18077821 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.17 | APOE | Eleanor Williams Classified gene: APOE as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.17 | APOE | Eleanor Williams Added comment: Comment on list classification: Changing rating from grey to green as many published cases of variants in APOE in patients with Lipoprotein glomerulopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.17 | APOE | Eleanor Williams Gene: apoe has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.16 | APOE |
Eleanor Williams changed review comment from: Associated with Lipoprotein glomerulopathy #611771 in OMIM. No inheritance pattern listed. Several publications report variants in the APOE gene in association with Lipoprotein glomerulopathy, mostly in individuals of Asian ethnicity but also in those with European ancestry for example (PMID: 18077821 - Rovin et al 2007). PMID: 31092271 - Xie et al 2019 lists many of the published variants (~12 to date, mostly point mutations, but also some deletions) In several cases clinical asymptomatic carriers (all female?) also carry the same variants as probands e.g. PMID: 18077821 - Rovin et al 2007 PMID: 10432380 - Matsunaga et al 1999 PMID: 31092271 - Xie et al 2019 ; to: Associated with Lipoprotein glomerulopathy #611771 in OMIM. No inheritance pattern listed. Several publications report variants in the APOE gene in association with Lipoprotein glomerulopathy, mostly in individuals of Asian ethnicity but also in those with European ancestry (for example PMID: 18077821 - Rovin et al 2007). PMID: 31092271 - Xie et al 2019 lists many of the published variants (~12 to date, mostly point mutations, but also some deletions) In several cases clinical asymptomatic carriers (all female?) also carry the same variants as probands e.g. PMID: 18077821 - Rovin et al 2007 PMID: 10432380 - Matsunaga et al 1999 PMID: 31092271 - Xie et al 2019 |
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| Proteinuric renal disease v2.16 | APOE |
Eleanor Williams changed review comment from: Associated with Lipoprotein glomerulopathy #611771 in OMIM. No inheritance pattern listed. PMID: 10432380 - Matsunaga et al 1999 - 32-year-old Japanese male patient with Lipoprotein glomerulopathy, whose history included proteinuria. A heterogyzous missense variant was identified termed apo E2 (Arg25Cys) Kyoto. His asymptomatic mother was also heterogyzous for this same variant. PMID: 9176854 - Oikawa et al 1997 - report 3 patients with LPG from two families all with the same variant apo E Arg145Pro named APOE Sendai. Only the APOE gene was looked at. PMID: 18077821 - Rovin et al 2007 - report two unrelated American men of European ancestry who presented with edema and proteinuria in the nephrotic range. Both patients had a heterozygous C→T transition resulting in an amino acid change Arg25Cys. Several female family members were heterozygous carriers of Arg25Cys, none had clinical evidence of lipoprotein glomerulopathy. Review to be continued; to: Associated with Lipoprotein glomerulopathy #611771 in OMIM. No inheritance pattern listed. Several publications report variants in the APOE gene in association with Lipoprotein glomerulopathy, mostly in individuals of Asian ethnicity but also in those with European ancestry for example (PMID: 18077821 - Rovin et al 2007). PMID: 31092271 - Xie et al 2019 lists many of the published variants (~12 to date, mostly point mutations, but also some deletions) In several cases clinical asymptomatic carriers (all female?) also carry the same variants as probands e.g. PMID: 18077821 - Rovin et al 2007 PMID: 10432380 - Matsunaga et al 1999 PMID: 31092271 - Xie et al 2019 |
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| Proteinuric renal disease v2.16 | APOE | Eleanor Williams commented on gene: APOE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.48 | ISL1 |
Rebecca Foulger gene: ISL1 was added gene: ISL1 was added to CAKUT. Sources: Literature Mode of inheritance for gene: ISL1 was set to Unknown Publications for gene: ISL1 were set to 23641053 Phenotypes for gene: ISL1 were set to CAKUT Review for gene: ISL1 was set to RED Added comment: Added ISL1 to panel as a Red gene, based on PMID:23641053 which show that conditional deletion of Isl1 in mice caused kidney agenesis or hypoplasia and hydroureter, a phenotype resembling human congenital anomalies of the kidney and urinary tract (CAKUT). No further literature evidence at this time to increase rating. Sources: Literature |
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| COVID-19 research v0.26 | G6PD | Ellen McDonagh Phenotypes for gene: G6PD were changed from Susceptible to viral infection to Susceptibility to viral infection | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.25 | FCGR2A | Ellen McDonagh Phenotypes for gene: FCGR2A were changed from Severity of severe acute respiratory syndrome (SARS) SARS-Cov to Severity of severe acute respiratory syndrome (SARS)-Cov infection | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.24 | FCGR2A |
Ellen McDonagh gene: FCGR2A was added gene: FCGR2A was added to Viral susceptibility. Sources: Literature Mode of inheritance for gene: FCGR2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FCGR2A were set to 16185324 Phenotypes for gene: FCGR2A were set to Severity of severe acute respiratory syndrome (SARS) SARS-Cov Added comment: PMID: 16185324 reports an association between polymorphisms in this gene and the severity of SARS-Cov infection. Sources: Literature |
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| CAKUT v1.47 | BMP4 | Rebecca Foulger Classified gene: BMP4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.47 | BMP4 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber based on a number of papers linking BMP4 variants and renal phenotypes. Penetrance isn't complete (PMID:18305125), and phenotype is variable, even within families (PMID:30568244). However a mouse model supports a renal phenotype, and functional evidence shows expression in renal tissues. Therefore rated Amber awaiting further clinical review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.47 | BMP4 | Rebecca Foulger Gene: bmp4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.12 | ARMC9 | Catherine Snow Classified gene: ARMC9 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.12 | ARMC9 | Catherine Snow Added comment: Comment on list classification: ARMC9 appeared on the renal ciliopathies as it was imported from the Rare multisystem ciliopathy disorders panel version 1.86. Review from Zornitza Stark and also OMIM stating that ARMC9 has no hepatic or renal involvement. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.12 | ARMC9 | Catherine Snow Gene: armc9 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.46 | BMP4 | Rebecca Foulger Added comment: Comment on phenotypes: Not currently associated with a renal phenotype in OMIM or Gene2Phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.46 | BMP4 | Rebecca Foulger Phenotypes for gene: BMP4 were changed from to CAKUT; renal maldevelopment; congenital renal dysplasia; Congenital Anomaly of the Kidneys and Urinary Tract | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.45 | BMP4 | Rebecca Foulger Publications for gene: BMP4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.44 | BMP4 | Rebecca Foulger Mode of inheritance for gene: BMP4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.23 | CCL5 |
Ellen McDonagh gene: CCL5 was added gene: CCL5 was added to Viral susceptibility. Sources: Literature Mode of inheritance for gene: CCL5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CCL5 were set to 17540042 Phenotypes for gene: CCL5 were set to Susceptibility to Severe Acute Respiratory Syndrome Coronavirus Infection; Susceptibility to SARS-CoV Added comment: PMID: 17540042 case-control study reporting an associated with a polymorphism in the CCL5 gene and admission to intensive care units or death due to SARS infection. Sources: Literature |
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| CAKUT v1.43 | BMP4 | Rebecca Foulger commented on gene: BMP4: Additional mouse model in PMID:18233958 where mutant mice result in uropathies resembling human CAKUT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.43 | BMP4 | Rebecca Foulger commented on gene: BMP4: PMID:30568244 (Nixon et al., 2019) investigate a BMP4 variant ( c. 130G>T, p.(Gly44Ter) with segregated in a family with Stickler syndrome. One male (age 20) also had congenital renal dysplasia. No other family members reported kidney disease. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.22 | CD14 |
Ellen McDonagh gene: CD14 was added gene: CD14 was added to Viral susceptibility. Sources: Literature Mode of inheritance for gene: CD14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CD14 were set to 17913858 Phenotypes for gene: CD14 were set to Susceptibility to Severe Acute Respiratory Syndrome Coronavirus Infection; Susceptibility to SARS-CoV Added comment: PMID: case-control study reporting association with a risk genotype of a polymorphism in this gene and severe SARS-CoV infection. Sources: Literature |
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| Renal ciliopathies v1.11 | ADAMTS9 | Catherine Snow Classified gene: ADAMTS9 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.11 | ADAMTS9 |
Catherine Snow Added comment: Comment on list classification: Choi et al (PMID: 30609407) identified two unrelated individuals with ADAMTS9 variants (c.4575_4576del [p.Gln1525Hisfs∗60] and c.194C>G [p.Thr65Arg]) that appear to cause a Nephronophthisis-related ciliopathies (NPHP-RC) The study also included functional work and knockdown of adamts9 in zebrafish recapitulated the NPHP-RC phenotypes. Rating as Amber as only two individuals, where some clinical features differed between the two cases and although functional evidence present it is currently limited to this publication. |
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| Renal ciliopathies v1.11 | ADAMTS9 | Catherine Snow Gene: adamts9 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.21 | G6PD | Ellen McDonagh Publications for gene: G6PD were set to 26694452 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.20 | ACE |
Ellen McDonagh gene: ACE was added gene: ACE was added to Viral susceptibility. Sources: Literature Mode of inheritance for gene: ACE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ACE were set to 15819995 Phenotypes for gene: ACE were set to Not associated with susceptibility to SARS-coronavirus infection and disease outcomes Added comment: PMID: A case-control study found no association with the I/D polymorphism in this gene and increased susceptibility to SARS-coronavirus infection nor with poor outcomes after SARS-coronavirus infection (140 genetically unrelated Chinese SARS cases and 326 healthy volunteers were recruited). Sources: Literature |
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| Proteinuric renal disease v2.16 | AMN | Eleanor Williams Classified gene: AMN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.16 | AMN | Eleanor Williams Added comment: Comment on list classification: Changing rating from amber to green following expert review stating that proteinuria is a well known presenting feature of IMERSLUND-GRASBECK SYNDROME. At least 3 cases with variants in AMN and proteinuria are reported in the literature. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.16 | AMN | Eleanor Williams Gene: amn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.15 | AMN |
Eleanor Williams commented on gene: AMN: Associated with Megaloblastic anemia-1, Norwegian type #261100 (AR) in OMIM which is also known as IMERSLUND-GRASBECK SYNDROME (IGS). PMID: 30691194 - Pacitto et al 2019 - describe a case of IGS with urinary tract infection and mild but persistent proteinuria at onset in an 11-month-old female child. The patient was found to be compound heterzygous for a novel intronic variant c.513+5G>A thought to affect a donor splice site, and the known pathogenetic variant c.1006+34_1007-31del. Parents each had one of the variants. PMID: 26040326 - Montgomery et al 2015 - 2 half sisters with IGS and compound heterzygous variants in AMN are reported (c.35delA, p.Gln12Argfs*5) and (c.206 T > A, p.Met69Lys). Both presented with sub-nephrotic range proteinuria. PMID: 22631584 - Densupsoontorn et al 2012 - report a Thai boy with IGS in whom a deleterious mutation in AMN was confirmed (homozygous c.663G>A; W221X). Persistent proteinuria was reported. Note - not all patients are described as presenting with proteinuria e.g. PMID: 14593474 (Molecular cause of IGS unknown in this case). |
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| COVID-19 research v0.19 | CCL2 |
Ellen McDonagh gene: CCL2 was added gene: CCL2 was added to Viral susceptibility. Sources: Literature Mode of inheritance for gene: CCL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CCL2 were set to 25818534 Phenotypes for gene: CCL2 were set to Susceptibility to Severe Acute Respiratory Syndrome Coronavirus Infection; Susceptibility to SARS-CoV Added comment: PMID: 25818534 reports that the CCL2 G-2518A and MBL codon 54 variants have a significantly cumulative effect on increased risk of SARS-CoV infection. Sources: Literature |
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| COVID-19 research v0.18 | G6PD |
Ellen McDonagh gene: G6PD was added gene: G6PD was added to Viral susceptibility. Sources: Literature Mode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: G6PD were set to 26694452 Phenotypes for gene: G6PD were set to Susceptible to viral infection Added comment: PMID: 26694452 - a study that investigated the underlying mehanism of why glucose-6-phosphate dehydrogenase (G6PD)-deficient cells are highly susceptible to viral infection. Sources: Literature |
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| CAKUT v1.43 | BMP4 |
Rebecca Foulger changed review comment from: PMID:18305125 (Weber et al., 2008) report 3 BMP4 variants in 5 unrelated Renal hypodysplasia (RH) patients (Ser91Cys, heterozygous in patients 6 and 7; Thr116Ser, heterozygous in patient 8; Asn150Lys, heterozygous in patient 9 and homozygous in patient 10). Patients were from Poland, Germany and Turkey. The father of patient 7 also had the variant but had normal renal ultrasound. The inheritance may be polygenic: the authors show expression of BMP4 in human renal tissue. PMID:19685083 (Tabatabaeifar et al., 2009) report functional evidence for these three missense mutations, and provide in vitro functional evidence in human cell lines that BMP4 mRNA is reduced in the mutants. ; to: PMID:18305125 (Weber et al., 2008) report 3 BMP4 variants in 5 unrelated CAKUT patients (Ser91Cys, heterozygous in patients 6 and 7; Thr116Ser, heterozygous in patient 8; Asn150Lys, heterozygous in patient 9 and homozygous in patient 10). Patients were from Poland, Germany and Turkey. All five affected patients presented with a spectrum of renal maldevelopment, ranging from kidney agenesis to hypoplasia and dysplasia (with or without cysts). The father of patient 7 also had the variant but had normal renal ultrasound. The inheritance may be polygenic: the authors show expression of BMP4 in human renal tissue. PMID:19685083 (Tabatabaeifar et al., 2009) report functional evidence for these three missense mutations, and provide in vitro functional evidence in human cell lines that BMP4 mRNA is reduced in the mutants. |
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| CAKUT v1.43 | BMP4 | Rebecca Foulger changed review comment from: PMID:18305125 (Weber et al., 2008) report 3 BMP4 variants in 5 unrelated Renal hypodysplasia (RH) patients (Ser91Cys, heterozygous in patients 6 and 7; Thr116Ser, heterozygous in patient 8; Asn150Lys, heterozygous in patient 9 and homozygous in patient 10). Patients were from Poland, Germany and Turkey. The father of patient 7 also had the variant but had normal renal ultrasound. The inheritance may be polygenic. the authors show expresson of BMP4 in human renal tissue.; to: PMID:18305125 (Weber et al., 2008) report 3 BMP4 variants in 5 unrelated Renal hypodysplasia (RH) patients (Ser91Cys, heterozygous in patients 6 and 7; Thr116Ser, heterozygous in patient 8; Asn150Lys, heterozygous in patient 9 and homozygous in patient 10). Patients were from Poland, Germany and Turkey. The father of patient 7 also had the variant but had normal renal ultrasound. The inheritance may be polygenic: the authors show expression of BMP4 in human renal tissue. PMID:19685083 (Tabatabaeifar et al., 2009) report functional evidence for these three missense mutations, and provide in vitro functional evidence in human cell lines that BMP4 mRNA is reduced in the mutants. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.43 | BMP4 | Rebecca Foulger commented on gene: BMP4: PMID:18305125 (Weber et al., 2008) report 3 BMP4 variants in 5 unrelated Renal hypodysplasia (RH) patients (Ser91Cys, heterozygous in patients 6 and 7; Thr116Ser, heterozygous in patient 8; Asn150Lys, heterozygous in patient 9 and homozygous in patient 10). Patients were from Poland, Germany and Turkey. The father of patient 7 also had the variant but had normal renal ultrasound. The inheritance may be polygenic. the authors show expresson of BMP4 in human renal tissue. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.13 | VPS33B | Eleanor Williams Classified gene: VPS33B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.13 | VPS33B | Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green. Sufficient cases and Renal tubular acidosis and Renal Fanconi syndrome are a feature of this syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.13 | VPS33B | Eleanor Williams Gene: vps33b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.12 | VPS33B |
Eleanor Williams gene: VPS33B was added gene: VPS33B was added to Renal tubulopathies. Sources: Literature Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS33B were set to 8151641; 16155421; 16896922 Phenotypes for gene: VPS33B were set to Arthrogryposis, renal dysfunction, and cholestasis 1 #208085 Review for gene: VPS33B was set to GREEN Added comment: Associated with Arthrogryposis, renal dysfunction, and cholestasis 1 #208085 (AR) in OMIM. Many reported cases listed in OMIM. Renal tubular acidosis and Renal Fanconi syndrome are listed as clinical features. VIPAS39 & VPS33B form a complex. Sources: Literature |
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| CAKUT v1.43 | BMP4 | Rebecca Foulger commented on gene: BMP4: PMID:23641053 (Kaku et al., 2013). Indirect Animal study. Authors studied renal expression and phenotype of Isl1 in mice. Lack of Isl1 reduced the expression of mouse Bmp4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.43 | BMP4 | Rebecca Foulger commented on gene: BMP4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.11 | VIPAS39 | Eleanor Williams Classified gene: VIPAS39 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.11 | VIPAS39 | Eleanor Williams Added comment: Comment on list classification: Sufficient cases (>3) reported in PMID:20190753 with patients with different ethnicities, several variants are reported and functional studies support the phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.11 | VIPAS39 | Eleanor Williams Gene: vipas39 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.10 | VIPAS39 |
Eleanor Williams gene: VIPAS39 was added gene: VIPAS39 was added to Renal tubulopathies. Sources: Expert Review Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VIPAS39 were set to 20190753 Phenotypes for gene: VIPAS39 were set to Arthrogryposis, renal dysfunction, and cholestasis 2 #613404 Review for gene: VIPAS39 was set to GREEN Added comment: Reviewed by Zornitza Stark on the Unexplained kidney failure in young people panel (panel 156) where she notes that it is a syndromic disorder with a prominent renal phenotype renal tubular acidosis and Fanconi syndrome. Australian Genomics have this gene green on their renal tubulopathies panel. Sources: Expert Review |
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| Ataxia and cerebellar anomalies - childhood onset v2.6 | SCN8A | Sarah Leigh Mode of inheritance for gene: SCN8A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - childhood onset v2.5 | SCN8A | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - childhood onset v2.5 | SCN8A | Sarah Leigh Added comment: Comment on mode of inheritance: Based on report in PMID 31625145, reporting biallelic loss of function SCN8A variants in three cases in two families with severe developmental and epileptic encephalopathy. This differs from the previosly reported gain of function, monoallelic variants (PMID 24194747;22365152). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - childhood onset v2.5 | SCN8A | Sarah Leigh Mode of inheritance for gene: SCN8A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.10 | IFT140 | Catherine Snow Classified gene: IFT140 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.10 | IFT140 | Catherine Snow Added comment: Comment on list classification: Sufficient publications and external expert review an association of IFT140 variants and ciliopathic renal phenotype to rate IFT140 as Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.10 | IFT140 | Catherine Snow Gene: ift140 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.10 | IFT140 | Catherine Snow Classified gene: IFT140 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.10 | IFT140 | Catherine Snow Added comment: Comment on list classification: Sufficient publications and external expert review an association of IFT140 variants and ciliopathic renal phenotype to rate IFT140 as Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.10 | IFT140 | Catherine Snow Gene: ift140 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.9 | SLC41A1 | Catherine Snow Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.9 | SLC41A1 | Catherine Snow Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.9 | IFT172 | Catherine Snow Classified gene: IFT172 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.9 | IFT172 |
Catherine Snow Added comment: Comment on list classification: A number of publications identify relationship of variants in IFT172 and phenotypes associated with Bardet-Biedl syndrome and Jeune and Mainzer-Saldino Syndromes, all are ciliopathy diseases. The range of phenotypes can result in serve skeletal and multiple affected organs but also includes a reported case of non-syndromic retinal dystrophy. Sufficient numbers of unrelated individuals reported to have kidney dysfunction to include IFT172 as Green on the panel. |
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| Renal ciliopathies v1.9 | IFT172 | Catherine Snow Gene: ift172 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.8 | IFT172 | Catherine Snow Publications for gene: IFT172 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.24 | RNF13 | Sarah Leigh Classified gene: RNF13 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.24 | RNF13 | Sarah Leigh Gene: rnf13 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.23 | RNF13 |
Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 2 variants reported in 3 unrelated cases, together with supportive functional studies.; to: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 2 variants reported in 3 unrelated cases, together with supportive functional studies. Gain-of-function mechanism has been reported, therefore the mutational spectrum may be limited and is still to be determined through further cases or further functional studies (view of Helen Britain, GeL Clincial Fellow). |
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| Early onset or syndromic epilepsy v2.26 | RNF13 | Sarah Leigh Classified gene: RNF13 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.26 | RNF13 | Sarah Leigh Gene: rnf13 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.25 | RNF13 | Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 2 variants reported in 3 unrelated cases, together with supportive functional studies.; to: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 2 variants reported in 3 unrelated cases, together with supportive functional studies. Gain-of-function mechanism has been reported, therefore the mutational spectrum may be limited and is still to be determined through further cases or further functional studies (view of Helen Britain, GeL Clincial Fellow). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.23 | SCAMP5 | Sarah Leigh Tag watchlist tag was added to gene: SCAMP5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.23 | SCAMP5 |
Sarah Leigh changed review comment from: Comment on list classification: Not associated with phenotype in OMIM (last edited on 10/06/2014) or in Gen2Phen. Two variants have been identified in three unrelated cases (one monoallelic, one biallelic). Supportive functional studies have been reported. It would appear that the two variants reported so far in this gene result in differing mode of pathogenicity and phenotypic features. With heterozygous c.538G>T, p.Gly180Trp seeming to have a dominant-negative effect resulting in autistic spectrum disorder, intellectual disability and seizures. While homozygous c.271C>T, p.R91W seems to have a loss of function effect resulting in early onset epilepsy and Parkinson’s disease. This may be due to different functional domains of the mature protein being altered.; to: Comment on list classification: Not associated with phenotype in OMIM (last edited on 10/06/2014) or in Gen2Phen. Two variants have been identified in three unrelated cases (one monoallelic, one biallelic). Supportive functional studies have been reported. It would appear that the two variants reported so far in this gene result in differing mode of pathogenicity and phenotypic features. With heterozygous c.538G>T, p.Gly180Trp seeming to have a dominant-negative effect resulting in autistic spectrum disorder, intellectual disability and seizures. While homozygous c.271C>T, p.R91W seems to have a loss of function effect resulting in early onset epilepsy and Parkinson’s disease. This may be due to different functional domains of the mature protein being altered. Based on this evidence, SCAMP5 is rated as Amber, with a Watchlist tag. This status may change if further cases are reported. |
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| Early onset or syndromic epilepsy v2.25 | SCAMP5 | Sarah Leigh Tag watchlist tag was added to gene: SCAMP5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.25 | SCAMP5 |
Sarah Leigh changed review comment from: Comment on list classification: Not associated with phenotype in OMIM (last edited on 10/06/2014) or in Gen2Phen. Two variants have been identified in three unrelated cases (one monoallelic, one biallelic). Supportive functional studies have been reported. It would appear that the two variants reported so far in this gene result in differing mode of pathogenicity and phenotypic features. With heterozygous c.538G>T, p.Gly180Trp seeming to have a dominant-negative effect resulting in autistic spectrum disorder, intellectual disability and seizures. While homozygous c.271C>T, p.R91W seems to have a loss of function effect resulting in early onset epilepsy and Parkinson’s disease. This may be due to different functional domains of the mature protein being altered. ; to: Comment on list classification: Not associated with phenotype in OMIM (last edited on 10/06/2014) or in Gen2Phen. Two variants have been identified in three unrelated cases (one monoallelic, one biallelic). Supportive functional studies have been reported. It would appear that the two variants reported so far in this gene result in differing mode of pathogenicity and phenotypic features. With heterozygous c.538G>T, p.Gly180Trp seeming to have a dominant-negative effect resulting in autistic spectrum disorder, intellectual disability and seizures. While homozygous c.271C>T, p.R91W seems to have a loss of function effect resulting in early onset epilepsy and Parkinson’s disease. This may be due to different functional domains of the mature protein being altered. Based on this evidence, SCAMP5 is rated as Amber, with a Watchlist tag. This status may change if further cases are reported. |
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| Early onset or syndromic epilepsy v2.25 | PTEN | Rebecca Foulger changed review comment from: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed to demote AKT1 from Green to Red. This panel is not the appropriate test for somatic variant detection due to the coverage. R110 Segmental overgrowth disorders (panel #98) should be used where megalencephaly is present to allow detection of somatic mosaic mutations.; to: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed to demote PTEN from Green to Red. This panel is not the appropriate test for somatic variant detection due to the coverage. R110 Segmental overgrowth disorders (panel #98) should be used where megalencephaly is present to allow detection of somatic mosaic mutations. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v2.3 | TTR |
david halsall gene: TTR was added gene: TTR was added to Hyperthyroidism. Sources: Literature Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TTR were set to PMID: 31590893; 26522458 Phenotypes for gene: TTR were set to # 145680 HYPERTHYROXINEMIA, DYSTRANSTHYRETINEMIC; DTTRH Penetrance for gene: TTR were set to unknown Mode of pathogenicity for gene: TTR was set to Other Review for gene: TTR was set to GREEN Added comment: Specific gain of function sequence variants in TTE can cause method dependent factitious increases in serum free thyroxine when measured by commercial competive immunoassay methods. V30M, S77Y, I84S, V122I have been reported. These varients need to be considered separately from loss of function at the locus which is associated with an amyloidogenic phenotype (familial transthyretin amyloidosis). Sources: Literature |
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| Retinal disorders v2.8 | ABCC6 | Gavin Arno reviewed gene: ABCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: PSEUDOXANTHOMA ELASTICUM (PXE); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.4 | AIFM1 | Zornitza Stark edited their review of gene: AIFM1: Changed publications: 22019070, 26173962, 25583628 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.4 | AIFM1 | Zornitza Stark reviewed gene: AIFM1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.4 | ABCA1 | Zornitza Stark reviewed gene: ABCA1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Tangier disease, MIM# 205400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v1.4 | COL6A3 | Zornitza Stark reviewed gene: COL6A3: Rating: AMBER; Mode of pathogenicity: None; Publications: 26004199, 32037012, 26872670; Phenotypes: Dystonia 27, MIM#616411; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v2.4 | CHD7 | Zornitza Stark reviewed gene: CHD7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: CHARGE syndrome, MIM# 214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.17 | Ellen McDonagh Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.16 | Ellen McDonagh Panel name changed from Monogenic viral susceptibility to Viral susceptibility | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary ciliary disorders v1.22 | NEK10 |
Zerin Hyder gene: NEK10 was added gene: NEK10 was added to Primary ciliary disorders. Sources: Other Mode of inheritance for gene: NEK10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEK10 were set to 31959991 Phenotypes for gene: NEK10 were set to primary ciliary dyskinesia; bronchiectasis Penetrance for gene: NEK10 were set to unknown Review for gene: NEK10 was set to GREEN Added comment: In 9 patients from 5 unrelated consanguineous or likely consanguineous families with primary ciliary dyskinesia, Chivikula et al identified homozygous mutations in the NEK10 gene, which segregated with the disorder in all families and was confirmed by linkage analysis in 3 families. Analysis of human bronchial epithelial cells (HBECs) derived from 1 patient showed almost absent NEK10 protein expression, hypoplastic or shorter cilia, and reduced overall ciliary motion compared to controls, suggesting a loss-of-function effect. Detailed functional studies of these cells showed almost absent mucociliary transport, although cilia radial ultrastructure and beat frequency were normal. All individuals had previously unexplained bronchiectasis with CF excluded and no extrapulmonary features or situs inversus. Sources: Other |
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| Intellectual disability v3.23 | SCN8A | Sarah Leigh Added comment: Comment on mode of pathogenicity: Based on report in PMID 31625145, reporting biallelic loss of function SCN8A variants in three cases in two families with severe developmental and epileptic encephalopathy. This differs from the previosly reported gain of function monoallelic variants (PMID 24194747;22365152). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.23 | SCN8A | Sarah Leigh Mode of pathogenicity for gene: SCN8A was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.25 | SCN8A | Sarah Leigh Added comment: Comment on mode of pathogenicity: Based on report in PMID 31625145, reporting biallelic loss of function SCN8A variants in three cases in two families with severe developmental and epileptic encephalopathy. This differs from the previosly reported gain of function, monoallelic variants (PMID 24194747;22365152). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.25 | SCN8A | Sarah Leigh Mode of pathogenicity for gene: SCN8A was changed from Other to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.24 | SCN8A | Sarah Leigh Added comment: Comment on mode of pathogenicity: Based on report in PMID 31625145, reporting biallelic loss of function SCN8A variants in three cases in two families with severe developmental and epileptic encephalopathy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.24 | SCN8A | Sarah Leigh Mode of pathogenicity for gene: SCN8A was changed from None to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.7 | SCLT1 | Catherine Snow Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.7 | SCLT1 | Catherine Snow Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.7 | SCLT1 | Catherine Snow Classified gene: SCLT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.7 | SCLT1 |
Catherine Snow Added comment: Comment on list classification: PMID: 30425282 reports on individual who had compound heterozygous SCLT1 variants (c.1218 + 3insT and c.1631A > G) the patient was identified has having a form of ciliopathies that exhibits clinical features of Senior Løken syndrome. SLS is a syndromic form of retinal dystrophy associated with nephronophthisis. PMID: 24285566 - Reported on a patient with a severe ciliopathy phenotype. A homozygous splice site mutation in the SCLT1 gene was detected, Adly et al. (2014) considered the severe ciliopathy phenotype of their patients to best fit oral–facial–digital syndrome (OFD) type IX in view of the prominent eye involvement no kidney involvement reported PMID: 32055034 report on SCLT1 related to Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadisma though clinical details on the individual are not provided PMID: 28486600 - Li et al 2017 - report a mouse model with mutated Sclt1 gene. The Sclt1-/- mice exhibit typical ciliopathy phenotypes, including cystic kidney, cleft palate and polydactyly. Rating gene as Amber as evidence of renal cillopathy phenotype is still limited. |
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| Renal ciliopathies v1.7 | SCLT1 | Catherine Snow Gene: sclt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.6 | SCLT1 | Catherine Snow Classified gene: SCLT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.6 | SCLT1 |
Catherine Snow Added comment: Comment on list classification: PMID: 30425282 reports on individual who had compound heterozygous SCLT1 variants (c.1218 + 3insT and c.1631A > G) the patient was identified has having a form of ciliopathies that exhibits clinical features of Senior Løken syndrome. SLS is a syndromic form of retinal dystrophy associated with nephronophthisis. PMID: 24285566 - Reported on a patient with a severe ciliopathy phenotype. A homozygous splice site mutation in the SCLT1 gene was detected, Adly et al. (2014) considered the severe ciliopathy phenotype of their patients to best fit oral–facial–digital syndrome (OFD) type IX in view of the prominent eye involvement no kidney involvement reported PMID: 32055034 report on SCLT1 related to Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadisma though clinical details on the individual are not provided PMID: 28486600 - Li et al 2017 - report a mouse model with mutated Sclt1 gene. The Sclt1-/- mice exhibit typical ciliopathy phenotypes, including cystic kidney, cleft palate and polydactyly. Rating gene as Amber as evidence of renal cillopathy phenotype is still limited. |
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| Renal ciliopathies v1.6 | SCLT1 | Catherine Snow Gene: sclt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.6 | SCLT1 | Catherine Snow Classified gene: SCLT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.6 | SCLT1 |
Catherine Snow Added comment: Comment on list classification: PMID: 30425282 reports on individual who had compound heterozygous SCLT1 variants (c.1218 + 3insT and c.1631A > G) the patient was identified has having a form of ciliopathies that exhibits clinical features of Senior Løken syndrome. SLS is a syndromic form of retinal dystrophy associated with nephronophthisis. PMID: 24285566 - Reported on a patient with a severe ciliopathy phenotype. A homozygous splice site mutation in the SCLT1 gene was detected, Adly et al. (2014) considered the severe ciliopathy phenotype of their patients to best fit oral–facial–digital syndrome (OFD) type IX in view of the prominent eye involvement no kidney involvement reported PMID: 32055034 report on SCLT1 related to Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadisma though clinical details on the individual are not provided PMID: 28486600 - Li et al 2017 - report a mouse model with mutated Sclt1 gene. The Sclt1-/- mice exhibit typical ciliopathy phenotypes, including cystic kidney, cleft palate and polydactyly. Rating gene as Amber as evidence of renal cillopathy phenotype is still limited |
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| Renal ciliopathies v1.6 | SCLT1 | Catherine Snow Gene: sclt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.23 | SCN8A | Sarah Leigh Added comment: Comment on mode of inheritance: Based on report in PMID 31625145, reporting biallelic loss of function SCN8A variants in three cases in two families with severe developmental and epileptic encephalopathy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.23 | SCN8A | Sarah Leigh Mode of inheritance for gene: SCN8A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.22 | SCN8A | Sarah Leigh Added comment: Comment on mode of inheritance: Based on report in PMID 31625145, reporting biallelic loss of function SCN8A variants in three cases in two families with severe developmental and epileptic encephalopathy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.22 | SCN8A | Sarah Leigh Mode of inheritance for gene: SCN8A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.21 | SCN8A | Sarah Leigh Phenotypes for gene: SCN8A were changed from Cognitive impairment with or without cerebellar ataxia, 614306Epileptic encephalopathy, early infantile, 13, 614558; COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA to ?Cognitive impairment with or without cerebellar ataxia,614306; Epileptic encephalopathy, early infantile,614558; Seizures, benign familial infantile,617080 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.22 | SCN8A | Sarah Leigh Phenotypes for gene: SCN8A were changed from Cognitive impairment with or without cerebellar ataxia; Intellectual disability; Epileptic encephalopathy, early infantile, 13 to ?Cognitive impairment with or without cerebellar ataxia,614306; Epileptic encephalopathy, early infantile,614558; Seizures, benign familial infantile,617080 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.20 | SCN8A | Sarah Leigh Publications for gene: SCN8A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.21 | SCN8A | Sarah Leigh Publications for gene: SCN8A were set to Trudeau et al (2004) J Med Genet 43: 527_530; O'Brien and Meisler (2013) Frontiers in Genet 4(213): 1-9; Veeramah et al (2012) Am J Hum Genet 90: 502_510 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v1.7 | NLRP3 | Rebecca Foulger Classified gene: NLRP3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v1.7 | NLRP3 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Green. NLRP3 was added to panel and rated Green by Zornitza Stark. Not yet in G2P but sufficient cases to support gene:disease association for NLRP3:Muckle-Wells syndrome, and approx 25-30% of MWS cases have an AA amyloidosis phenotype. Cases of NRLP3 variants in amyloidosis patients reported in PMIDs 30431487, 11992256. In summary: sufficient evidence to support association with MWS, and 25-30% of MWS patients have amyloidosis. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v1.7 | NLRP3 | Rebecca Foulger Gene: nlrp3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v1.6 | NLRP3 | Rebecca Foulger commented on gene: NLRP3: PMID:11992256 (Dode et al., 2002) identify NLRP3 (CIAS1) variants in 9 unrelated families with MWS. AA amyloidosis is recorded amongst the phenotypes in family 1 (R260W variant). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v1.6 | NLRP3 | Rebecca Foulger commented on gene: NLRP3: PMID:30431487 (Pandiarajan et al., 2018) report a 10-yr old child with nephrotic syndrome. The patient had a NLRP3 variant (c.1055C>T, p.Ala352Val) and features including AA amyloidosis. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v1.6 | NLRP3 | Rebecca Foulger commented on gene: NLRP3: PMID:31057541 (Fingerhutová et al. 2019) report 1 family (11 individuals) with MWS and a p.Ala441Val variant in NLRP3. 2 patients aged over 50 years suffered with hearing loss and AA amyloidosis. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v1.6 | NLRP3 | Rebecca Foulger commented on gene: NLRP3: PMID:27435956 (Villalba et al., 2016) report a 5-year old MWS patient with T348M variant in NLRP3. They report that amyloidosis and hearing loss is seen in ~25% of patients. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v1.6 | NLRP3 | Rebecca Foulger commented on gene: NLRP3: PMID:28229991 (Hu et al., 2017) report a patient with periodic fever, arthralgia and skin lesions and an A92T variant in NLRP3 (p.D31V). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v1.6 | NLRP3 | Rebecca Foulger commented on gene: NLRP3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v1.6 | NLRP3 | Rebecca Foulger Phenotypes for gene: NLRP3 were changed from Muckle-Wells syndrome, 191900 to Muckle-Wells syndrome, 191900; AA amyloidosis; renal amyloidosis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v1.5 | NLRP3 | Rebecca Foulger Publications for gene: NLRP3 were set to 11687797; 28229991; 27435956; 31057541 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.9 | SLC26A1 | Eleanor Williams Publications for gene: SLC26A1 were set to 27210743; 20160351; 30383413; 27125215 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.8 | SLC26A1 | Eleanor Williams Publications for gene: SLC26A1 were set to 27210743; 27210743; 20160351; 30383413; 27125215 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.7 | SLC26A1 | Eleanor Williams Publications for gene: SLC26A1 were set to 27210743; 27210743; 20160351 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.6 | SLC26A1 | Eleanor Williams Classified gene: SLC26A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.6 | SLC26A1 | Eleanor Williams Added comment: Comment on list classification: Changing rating from grey to amber. Although there are several reported cases there is also evidence that the reported variants are not causative. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.6 | SLC26A1 | Eleanor Williams Gene: slc26a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.5 | SLC26A1 | Eleanor Williams Classified gene: SLC26A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.5 | SLC26A1 | Eleanor Williams Added comment: Comment on list classification: Changing rating from grey to amber. Although there are several reported cases there is also evidence that the reported variants are not causative. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.5 | SLC26A1 | Eleanor Williams Gene: slc26a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.4 | SLC26A1 |
Eleanor Williams changed review comment from: Provisionally associated with ?Nephrolithiasis, calcium oxalate #167030 (AR) in OMIM. PMID: 30383413 - Whittamore et al 2019 - were unable to were unable to reproduce the hyperoxaluria, hyperoxalemia, and urolithiasis of the original SAT-1-KO mouse model. PMID: 27125215 - Wu et al 2016 - report that Human SLC26A1-mediated anion exchange differs from that of its rodent orthologs. Also using Xenopus oocytes they find that the C41W, A56T (also reported by Gee et al) variants found in a Mexican child with recessive proximal tubular Fanconi Syndrome and the Q566R and M132T variants from Dawson et al 2013 did not alter the functional properties tested of SLC26A1 and so the proposal that these are pathogenic variants for Renal Fanconi Syndrome disease or nephrolithiasis is NOT supported. PMID: 27210743 - Gee et al 2016 - report 2 unrelated individuals. Case 1 - individual of Macedonian descent (A3054-21) who is from non-consanguineous parents and clinically presented with acute renal failure due to bilateral obstructive calculi, nephrocalcinosis, and bilateral ureteropelvic junction obstruction. Two compound heterozygous missense mutations (c.554C>T, p.Thr185Met and c.1073C>T, p.Ser358Leu) in SLC26A1 are reported. They have minor allele freq below 0.0006 in dbSNP. Case 2 - European-American boy (B641-12) who had nephrolithiasis and was born to consanguineous parents. A homozygous missense mutation (c.166G>A, p.Ala56Thr) in SLC26A1 was found. Its minor allele frequency is 0.0002 in dbSNP. PMID: 24250268 - Dawson et al 2013 - screened the SLC26A1 gene in a cohort of 13 individuals with recurrent calcium oxalate urolithiasis. Found one individual was heterozygous R372H; 4 individuals were heterozygous Q556R; one patient was homozygous Q556R; and one patient with severe nephrocalcinosis (requiring nephrectomy) was homozygous Q556R and heterozygous M132T. The Q556R variant is found at a high allele frequency (0.3484 in NCBI). PMID: 20160351 - Dawson et al 2010 - Sat1-/- mice (SLC26A1) exhibited hyperoxaluria with hyperoxalemia, nephrocalcinosis, and calcium oxalate stones in their renal tubules and bladder. Summary: Although there are 3+ cases (2 biallelic in Gee et al, 3 monalleleic and 2 biallelic in Dawson et al 2013), plus a mouse model (Dawson et all 2010), the high minor allele frequency of the Q556R variant and the lack of altered function in protein with the A56T and M132T variants (Wu et al), and the lack of reproducibility of the mouse model phenotype cast doubt on the causative role of these variants. Therefore this gene should be rated amber until more evidence for their role in nephrocalcinosis can be established.; to: Provisionally associated with ?Nephrolithiasis, calcium oxalate #167030 (AR) in OMIM. PMID: 30383413 - Whittamore et al 2019 - were unable to reproduce the hyperoxaluria, hyperoxalemia, and urolithiasis of the original SAT-1-KO mouse model. PMID: 27125215 - Wu et al 2016 - report that Human SLC26A1-mediated anion exchange differs from that of its rodent orthologs. Also using Xenopus oocytes they find that the C41W, A56T (also reported by Gee et al) variants found in a Mexican child with recessive proximal tubular Fanconi Syndrome and the Q566R and M132T variants from Dawson et al 2013 did not alter the functional properties tested of SLC26A1 and so the proposal that these are pathogenic variants for Renal Fanconi Syndrome disease or nephrolithiasis is NOT supported. PMID: 27210743 - Gee et al 2016 - report 2 unrelated individuals. Case 1 - individual of Macedonian descent (A3054-21) who is from non-consanguineous parents and clinically presented with acute renal failure due to bilateral obstructive calculi, nephrocalcinosis, and bilateral ureteropelvic junction obstruction. Two compound heterozygous missense mutations (c.554C>T, p.Thr185Met and c.1073C>T, p.Ser358Leu) in SLC26A1 are reported. They have minor allele freq below 0.0006 in dbSNP. Case 2 - European-American boy (B641-12) who had nephrolithiasis and was born to consanguineous parents. A homozygous missense mutation (c.166G>A, p.Ala56Thr) in SLC26A1 was found. Its minor allele frequency is 0.0002 in dbSNP. PMID: 24250268 - Dawson et al 2013 - screened the SLC26A1 gene in a cohort of 13 individuals with recurrent calcium oxalate urolithiasis. Found one individual was heterozygous R372H; 4 individuals were heterozygous Q556R; one patient was homozygous Q556R; and one patient with severe nephrocalcinosis (requiring nephrectomy) was homozygous Q556R and heterozygous M132T. The Q556R variant is found at a high allele frequency (0.3484 in NCBI). PMID: 20160351 - Dawson et al 2010 - Sat1-/- mice (SLC26A1) exhibited hyperoxaluria with hyperoxalemia, nephrocalcinosis, and calcium oxalate stones in their renal tubules and bladder. Summary: Although there are 3+ cases (2 biallelic in Gee et al, 3 monalleleic and 2 biallelic in Dawson et al 2013), plus a mouse model (Dawson et all 2010), the high minor allele frequency of the Q556R variant and the lack of altered function in protein with the A56T and M132T variants (Wu et al), and the lack of reproducibility of the mouse model phenotype cast doubt on the causative role of these variants. Therefore this gene should be rated amber until more evidence for their role in nephrocalcinosis can be established. |
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| Nephrocalcinosis or nephrolithiasis v2.4 | SLC26A1 |
Eleanor Williams changed review comment from: Provisionally associated with ?Nephrolithiasis, calcium oxalate #167030 (AR) in OMIM. PMID: 27125215 - Wu et al 2016 - report that Human SLC26A1-mediated anion exchange differs from that of its rodent orthologs. Also using Xenopus oocytes they find that the C41W, A56T (also reported by Gee et al) variants found in a Mexican child with recessive proximal tubular Fanconi Syndrome and the Q566R and M132T variants from Dawson et al 2013 did not alter the functional properties tested of SLC26A1 and so the proposal that these are pathogenic variants for Renal Fanconi Syndrome disease or nephrolithiasis is NOT supported. PMID: 27210743 - Gee et al 2016 - report 2 unrelated individuals. Case 1 - individual of Macedonian descent (A3054-21) who is from non-consanguineous parents and clinically presented with acute renal failure due to bilateral obstructive calculi, nephrocalcinosis, and bilateral ureteropelvic junction obstruction. Two compound heterozygous missense mutations (c.554C>T, p.Thr185Met and c.1073C>T, p.Ser358Leu) in SLC26A1 are reported. They have minor allele freq below 0.0006 in dbSNP. Case 2 - European-American boy (B641-12) who had nephrolithiasis and was born to consanguineous parents. A homozygous missense mutation (c.166G>A, p.Ala56Thr) in SLC26A1 was found. Its minor allele frequency is 0.0002 in dbSNP. PMID: 24250268 - Dawson et al 2013 - screened the SLC26A1 gene in a cohort of 13 individuals with recurrent calcium oxalate urolithiasis. Found one individual was heterozygous R372H; 4 individuals were heterozygous Q556R; one patient was homozygous Q556R; and one patient with severe nephrocalcinosis (requiring nephrectomy) was homozygous Q556R and heterozygous M132T. The Q556R variant is found at a high allele frequency (0.3484 in NCBI). PMID: 20160351 - Dawson et al 2010 - Sat1-/- mice (SLC26A1) exhibited hyperoxaluria with hyperoxalemia, nephrocalcinosis, and calcium oxalate stones in their renal tubules and bladder. Summary: Although there are 3+ cases (2 biallelic in Gee et al, 3 monalleleic and 2 biallelic in Dawson et al 2013), plus a mouse model (Dawson et all 2010), the minor allele frequency of the Q556R variant and the lack of altered function for when protein with the A56T and M132T variants are expressed (Wu et al) cast doubt on the causative role of these variants. Therefore this gene should be rated amber until more evidence for their role in nephrocalcinosis can be established.; to: Provisionally associated with ?Nephrolithiasis, calcium oxalate #167030 (AR) in OMIM. PMID: 30383413 - Whittamore et al 2019 - were unable to were unable to reproduce the hyperoxaluria, hyperoxalemia, and urolithiasis of the original SAT-1-KO mouse model. PMID: 27125215 - Wu et al 2016 - report that Human SLC26A1-mediated anion exchange differs from that of its rodent orthologs. Also using Xenopus oocytes they find that the C41W, A56T (also reported by Gee et al) variants found in a Mexican child with recessive proximal tubular Fanconi Syndrome and the Q566R and M132T variants from Dawson et al 2013 did not alter the functional properties tested of SLC26A1 and so the proposal that these are pathogenic variants for Renal Fanconi Syndrome disease or nephrolithiasis is NOT supported. PMID: 27210743 - Gee et al 2016 - report 2 unrelated individuals. Case 1 - individual of Macedonian descent (A3054-21) who is from non-consanguineous parents and clinically presented with acute renal failure due to bilateral obstructive calculi, nephrocalcinosis, and bilateral ureteropelvic junction obstruction. Two compound heterozygous missense mutations (c.554C>T, p.Thr185Met and c.1073C>T, p.Ser358Leu) in SLC26A1 are reported. They have minor allele freq below 0.0006 in dbSNP. Case 2 - European-American boy (B641-12) who had nephrolithiasis and was born to consanguineous parents. A homozygous missense mutation (c.166G>A, p.Ala56Thr) in SLC26A1 was found. Its minor allele frequency is 0.0002 in dbSNP. PMID: 24250268 - Dawson et al 2013 - screened the SLC26A1 gene in a cohort of 13 individuals with recurrent calcium oxalate urolithiasis. Found one individual was heterozygous R372H; 4 individuals were heterozygous Q556R; one patient was homozygous Q556R; and one patient with severe nephrocalcinosis (requiring nephrectomy) was homozygous Q556R and heterozygous M132T. The Q556R variant is found at a high allele frequency (0.3484 in NCBI). PMID: 20160351 - Dawson et al 2010 - Sat1-/- mice (SLC26A1) exhibited hyperoxaluria with hyperoxalemia, nephrocalcinosis, and calcium oxalate stones in their renal tubules and bladder. Summary: Although there are 3+ cases (2 biallelic in Gee et al, 3 monalleleic and 2 biallelic in Dawson et al 2013), plus a mouse model (Dawson et all 2010), the high minor allele frequency of the Q556R variant and the lack of altered function in protein with the A56T and M132T variants (Wu et al), and the lack of reproducibility of the mouse model phenotype cast doubt on the causative role of these variants. Therefore this gene should be rated amber until more evidence for their role in nephrocalcinosis can be established. |
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| Nephrocalcinosis or nephrolithiasis v2.4 | SLC26A1 | Eleanor Williams commented on gene: SLC26A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.5 | SLC41A1 | Catherine Snow Classified gene: SLC41A1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.5 | SLC41A1 | Catherine Snow Added comment: Comment on list classification: SLC41A1 is associated with Mg2+ transport and a gene disease relationship was identified in PMID: 23661805. Since then no further cases reported and SLC41A1 has no phenotype MIM number. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.5 | SLC41A1 | Catherine Snow Gene: slc41a1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.4 | SLC41A1 | Catherine Snow Classified gene: SLC41A1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.4 | SLC41A1 | Catherine Snow Added comment: Comment on list classification: SLC41A1 is associated with Mg2+ transport and a gene disease relationship was identified in PMID: 23661805. Since then no further cases reported and SLC41A1 has no phenotype MIM number. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.4 | SLC41A1 | Catherine Snow Gene: slc41a1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.4 | SLC41A1 | Catherine Snow Classified gene: SLC41A1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.4 | SLC41A1 | Catherine Snow Added comment: Comment on list classification: SLC41A1 is associated with Mg2+ transport and a gene disease relationship was identified in PMID: 23661805. Since then no further cases reported and SLC41A1 has no phenotype MIM number. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.4 | SLC41A1 | Catherine Snow Gene: slc41a1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.4 | HNF4A | Eleanor Williams Classified gene: HNF4A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.4 | HNF4A | Eleanor Williams Added comment: Comment on list classification: Although only one variant reported in all cases, there are now 7 cases in which the R76W/R63W (depending on reference transcript used) variant has been found in patients with Fanconi renotubular syndrome and nephrocalcinosis is a feature. Fly model also supports a pathogenic role for this variant. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.4 | HNF4A | Eleanor Williams Gene: hnf4a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.3 | HNF4A |
Eleanor Williams changed review comment from: Note the same codon is reported as R76W and R63W in different paper depending on whether NM_000457 or NM_175914 is used as the reference transcript. Additional papers including those cited by Zornitza Stark: PMID: 31875549 - Marchesin et al 2019 - Fly model which shows that the R85W variant in Drosophila nephrocytes works in a dominant-negative and cytotoxic effect. Expression of dHNF4 harboring the FRTS mutation affects the catabolism of lipid droplets in nephrocytes by interfering with mitochondrial function. They also showed that the FRTS mutation caused nuclear depletion and cytosolic aggregation of a wild-type dHNF4 reporter protein. The cytosolic aggregates have a cytotoxic affect. By contrast, the expression of another known close mutation in the DNA-binding domain, R89W (that leads to MODY1 but not to FRTS; Hamilton et al., 2014), did not cause any dominant-negative or cytotoxic effects. PMID: 30005691 - Liu et al 2018 1 case of a 10-year-old girl of Chinese Han ethnicity who presented with renal Fanconi syndrome, infantile hyperinsulinemic hypoglycemia, and transient cholestasis. In addition, she presented with bilateral severe hearing loss. Renal ultrasonography showed nephrocalcinosis. Gene analysis showed a heterozygous p.R63W mutation in the HNF4A gene that is responsible for Fanconi syndrome and hyperinsulinemic hypoglycemia. (NOTE: no transcript identifier given but they refer to this as the same variant as R76W). PMID: 28693455 - Walsh et al 2917 - 1 case of mother and son with heterozygous c.187C > T; p.Arg63Trp in HNF4A and Renal Fanconi syndrome. Mother is reported to have mild nephrocalcinosis PMID: 22802087 - Stanescu et al 2012 - 1 case that presented as a newborn with diazoxide-responsive hyperinsulinism and later developed renal Fanconi syndrome, hypophosphatemic rickets, and hepatic glycogenosis. Sequencing of HNF4A (MODY1) revealed a missense, de novo mutation (p.Arg76Trp, c.226C→T), (NM_000457) which is a known disease-causing MODY1 mutation in HNF4A. Nephrocalcinosis not specifically mentioned. No nephrocalcinosis reported: PMID: 28458902 - Clemente et al 2017 - 1 patient with congenital hyperinsulinaemic hypoglycaemia, rickets with craniotabes, wrist widening, genu varum and motor impairment. non-gap metabolic acidosis with acidified urine suggestive of proximal tubular acidosis, glycosuria with generalised aminoaciduria and tubular type proteinuria. Says this patient did NOT have the same ‘atypical’ Fanconi syndrome with hypercalciuria with relative hypocalcaemia, hypermagnesaemia, nephrocalcinosis and renal impairment as the patients reported by Hamilton et al 2014. A de novo variant p.Arg63Trp, c.187C > T (reference sequence: NM_175914.4) was found. PMID: 27245055 - Improda et al 2016 - 2 infants with the p.R63W mutation HNF4A with macrosomia and atypical Fanconi syndrome, in addition to hyperinsulinaemic hypoglycaemia. No nephrocalcinosis reported but this may be due to young age. ; to: Note the same codon is reported as R76W and R63W in different paper depending on whether NM_000457 or NM_175914 is used as the reference transcript. Additional papers including those cited by Zornitza Stark: PMID: 31875549 - Marchesin et al 2019 - Fly model which shows that the R85W variant in Drosophila nephrocytes works in a dominant-negative and cytotoxic effect. Expression of dHNF4 harboring the FRTS mutation affects the catabolism of lipid droplets in nephrocytes by interfering with mitochondrial function. They also showed that the FRTS mutation caused nuclear depletion and cytosolic aggregation of a wild-type dHNF4 reporter protein. The cytosolic aggregates have a cytotoxic affect. By contrast, the expression of another known close mutation in the DNA-binding domain, R89W (that leads to MODY1 but not to FRTS; Hamilton et al., 2014), did not cause any dominant-negative or cytotoxic effects. PMID: 31949432 - Anyiam et al 2019 - described patient with Renal Fanconi syndrome and R63W mutation through 3rd pregnancy. She had a history of progressive renal insufficiency, persistent proteinuria, nephrocalcinosis, and recurrent nephrolithiasis. PMID: 30005691 - Liu et al 2018 1 case of a 10-year-old girl of Chinese Han ethnicity who presented with renal Fanconi syndrome, infantile hyperinsulinemic hypoglycemia, and transient cholestasis. In addition, she presented with bilateral severe hearing loss. Renal ultrasonography showed nephrocalcinosis. Gene analysis showed a heterozygous p.R63W mutation in the HNF4A gene that is responsible for Fanconi syndrome and hyperinsulinemic hypoglycemia. (NOTE: no transcript identifier given but they refer to this as the same variant as R76W). PMID: 28693455 - Walsh et al 2917 - 1 case of mother and son with heterozygous c.187C > T; p.Arg63Trp in HNF4A and Renal Fanconi syndrome. Mother is reported to have mild nephrocalcinosis PMID: 22802087 - Stanescu et al 2012 - 1 case that presented as a newborn with diazoxide-responsive hyperinsulinism and later developed renal Fanconi syndrome, hypophosphatemic rickets, and hepatic glycogenosis. Sequencing of HNF4A (MODY1) revealed a missense, de novo mutation (p.Arg76Trp, c.226C→T), (NM_000457) which is a known disease-causing MODY1 mutation in HNF4A. Nephrocalcinosis not specifically mentioned. No nephrocalcinosis reported: PMID: 28458902 - Clemente et al 2017 - 1 patient with congenital hyperinsulinaemic hypoglycaemia, rickets with craniotabes, wrist widening, genu varum and motor impairment. non-gap metabolic acidosis with acidified urine suggestive of proximal tubular acidosis, glycosuria with generalised aminoaciduria and tubular type proteinuria. Says this patient did NOT have the same ‘atypical’ Fanconi syndrome with hypercalciuria with relative hypocalcaemia, hypermagnesaemia, nephrocalcinosis and renal impairment as the patients reported by Hamilton et al 2014. A de novo variant p.Arg63Trp, c.187C > T (reference sequence: NM_175914.4) was found. PMID: 27245055 - Improda et al 2016 - 2 infants with the p.R63W mutation HNF4A with macrosomia and atypical Fanconi syndrome, in addition to hyperinsulinaemic hypoglycaemia. No nephrocalcinosis reported but this may be due to young age. |
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| Hereditary neuropathy v1.368 | MAP1B |
Aleš Maver gene: MAP1B was added gene: MAP1B was added to Hereditary neuropathy. Sources: Other Mode of inheritance for gene: MAP1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAP1B were set to https://n.neurology.org/content/92/15_Supplement/P3.4-037 Phenotypes for gene: MAP1B were set to Giant Axonal Neuropathy-like phenotype, polyneuropathy Penetrance for gene: MAP1B were set to unknown Review for gene: MAP1B was set to RED Added comment: A single consanguineous family with three sibs affected by giant axonal neuropathy has been reported with walking difficulty, progressive lower extremity weakness and ataxia. All affected sibs were homozygous for the c.5521A>G, p.M1841V variant in MAP1B. Two brothers homozygous for the variant were also reported to have body mass index over 40. Nerve conduction studies revealed a severe sensory motor polyneuropathy. Sources: Other |
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| Nephrocalcinosis or nephrolithiasis v2.3 | HNF4A |
Eleanor Williams changed review comment from: Summary 3 publications (Hamilton et al 2014, Lui et al 2018, Walsh et al 2017) report 6 cases of patients with R76W/R63W variants in which nephrocalcinosis is a feature. Fly model (Marchesin et al 2019) shows that the equivalent variant in Drosophila nephrocytes works in a dominant-negative and cytotoxic effect.; to: Summary 4 publications (Hamilton et al 2014, Lui et al 2018, Walsh et al 2017, Anyiam et al 2019) report 7 cases of patients with R76W/R63W variants in which nephrocalcinosis is a feature. Fly model (Marchesin et al 2019) shows that the equivalent variant in Drosophila nephrocytes works in a dominant-negative and cytotoxic effect. |
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| Nephrocalcinosis or nephrolithiasis v2.3 | HNF4A |
Eleanor Williams commented on gene: HNF4A: Summary 3 publications (Hamilton et al 2014, Lui et al 2018, Walsh et al 2017) report 6 cases of patients with R76W/R63W variants in which nephrocalcinosis is a feature. Fly model (Marchesin et al 2019) shows that the equivalent variant in Drosophila nephrocytes works in a dominant-negative and cytotoxic effect. |
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| Nephrocalcinosis or nephrolithiasis v2.3 | HNF4A |
Eleanor Williams changed review comment from: Note the same codon is reported as R76W and R63W in different paper depending on whether NM_000457 or NM_175914 is used as the reference transcript. Additional papers cited by Zornitza Stark: PMID: 31875549 - Marchesin et al 2019 - Fly model which shows that the R85W variant in Drosophila nephrocytes works in a dominant-negative and cytotoxic effect. Expression of dHNF4 harboring the FRTS mutation affects the catabolism of lipid droplets in nephrocytes by interfering with mitochondrial function. They also showed that the FRTS mutation caused nuclear depletion and cytosolic aggregation of a wild-type dHNF4 reporter protein. The cytosolic aggregates have a cytotoxic affect. By contrast, the expression of another known close mutation in the DNA-binding domain, R89W (that leads to MODY1 but not to FRTS; Hamilton et al., 2014), did not cause any dominant-negative or cytotoxic effects. PMID: 30005691 - Liu et al 2018 1 case of a 10-year-old girl of Chinese Han ethnicity who presented with renal Fanconi syndrome, infantile hyperinsulinemic hypoglycemia, and transient cholestasis. In addition, she presented with bilateral severe hearing loss. Renal ultrasonography showed nephrocalcinosis. Gene analysis showed a heterozygous p.R63W mutation in the HNF4A gene that is responsible for Fanconi syndrome and hyperinsulinemic hypoglycemia. (NOTE: This seems to be the same codon as the R76W variant as the paper refers to it as such). PMID: 22802087 - Stanescu et al 2012 - 1 case that presented as a newborn with diazoxide-responsive hyperinsulinism and later developed renal Fanconi syndrome, hypophosphatemic rickets, and hepatic glycogenosis. Sequencing of HNF4A (MODY1) revealed a missense, de novo mutation (p.Arg76Trp, c.226C→T), (NM_000457) which is a known disease-causing MODY1 mutation in HNF4A. Nephrocalcinosis not specifically mentioned. No nephrocalcinosis reported: PMID: 28458902 - Clemente et al 2017 - 1 patient with congenital hyperinsulinaemic hypoglycaemia, rickets with craniotabes, wrist widening, genu varum and motor impairment. non-gap metabolic acidosis with acidified urine suggestive of proximal tubular acidosis, glycosuria with generalised aminoaciduria and tubular type proteinuria. Says this patient did NOT have the same ‘atypical’ Fanconi syndrome with hypercalciuria with relative hypocalcaemia, hypermagnesaemia, nephrocalcinosis and renal impairment as the patients reported by Hamilton et al 2014. A de novo variant p.Arg63Trp, c.187C > T (reference sequence: NM_175914.4) was found. ; to: Note the same codon is reported as R76W and R63W in different paper depending on whether NM_000457 or NM_175914 is used as the reference transcript. Additional papers including those cited by Zornitza Stark: PMID: 31875549 - Marchesin et al 2019 - Fly model which shows that the R85W variant in Drosophila nephrocytes works in a dominant-negative and cytotoxic effect. Expression of dHNF4 harboring the FRTS mutation affects the catabolism of lipid droplets in nephrocytes by interfering with mitochondrial function. They also showed that the FRTS mutation caused nuclear depletion and cytosolic aggregation of a wild-type dHNF4 reporter protein. The cytosolic aggregates have a cytotoxic affect. By contrast, the expression of another known close mutation in the DNA-binding domain, R89W (that leads to MODY1 but not to FRTS; Hamilton et al., 2014), did not cause any dominant-negative or cytotoxic effects. PMID: 30005691 - Liu et al 2018 1 case of a 10-year-old girl of Chinese Han ethnicity who presented with renal Fanconi syndrome, infantile hyperinsulinemic hypoglycemia, and transient cholestasis. In addition, she presented with bilateral severe hearing loss. Renal ultrasonography showed nephrocalcinosis. Gene analysis showed a heterozygous p.R63W mutation in the HNF4A gene that is responsible for Fanconi syndrome and hyperinsulinemic hypoglycemia. (NOTE: no transcript identifier given but they refer to this as the same variant as R76W). PMID: 28693455 - Walsh et al 2917 - 1 case of mother and son with heterozygous c.187C > T; p.Arg63Trp in HNF4A and Renal Fanconi syndrome. Mother is reported to have mild nephrocalcinosis PMID: 22802087 - Stanescu et al 2012 - 1 case that presented as a newborn with diazoxide-responsive hyperinsulinism and later developed renal Fanconi syndrome, hypophosphatemic rickets, and hepatic glycogenosis. Sequencing of HNF4A (MODY1) revealed a missense, de novo mutation (p.Arg76Trp, c.226C→T), (NM_000457) which is a known disease-causing MODY1 mutation in HNF4A. Nephrocalcinosis not specifically mentioned. No nephrocalcinosis reported: PMID: 28458902 - Clemente et al 2017 - 1 patient with congenital hyperinsulinaemic hypoglycaemia, rickets with craniotabes, wrist widening, genu varum and motor impairment. non-gap metabolic acidosis with acidified urine suggestive of proximal tubular acidosis, glycosuria with generalised aminoaciduria and tubular type proteinuria. Says this patient did NOT have the same ‘atypical’ Fanconi syndrome with hypercalciuria with relative hypocalcaemia, hypermagnesaemia, nephrocalcinosis and renal impairment as the patients reported by Hamilton et al 2014. A de novo variant p.Arg63Trp, c.187C > T (reference sequence: NM_175914.4) was found. PMID: 27245055 - Improda et al 2016 - 2 infants with the p.R63W mutation HNF4A with macrosomia and atypical Fanconi syndrome, in addition to hyperinsulinaemic hypoglycaemia. No nephrocalcinosis reported but this may be due to young age. |
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| Nephrocalcinosis or nephrolithiasis v2.3 | HNF4A |
Eleanor Williams changed review comment from: Additional papers cited by Zornitza Stark: PMID: 31875549 - Marchesin et al 2019 - Fly model which shows that the R85W variant in Drosophila nephrocytes works in a dominant-negative and cytotoxic effect. Expression of dHNF4 harboring the FRTS mutation affects the catabolism of lipid droplets in nephrocytes by interfering with mitochondrial function. They also showed that the FRTS mutation caused nuclear depletion and cytosolic aggregation of a wild-type dHNF4 reporter protein. The cytosolic aggregates have a cytotoxic affect. By contrast, the expression of another known close mutation in the DNA-binding domain, R89W (that leads to MODY1 but not to FRTS; Hamilton et al., 2014), did not cause any dominant-negative or cytotoxic effects. PMID: 30005691 - Liu et al 2018 1 case of a 10-year-old girl of Chinese Han ethnicity who presented with renal Fanconi syndrome, infantile hyperinsulinemic hypoglycemia, and transient cholestasis. In addition, she presented with bilateral severe hearing loss. Gene analysis showed a heterozygous p.R63W mutation in the HNF4A gene that is responsible for Fanconi syndrome and hyperinsulinemic hypoglycemia. PMID: 22802087 - Stanescu et al 2012 - 1 case that presented as a newborn with diazoxide-responsive hyperinsulinism and later developed renal Fanconi syndrome, hypophosphatemic rickets, and hepatic glycogenosis. Sequencing of HNF4A (MODY1) revealed a missense, de novo mutation (p.Arg76Trp, c.226C→T) which is a known disease-causing MODY1 mutation in HNF4A. PMID: 28458902 - to be finished ; to: Note the same codon is reported as R76W and R63W in different paper depending on whether NM_000457 or NM_175914 is used as the reference transcript. Additional papers cited by Zornitza Stark: PMID: 31875549 - Marchesin et al 2019 - Fly model which shows that the R85W variant in Drosophila nephrocytes works in a dominant-negative and cytotoxic effect. Expression of dHNF4 harboring the FRTS mutation affects the catabolism of lipid droplets in nephrocytes by interfering with mitochondrial function. They also showed that the FRTS mutation caused nuclear depletion and cytosolic aggregation of a wild-type dHNF4 reporter protein. The cytosolic aggregates have a cytotoxic affect. By contrast, the expression of another known close mutation in the DNA-binding domain, R89W (that leads to MODY1 but not to FRTS; Hamilton et al., 2014), did not cause any dominant-negative or cytotoxic effects. PMID: 30005691 - Liu et al 2018 1 case of a 10-year-old girl of Chinese Han ethnicity who presented with renal Fanconi syndrome, infantile hyperinsulinemic hypoglycemia, and transient cholestasis. In addition, she presented with bilateral severe hearing loss. Renal ultrasonography showed nephrocalcinosis. Gene analysis showed a heterozygous p.R63W mutation in the HNF4A gene that is responsible for Fanconi syndrome and hyperinsulinemic hypoglycemia. (NOTE: This seems to be the same codon as the R76W variant as the paper refers to it as such). PMID: 22802087 - Stanescu et al 2012 - 1 case that presented as a newborn with diazoxide-responsive hyperinsulinism and later developed renal Fanconi syndrome, hypophosphatemic rickets, and hepatic glycogenosis. Sequencing of HNF4A (MODY1) revealed a missense, de novo mutation (p.Arg76Trp, c.226C→T), (NM_000457) which is a known disease-causing MODY1 mutation in HNF4A. Nephrocalcinosis not specifically mentioned. No nephrocalcinosis reported: PMID: 28458902 - Clemente et al 2017 - 1 patient with congenital hyperinsulinaemic hypoglycaemia, rickets with craniotabes, wrist widening, genu varum and motor impairment. non-gap metabolic acidosis with acidified urine suggestive of proximal tubular acidosis, glycosuria with generalised aminoaciduria and tubular type proteinuria. Says this patient did NOT have the same ‘atypical’ Fanconi syndrome with hypercalciuria with relative hypocalcaemia, hypermagnesaemia, nephrocalcinosis and renal impairment as the patients reported by Hamilton et al 2014. A de novo variant p.Arg63Trp, c.187C > T (reference sequence: NM_175914.4) was found. |
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| Intellectual disability v3.19 | SCAMP5 | Sarah Leigh Added comment: Comment on mode of pathogenicity: Heterozygous c.538G>T, p.Gly180Trp seeming to have a dominant-negative effect resulting in autistic spectrum disorder, intellectual disability and seizures. While homozygous c.271C>T, p.R91W seems to have a loss of function effect resulting in early onset epilepsy and Parkinson’s disease. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.19 | SCAMP5 | Sarah Leigh Mode of pathogenicity for gene: SCAMP5 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.20 | SCAMP5 | Sarah Leigh Added comment: Comment on mode of pathogenicity: Heterozygous c.538G>T, p.Gly180Trp seeming to have a dominant-negative effect resulting in autistic spectrum disorder, intellectual disability and seizures. While homozygous c.271C>T, p.R91W seems to have a loss of function effect resulting in early onset epilepsy and Parkinson’s disease. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.20 | SCAMP5 | Sarah Leigh Mode of pathogenicity for gene: SCAMP5 was changed from Other to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.18 | SCAMP5 | Sarah Leigh Classified gene: SCAMP5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.18 | SCAMP5 |
Sarah Leigh Added comment: Comment on list classification: Not associated with phenotype in OMIM (last edited on 10/06/2014) or in Gen2Phen. Two variants have been identified in three unrelated cases (one monoallelic, one biallelic). Supportive functional studies have been reported. It would appear that the two variants reported so far in this gene result in differing mode of pathogenicity and phenotypic features. With heterozygous c.538G>T, p.Gly180Trp seeming to have a dominant-negative effect resulting in autistic spectrum disorder, intellectual disability and seizures. While homozygous c.271C>T, p.R91W seems to have a loss of function effect resulting in early onset epilepsy and Parkinson’s disease. This may be due to different functional domains of the mature protein being altered. |
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| Intellectual disability v3.18 | SCAMP5 | Sarah Leigh Gene: scamp5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.19 | SCAMP5 |
Sarah Leigh changed review comment from: Comment on list classification: Not associated with phenotype in OMIM (last edited on 10/06/2014) or in Gen2Phen. Two variants have been identified in three unrelated cases (one monoallelic, one biallelic). Supportive functional studies have been reported.; to: Comment on list classification: Not associated with phenotype in OMIM (last edited on 10/06/2014) or in Gen2Phen. Two variants have been identified in three unrelated cases (one monoallelic, one biallelic). Supportive functional studies have been reported. It would appear that the two variants reported so far in this gene result in differing mode of pathogenicity and phenotypic features. With heterozygous c.538G>T, p.Gly180Trp seeming to have a dominant-negative effect resulting in autistic spectrum disorder, intellectual disability and seizures. While homozygous c.271C>T, p.R91W seems to have a loss of function effect resulting in early onset epilepsy and Parkinson’s disease. This may be due to different functional domains of the mature protein being altered. |
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| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.11 | CFB | Eleanor Williams changed review comment from: Comment on list classification: Downgrading from Green to Amber. Expert review highlights that some cases come from a gene panel screen with no segregation or additional functional data.; to: Comment on list classification: Downgrading from Green to Amber. Expert review highlights that some cases come from a gene panel screen with no segregation or additional functional data. This decision has been discussed with the Genomics England Clinical team | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.11 | CFB | Eleanor Williams Mode of pathogenicity for gene: CFB was changed from Other to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.10 | CFB | Eleanor Williams Classified gene: CFB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.10 | CFB | Eleanor Williams Added comment: Comment on list classification: Downgrading from Green to Amber. Expert review highlights that some cases come from a gene panel screen with no segregation or additional functional data. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.10 | CFB | Eleanor Williams Gene: cfb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.19 | SCAMP5 | Sarah Leigh Classified gene: SCAMP5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.19 | SCAMP5 | Sarah Leigh Gene: scamp5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.18 | SCAMP5 | Sarah Leigh commented on gene: SCAMP5: PMID 32020363 reports a homozygous variant (NM_001178111:c.271C>T, p.R91W rs747966691) in two sibs of a Chinese consanguienious family, with early onset epilepsy and Parkinson’s disease (the heterozygous parents had a normal phenotype). The p.R91W knock-in mouse showed typical early-onset epilepsy and functional studies showed dysfunction of SCAMP5 shifted the excitation/inhibition balance of the neuronal network in the brain. The patients with this variant did not show signs of autism, intellectual disability, or other growth and developmental disorders. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.18 | SCAMP5 | Sarah Leigh Classified gene: SCAMP5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.18 | SCAMP5 | Sarah Leigh Added comment: Comment on list classification: Not associated with phenotype in OMIM (last edited on 10/06/2014) or in Gen2Phen. Two variants have been identified in three unrelated cases (one monoallelic, one biallelic). Supportive functional studies have been reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.18 | SCAMP5 | Sarah Leigh Gene: scamp5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.17 | SCAMP5 | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.17 | SCAMP5 | Sarah Leigh Classified gene: SCAMP5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.17 | SCAMP5 | Sarah Leigh Added comment: Comment on list classification: Not associated with phenotype in OMIM (last edited on 10/06/2014) or in Gen2Phen. Two variants have been identified in three unrelated cases (one monoallelic, one biallelic). Supportive functional studies have been reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.17 | SCAMP5 | Sarah Leigh Gene: scamp5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.17 | SCAMP5 | Sarah Leigh Added comment: Comment on mode of inheritance: Based on the reporting of a de novo heterozygous varaiant (NM_001178111.1:c.538G>T) in two unrelated cases (PMID: 31439720) and a homozygous variant (NM_001178111:c.271C>T, rs747966691) in two members of a Chinese consanguienious family (PMID: 32020363). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.17 | SCAMP5 | Sarah Leigh Mode of inheritance for gene: SCAMP5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.16 | SCAMP5 | Sarah Leigh Added comment: Comment on mode of inheritance: Based on the reporting of a de novo heterozygous varaiant (NM_001178111.1:c.538G>T) in two unrelated cases (PMID: 31439720) and a homozygous variant (NM_001178111:c.271C>T, rs747966691) in two members of a Chinese consanguienious family (PMID: 32020363). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.16 | SCAMP5 | Sarah Leigh Mode of inheritance for gene: SCAMP5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.15 | SCAMP5 | Sarah Leigh Mode of inheritance for gene: SCAMP5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.15 | HLA-B |
Ellen McDonagh gene: HLA-B was added gene: HLA-B was added to Monogenic viral susceptibility. Sources: Literature Mode of inheritance for gene: HLA-B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HLA-B were set to 12969506 Phenotypes for gene: HLA-B were set to Susceptibility to Severe Acute Respiratory Syndrome Coronavirus Infection; Susceptibility to SARS-CoV Added comment: PMID: 12969506 - HLA-B*4601 (OR = 2.08, P = 0.04, Pc = n.s.) and HLA-B*5401 (OR = 5.44, P = 0.02, Pc = n.s.) were associated with SARS coronavirus infection. Looking at the most severe cases of infection, the severity of SARS was shown to be significantly associated with HLA-B*4601 (P = 0.0008 or Pc = 0.0279). Sources: Literature |
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| COVID-19 research v0.14 | MBL2 | Ellen McDonagh commented on gene: MBL2: PMID: 25818534 reports that the CCL2 G-2518A and MBL codon 54 variants have a significantly cumulative effect on increased risk of SARS-CoV infection. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.14 | MBL2 | Ellen McDonagh Phenotypes for gene: MBL2 were changed from Susceptibility to Severe Acute Respiratory Syndrome Coronavirus Infection to Susceptibility to Severe Acute Respiratory Syndrome Coronavirus Infection; susceptibility to SARS-CoV | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.13 | MASP2 |
Ellen McDonagh gene: MASP2 was added gene: MASP2 was added to Monogenic viral susceptibility. Sources: Literature Mode of inheritance for gene: MASP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MASP2 were set to 19405982 Phenotypes for gene: MASP2 were set to Not associated with SARS-CoV susceptibility Added comment: PMID: 19405982 find no association with SARS-CoV susceptibility. Sources: Literature |
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| COVID-19 research v0.12 | MBL2 | Ellen McDonagh commented on gene: MBL2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.16 | SCAMP5 | Sarah Leigh Publications for gene: SCAMP5 were set to 31439720; 20071347 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.14 | SCAMP5 | Sarah Leigh Publications for gene: SCAMP5 were set to 31439720; 20071347 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.12 | MBL2 |
Ellen McDonagh gene: MBL2 was added gene: MBL2 was added to Monogenic viral susceptibility. Sources: Literature Mode of inheritance for gene: MBL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MBL2 were set to 16170752; 19405982; 25818534; 16185324; 15838797 Phenotypes for gene: MBL2 were set to Susceptibility to Severe Acute Respiratory Syndrome Coronavirus Infection |
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| COVID-19 research v0.11 | IL4 |
Ellen McDonagh gene: IL4 was added gene: IL4 was added to Monogenic viral susceptibility. Sources: Literature Mode of inheritance for gene: IL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: IL4 were set to 26524966 Phenotypes for gene: IL4 were set to Pooled results for susceptibility to tuberculosis, influenza, respiratory syncytial virus, SARS-Coronavirus and pneumonia infections Added comment: PMID: 26524966 reported that the rs2070874 T allele was was significant for pooled respiratory infections (tuberculosis, influenza, respiratory syncytial virus, SARS-Coronavirus and pneumonia infections). Sources: Literature |
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| COVID-19 research v0.10 | Ellen McDonagh Panel types changed to Research | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.9 | CLDN10 | Catherine Snow Classified gene: CLDN10 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.9 | CLDN10 | Catherine Snow Added comment: Comment on list classification: Following additional review from Zornitza and review in PMID: 31671507 relating to CLDN10 and HELIX syndrome. Enough evidence to promote CLDN10 to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.9 | CLDN10 | Catherine Snow Gene: cldn10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.3 | HNF4A |
Eleanor Williams changed review comment from: Additional papers cited by Zornitza Stark: PMID: 31875549 - Marchesin et al 2019 - Fly model. Used Drosophila nephrocytes as a model for proximal tubules to study the function of HNF4A and the impact of the FRTS-associated R85W mutation. Expression of dHNF4 harboring the FRTS mutation affects the catabolism of lipid droplets in nephrocytes by interfering with mitochondrial function. They also showed that the FRTS mutation promotes the nuclear export of a wild-type reporter protein, thereby reducing transcriptional output in a dominant-negative manner and promoting the formation of cytotoxic dHNF4 aggregates in the cytosol. Review to be continued. PMID: 22802087 PMID: 30005691 PMID: 28458902; to: Additional papers cited by Zornitza Stark: PMID: 31875549 - Marchesin et al 2019 - Fly model which shows that the R85W variant in Drosophila nephrocytes works in a dominant-negative and cytotoxic effect. Expression of dHNF4 harboring the FRTS mutation affects the catabolism of lipid droplets in nephrocytes by interfering with mitochondrial function. They also showed that the FRTS mutation caused nuclear depletion and cytosolic aggregation of a wild-type dHNF4 reporter protein. The cytosolic aggregates have a cytotoxic affect. By contrast, the expression of another known close mutation in the DNA-binding domain, R89W (that leads to MODY1 but not to FRTS; Hamilton et al., 2014), did not cause any dominant-negative or cytotoxic effects. PMID: 30005691 - Liu et al 2018 1 case of a 10-year-old girl of Chinese Han ethnicity who presented with renal Fanconi syndrome, infantile hyperinsulinemic hypoglycemia, and transient cholestasis. In addition, she presented with bilateral severe hearing loss. Gene analysis showed a heterozygous p.R63W mutation in the HNF4A gene that is responsible for Fanconi syndrome and hyperinsulinemic hypoglycemia. PMID: 22802087 - Stanescu et al 2012 - 1 case that presented as a newborn with diazoxide-responsive hyperinsulinism and later developed renal Fanconi syndrome, hypophosphatemic rickets, and hepatic glycogenosis. Sequencing of HNF4A (MODY1) revealed a missense, de novo mutation (p.Arg76Trp, c.226C→T) which is a known disease-causing MODY1 mutation in HNF4A. PMID: 28458902 - to be finished |
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| Intellectual disability v3.15 | RNF13 | Sarah Leigh reviewed gene: RNF13: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.13 | RNF13 | Sarah Leigh reviewed gene: RNF13: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.15 | RNF113A | Sarah Leigh Classified gene: RNF113A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.15 | RNF113A | Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene for X-linked trichothiodystrophy. At least 3 terminating variants reported in unrelated cases. Supportive functional studies also reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.15 | RNF113A | Sarah Leigh Gene: rnf113a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.14 | RNF113A | Sarah Leigh Publications for gene: RNF113A were set to 25612912; 29144457 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.13 | RNF113A | Sarah Leigh Classified gene: RNF113A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.13 | RNF113A | Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene for X-linked trichothiodystrophy. At least 3 terminating variants reported in unrelated cases. Supportive functional studies also reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.13 | RNF113A | Sarah Leigh Gene: rnf113a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v1.4 | NLRP3 | Rebecca Foulger Phenotypes for gene: NLRP3 were changed from Muckle-Wells syndrome, 191900 to Muckle-Wells syndrome, 191900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v1.4 | NLRP3 | Rebecca Foulger Phenotypes for gene: NLRP3 were changed from Muckle-Wells syndrome to Muckle-Wells syndrome, 191900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.13 | RARS | Sarah Leigh Classified gene: RARS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.13 | RARS | Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 19 variants reported in at least 13 cases of Hypomyelinating Leukodystrophy exhibinting intellectual disability to varying degrees. Supportive functional studies were also reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.13 | RARS | Sarah Leigh Gene: rars has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.12 | RARS | Sarah Leigh Classified gene: RARS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.12 | RARS | Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 13 variants reported in at least 9 cases of Hypomyelinating Leukodystrophy exhibinting epilepsy. Supportive functional studies were also reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.12 | RARS | Sarah Leigh Gene: rars has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.12 | RARS | Sarah Leigh commented on gene: RARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.11 | RARS | Sarah Leigh commented on gene: RARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.12 | RARS | Sarah Leigh Tag new-gene-name tag was added to gene: RARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.11 | RARS | Sarah Leigh Tag new-gene-name tag was added to gene: RARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.12 | RALGAPA1 | Sarah Leigh Classified gene: RALGAPA1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.12 | RALGAPA1 | Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene for RALGAPA1-related neurodevelopmental disorder. At least 5 variants reported in at least 4 unrelated cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.12 | RALGAPA1 | Sarah Leigh Gene: ralgapa1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.11 | RALGAPA1 | Sarah Leigh Classified gene: RALGAPA1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.11 | RALGAPA1 | Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene for RALGAPA1-related neurodevelopmental disorder. At least 5 variants reported in at least 4 unrelated cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.11 | RALGAPA1 | Sarah Leigh Gene: ralgapa1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.11 | RALGAPA1 | Sarah Leigh Added comment: Comment on phenotypes: Intellectual disability;hypotonia;infantile spasms. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.11 | RALGAPA1 | Sarah Leigh Phenotypes for gene: RALGAPA1 were changed from Intellectual disability; hypotonia; infantile spasms. to Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation 618797 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.10 | RALGAPA1 | Sarah Leigh Added comment: Comment on phenotypes: Intellectual disability;hypotonia;infantile spasms | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.10 | RALGAPA1 | Sarah Leigh Phenotypes for gene: RALGAPA1 were changed from Intellectual disability; hypotonia; infantile spasms. to .Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation 618797 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.8 | CLDN10 | Catherine Snow Publications for gene: CLDN10 were set to 19307729 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.10 | PUM1 | Sarah Leigh Classified gene: PUM1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.10 | PUM1 | Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 SNVs in at least 5 unrelated cases and CNVs spanning PUM1 in 9 cases. Supportive functional studies also reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.10 | PUM1 | Sarah Leigh Gene: pum1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.9 | PUM1 | Sarah Leigh Classified gene: PUM1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.9 | PUM1 | Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 SNVs in at least 5 unrelated cases and CNVs spanning PUM1 in 9 cases. Supportive functional studies also reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.9 | PUM1 | Sarah Leigh Gene: pum1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.3 | HNF4A |
Eleanor Williams commented on gene: HNF4A: Additional papers cited by Zornitza Stark: PMID: 31875549 - Marchesin et al 2019 - Fly model. Used Drosophila nephrocytes as a model for proximal tubules to study the function of HNF4A and the impact of the FRTS-associated R85W mutation. Expression of dHNF4 harboring the FRTS mutation affects the catabolism of lipid droplets in nephrocytes by interfering with mitochondrial function. They also showed that the FRTS mutation promotes the nuclear export of a wild-type reporter protein, thereby reducing transcriptional output in a dominant-negative manner and promoting the formation of cytotoxic dHNF4 aggregates in the cytosol. Review to be continued. PMID: 22802087 PMID: 30005691 PMID: 28458902 |
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| Intellectual disability v3.9 | PUM1 | Sarah Leigh Added comment: Comment on phenotypes: Global developmental delay;Intellectual disability;Seizures;Abnormality of the face;Ataxia;Cryptorchidism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.9 | PUM1 | Sarah Leigh Phenotypes for gene: PUM1 were changed from Global developmental delay; Intellectual disability; Seizures; Abnormality of the face; Ataxia; Cryptorchidism to Spinocerebellar ataxia 47 617931 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.8 | PUM1 | Sarah Leigh Publications for gene: PUM1 were set to 29474920; 30903679; 31859446 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.8 | PUM1 | Sarah Leigh Added comment: Comment on phenotypes: Global developmental delay;Intellectual disability;Seizures;Abnormality of the face;Ataxia;Cryptorchidism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.8 | PUM1 | Sarah Leigh Phenotypes for gene: PUM1 were changed from Global developmental delay; Intellectual disability; Seizures; Abnormality of the face; Ataxia; Cryptorchidism to Spinocerebellar ataxia 47 617931 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.7 | PUM1 | Sarah Leigh Publications for gene: PUM1 were set to 29474920; 30903679; 31859446 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v1.9 | SEC61A1 | Eleanor Williams Classified gene: SEC61A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v1.9 | SEC61A1 | Eleanor Williams Added comment: Comment on list classification: Changing rating from Amber to Green. Two familial cases reported in Bolar publication plus animal model. Further case reported in Groopman. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v1.9 | SEC61A1 | Eleanor Williams Gene: sec61a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v1.8 | SEC61A1 | Eleanor Williams Publications for gene: SEC61A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v1.7 | SEC61A1 |
Eleanor Williams commented on gene: SEC61A1: PMID: 30586318 - Groopman et al 2019 - Patient CKD184 in Table S7 has a heterozygous missense variant p.I428M in SEC61A1. The genetic diagnosis was Hyperuricemic nephropathy familial juvenile 4. PMID: 27392076 Bolar et al 2016 - report on two families with ADTKD and congenital anemia accompanied by either intrauterine growth retardation or neutropenia. Exclusion of known ADTKD genes coupled with linkage analysis, whole-exome sequencing, and targeted re-sequencing identified heterozygous missense variants in SEC61A1-c.553A>G (p.Thr185Ala) and c.200T>G (p.Val67Gly). Zebrafish model re-capitulated the phenotype and could not be rescued by mRNA with the pathogenic alleles. |
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| Tubulointerstitial kidney disease v1.7 | DNAJB11 | Eleanor Williams Phenotypes for gene: DNAJB11 were changed from Polycystic kidney disease 6 with or without polycystic liver disease MIM 618061 to Polycystic kidney disease 6 with or without polycystic liver disease MIM 618061; Tubulointerstitial disease | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v1.6 | DNAJB11 | Eleanor Williams Publications for gene: DNAJB11 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v1.5 | DNAJB11 | Eleanor Williams Classified gene: DNAJB11 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v1.5 | DNAJB11 | Eleanor Williams Added comment: Comment on list classification: Changing rating from amber to green. Expert review indicates that there is sufficient phenotype overlap for this gene to be green on the Tubulointerstitial kidney disease panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v1.5 | DNAJB11 | Eleanor Williams Gene: dnajb11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v1.4 | DNAJB11 |
Eleanor Williams commented on gene: DNAJB11: Associated with Polycystic kidney disease 6 with or without polycystic liver disease #618061 (AD) in OMIM. PMID: 29706351 - Cornec-Le Gall et al 2018 - Initially identified DNAJB11 variants by WES in two families presenting with Autosomal-dominant polycystic kidney disease (ADPKD)-like features. In family 1 a missense variant (p.Pro54Arg) was found in two family members presenting with non-enlarged polycystic kidneys. In family 2 a frameshifting change (c.166_167insTT) was found; they presented with small renal and liver cysts. Five additional multigenerational families carrying DNAJB11 mutations were identified by targeted analysis. From analysis of the phenotype and functional studies from DNAJB11-null cells they conclude that DNAJB11-associated disease is a phenotypic hybrid of ADPKD and ADTKD, characterized by normal-sized cystic kidneys and progressive interstitial fibrosis resulting in late-onset ESRD. PMID: 29777155 - Allison 2018 - research highlight about the Cornec-Le Gall et al 2018 paper. |
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| Renal tubulopathies v2.7 | SLC2A2 | Catherine Snow Classified gene: SLC2A2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.7 | SLC2A2 | Catherine Snow Added comment: Comment on list classification: SLC2A2 (GLUT2) associated with Fanconi-Bickel syndrome which includes renal tubular dysfunction. Sufficient number of unrelated individuals reported to classify as Green. Identified in PMID: 32150856 as missing from the panel in 27/02/2020. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.7 | SLC2A2 | Catherine Snow Gene: slc2a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.9 | DGKE | Eleanor Williams Added comment: Comment on mode of inheritance: Changing MOI to Biallelic only. All reported cases are homozygous. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.9 | DGKE | Eleanor Williams Mode of inheritance for gene: DGKE was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.8 | CFI | Eleanor Williams Classified gene: CFI as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.8 | CFI | Eleanor Williams Added comment: Comment on list classification: Changing rating from Green to Amber. Expert review has rated this gene red. No famililal cases reported, and cases that are reported looked at candidate genes only. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.8 | CFI | Eleanor Williams Gene: cfi has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.7 | CFH | Eleanor Williams Added comment: Comment on mode of inheritance: Updating MOI to Biallelic only, after expert reviewer notes that only biallelic variants are associated with C3 glomerulopathy. They note monoalleleic defects are linked with aHUS but NOT MPGN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.7 | CFH | Eleanor Williams Mode of inheritance for gene: CFH was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.6 | CFH | Eleanor Williams Publications for gene: CFH were set to 24172683; 16612335; 24722444; 27458560 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.5 | C3 | Eleanor Williams Added comment: Comment on mode of pathogenicity: Gain of function mutations associated with familial C3G/MPGN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.5 | C3 | Eleanor Williams Mode of pathogenicity for gene: C3 was changed from Other to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.6 | SLC2A2 | Catherine Snow Publications for gene: SLC2A2 were set to 32150856; 24175243 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.5 | SLC2A2 | Catherine Snow Publications for gene: SLC2A2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | COASY | Zornitza Stark reviewed gene: COASY: Rating: GREEN; Mode of pathogenicity: None; Publications: 25778941, 24360804, 30089828, 28489334; Phenotypes: Neurodegeneration with brain iron accumulation 6 MIM#615643, Pontocerebellar hypoplasia, type 12 MIM#618266; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | NAXD | Zornitza Stark reviewed gene: NAXD: Rating: GREEN; Mode of pathogenicity: None; Publications: 30576410; Phenotypes: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | UQCRFS1 | Zornitza Stark reviewed gene: UQCRFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31883641; Phenotypes: Mitochondrial Complex III deficiency, lactic acidosis, fetal bradycardia, hypertrophic cardiomyopathy, alopecia totalis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | SPATA5 | Zornitza Stark reviewed gene: SPATA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30009132, 29343804; Phenotypes: Epilepsy, hearing loss, and mental retardation syndrome MIM#616577; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | SLC52A3 | Zornitza Stark reviewed gene: SLC52A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29053833, 29193829; Phenotypes: Brown-Vialetto-Van Laere syndrome 1, MIM#211530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | SLC52A2 | Zornitza Stark reviewed gene: SLC52A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29053833, 29193829; Phenotypes: Brown-Vialetto-Van Laere syndrome 2 MIM#614707; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | SLC39A8 | Zornitza Stark reviewed gene: SLC39A8: Rating: AMBER; Mode of pathogenicity: None; Publications: 29453449, 27995398; Phenotypes: Congenital disorder of glycosylation, type IIn, MIM#616721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | SLC25A24 | Zornitza Stark reviewed gene: SLC25A24: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100094, 29100093; Phenotypes: Fontaine progeroid syndrome, MIM#612289; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | SLC25A20 | Zornitza Stark reviewed gene: SLC25A20: Rating: GREEN; Mode of pathogenicity: None; Publications: 9399886, 31108048, 25778941; Phenotypes: Carnitine-acylcarnitine translocase deficiency MIM#212138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | SLC22A5 | Zornitza Stark reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 9916797, 25778941, 17884651, 25778941; Phenotypes: Carnitine deficiency, systemic primary MIM#212140; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | SDHAF4 | Zornitza Stark reviewed gene: SDHAF4: Rating: RED; Mode of pathogenicity: None; Publications: 24954416; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | SDHAF3 | Zornitza Stark reviewed gene: SDHAF3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | QARS | Zornitza Stark edited their review of gene: QARS: Added comment: Encodes t-RNA synthetase, over 20 individuals reported, include in mito panel in line with other t-RNA synthetases.; Changed rating: GREEN; Changed publications: 28620870, 25471517, 25432320, 25041233, 24656866, 32042906; Changed phenotypes: Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | PPOX | Zornitza Stark reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 25778941, 9811936, 12859407, 30476629; Phenotypes: Porphyria variegata MIM#176200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | POLRMT | Zornitza Stark reviewed gene: POLRMT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | PLA2G6 | Zornitza Stark reviewed gene: PLA2G6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25348461, 26001724, 26506412, 30528460, 16783378; Phenotypes: Infantile neuroaxonal dystrophy 1 MIM#256600, Neurodegeneration with brain iron accumulation 2B MIM#610217, Parkinson disease 14, autosomal recessive MIM#612953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | PITRM1 | Zornitza Stark reviewed gene: PITRM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26697887, 29764912; Phenotypes: Cerebellar atrophy, mental retardation, spinocerebellar ataxia, cognitive decline, psychosis; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | PANK2 | Zornitza Stark reviewed gene: PANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25778941, 11479594, 12510040, 28863176, 25778941; Phenotypes: HARP syndrome MIM#607236, Neurodegeneration with brain iron accumulation 1 MIM#234200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | OXCT1 | Zornitza Stark reviewed gene: OXCT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25778941, 10964512, 8751852, 23420214, 25778941; Phenotypes: Succinyl CoA:3-oxoacid CoA transferase deficiency, MIM#245050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | OXA1L | Zornitza Stark reviewed gene: OXA1L: Rating: AMBER; Mode of pathogenicity: None; Publications: 30201738, 16435202; Phenotypes: encephalopathy, hypotonia, developmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | NDUFB10 | Zornitza Stark reviewed gene: NDUFB10: Rating: AMBER; Mode of pathogenicity: None; Publications: 28040730, 32025618; Phenotypes: fatal infantile lactic acidosis, cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | NDUFAF7 | Zornitza Stark reviewed gene: NDUFAF7: Rating: RED; Mode of pathogenicity: None; Publications: 28837730; Phenotypes: Myopia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.7 | ADAMTS13 | Eleanor Williams Publications for gene: ADAMTS13 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.6 | ADAMTS13 | Eleanor Williams Classified gene: ADAMTS13 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.6 | ADAMTS13 | Eleanor Williams Gene: adamts13 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.5 | ADAMTS13 |
Eleanor Williams commented on gene: ADAMTS13: Associated with Thrombotic thrombocytopenic purpura, hereditary #274150 (AR) in OMIM. After consultation with the Genomics England clinical team it was decided to add this gene as Amber and discuss with the GMS group at the next update. ADAMTS13 may be responsible for a mimic of aHUS, that might be difficult to distinguish clinically. Therefore it is possible that inclusion in a differential diagnosis capacity is relevant. |
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| Atypical haemolytic uraemic syndrome v2.5 | ADAMTS13 | Eleanor Williams changed review comment from: Consulting with the Genomics England clinical team as to whether to add this gene to the panel.; to: Consulting with the Genomics England clinical team as to whether to add this gene to the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.5 | CFHR5 | Eleanor Williams Classified gene: CFHR5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.5 | CFHR5 | Eleanor Williams Added comment: Comment on list classification: Changing rating from grey to amber. Some evidence to suggest that variants in CFHR5 may be associated with aHUS but there are not 3 clear cases with variants only found in that gene and segregation data, or functional data | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.5 | CFHR5 | Eleanor Williams Gene: cfhr5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.4 | CFHR5 | Eleanor Williams Publications for gene: CFHR5 were set to 22622361 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.15 | DGKE | Eleanor Williams Classified gene: DGKE as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.15 | DGKE | Eleanor Williams Added comment: Comment on list classification: Changing rating to green as multiple cases reported and expert review says proteinuria is a prominent feature | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.15 | DGKE | Eleanor Williams Gene: dgke has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.14 | DGKE | Eleanor Williams Mode of inheritance for gene: DGKE was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.13 | TPRKB | Eleanor Williams Classified gene: TPRKB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.13 | TPRKB | Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green, as there are 3 reported cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.13 | TPRKB | Eleanor Williams Gene: tprkb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.12 | TPRKB | Eleanor Williams Mode of inheritance for gene: TPRKB was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.11 | TPRKB | Eleanor Williams Publications for gene: TPRKB were set to 28805828 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.10 | PTPRO | Eleanor Williams Classified gene: PTPRO as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.10 | PTPRO | Eleanor Williams Added comment: Comment on list classification: Changing rating from red to amber. 2 families reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.10 | PTPRO | Eleanor Williams Gene: ptpro has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.9 | KANK2 | Eleanor Williams Classified gene: KANK2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.9 | KANK2 | Eleanor Williams Added comment: Comment on list classification: Changing rating from red to amber - 2 reported cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.9 | KANK2 | Eleanor Williams Gene: kank2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | MRM2 | Zornitza Stark reviewed gene: MRM2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28973171; Phenotypes: MELAS-like; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | MARS2 | Zornitza Stark reviewed gene: MARS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25754315; Phenotypes: Combined oxidative phosphorylation deficiency 25, OMIM #616430, Spastic ataxia 3, autosomal recessive, OMIM #611390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v2.8 | Ellen McDonagh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | LYRM4 | Zornitza Stark changed review comment from: Three individuals from two families reported.; to: Three individuals from two families reported. Amber on the other mito panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | LYRM4 | Zornitza Stark reviewed gene: LYRM4: Rating: AMBER; Mode of pathogenicity: None; Publications: 23814038, 31497476; Phenotypes: Combined oxidative phosphorylation deficiency 19, MIM# 615595; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | IDH3A | Zornitza Stark reviewed gene: IDH3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 31012789, 30478029, 30058936, 28412069; Phenotypes: Retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | GATC | Zornitza Stark reviewed gene: GATC: Rating: RED; Mode of pathogenicity: None; Publications: 30283131; Phenotypes: Mitochondrial cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | GATB | Zornitza Stark reviewed gene: GATB: Rating: RED; Mode of pathogenicity: None; Publications: 30283131; Phenotypes: Mitochondrial cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | G6PC | Zornitza Stark changed review comment from: Not a mitochondrial disorder.; to: Not a mitochondrial disorder. It is Red on the other mito panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | G6PC | Zornitza Stark reviewed gene: G6PC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease Ia, MIM# 232200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infantile enterocolitis & monogenic inflammatory bowel disease v1.16 | ADAM17 | Zornitza Stark reviewed gene: ADAM17: Rating: GREEN; Mode of pathogenicity: None; Publications: 22010916, 25804906, 21041656, 22236242; Phenotypes: Inflammatory neonatal-onset skin and bowel disease, MIM#614328; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | SSBP1 | Zornitza Stark reviewed gene: SSBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31298765, 31479473, 31550237, 31550240; Phenotypes: Optic atrophy with or without extraocular phenotypes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained kidney failure in young people v1.84 | VIPAS39 | Rebecca Foulger Classified gene: VIPAS39 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained kidney failure in young people v1.84 | VIPAS39 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green following review by Zornitza Stark, and curation of PMID:20190753. Sufficient (>3) cases of ARC being caused by VIPAS39 variants in PMID:20190753. Although only one paper, the patients are from multiple ethnicities and functional studies support the phenotype: VIPAS39 & VPS33B form a complex, and have roles in apical junction formation. Variants in VPS33B cause 'Arthrogryposis, renal dysfunction, and cholestasis 1, MIM:208085', and VPS33B is Green on this panel. VIPAS39-ARC also has a Confirmed Disease confidence in Gene2Phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained kidney failure in young people v1.84 | VIPAS39 | Rebecca Foulger Gene: vipas39 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained kidney failure in young people v1.83 | VIPAS39 | Rebecca Foulger commented on gene: VIPAS39 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.4 | HNF4A | Catherine Snow Classified gene: HNF4A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.4 | HNF4A | Catherine Snow Added comment: Comment on list classification: HNF4A sufficient individuals who are unrelated and from different populations in the literature to classify this as Green. Variable phenotype reported although currently only one variant p.R63W. PMID 28458902 reported a patients with the variant and reviewed other published case. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.4 | HNF4A | Catherine Snow Gene: hnf4a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained kidney failure in young people v1.83 | VIPAS39 | Rebecca Foulger Publications for gene: VIPAS39 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | XPNPEP3 | Zornitza Stark reviewed gene: XPNPEP3: Rating: RED; Mode of pathogenicity: None; Publications: 20179356; Phenotypes: Nephronophthisis-like nephropathy 1, MIM#613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | UQCR11 | Zornitza Stark reviewed gene: UQCR11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | UQCR10 | Zornitza Stark reviewed gene: UQCR10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | UQCC1 | Zornitza Stark reviewed gene: UQCC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | ETFB | Zornitza Stark reviewed gene: ETFB: Rating: GREEN; Mode of pathogenicity: None; Publications: 12815589, 7912128; Phenotypes: Glutaric acidemia IIB MIM#231680, Multiple acyl-CoA dehydrogenase deficiency (MADD); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | ETFA | Zornitza Stark reviewed gene: ETFA: Rating: GREEN; Mode of pathogenicity: None; Publications: 1882842, 12815589; Phenotypes: Glutaric acidemia IIA MIM#231680, Multiple acyl-CoA dehydrogenase deficiency (MADD); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | ERAL1 | Zornitza Stark reviewed gene: ERAL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Perrault syndrome 6, MIM# 617565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | CYCS | Zornitza Stark edited their review of gene: CYCS: Added comment: At least three families have been reported with this condition. CYCS is located in the mitochondria and is involved in the electron transport system that functions in oxidative phosphorylation.; Changed publications: 18345000, 24326104, 30051457 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | COX6B2 | Zornitza Stark reviewed gene: COX6B2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | COX6A2 | Zornitza Stark reviewed gene: COX6A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31155743, 23460811; Phenotypes: Mitochondrial complex IV deficiency, MIM# 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | COX19 | Zornitza Stark reviewed gene: COX19: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | COX18 | Zornitza Stark reviewed gene: COX18: Rating: RED; Mode of pathogenicity: None; Publications: 19373256; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | COX17 | Zornitza Stark reviewed gene: COX17: Rating: RED; Mode of pathogenicity: None; Publications: 12370308; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | COX16 | Zornitza Stark reviewed gene: COX16: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | COX14 | Zornitza Stark reviewed gene: COX14: Rating: AMBER; Mode of pathogenicity: None; Publications: 22243966; Phenotypes: Mitochondrial complex IV deficiency, MIM#220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | COX11 | Zornitza Stark reviewed gene: COX11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | COQ5 | Zornitza Stark reviewed gene: COQ5: Rating: RED; Mode of pathogenicity: None; Publications: 29044765; Phenotypes: Cerebellar ataxia, encephalopathy, generalized tonic-clonic seizures, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | COA4 | Zornitza Stark reviewed gene: COA4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | COA3 | Zornitza Stark reviewed gene: COA3: Rating: RED; Mode of pathogenicity: None; Publications: 25604084; Phenotypes: Mitochondrial complex IV deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | BTD | Zornitza Stark commented on gene: BTD: Can we please review the link to mitochondrial disease? | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | ATPAF1 | Zornitza Stark reviewed gene: ATPAF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | ATP5L2 | Zornitza Stark reviewed gene: ATP5L2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | ATP5L | Zornitza Stark reviewed gene: ATP5L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | ATP5J2 | Zornitza Stark reviewed gene: ATP5J2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | ATP5H | Zornitza Stark reviewed gene: ATP5H: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | ATP5F1 | Zornitza Stark reviewed gene: ATP5F1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | ANO10 | Zornitza Stark edited their review of gene: ANO10: Added comment: I don't think this is a mitochondrial disorder. The reported CoQ10 deficiency appears to be secondary.; Changed publications: 25778941; Changed phenotypes: Spinocerebellar ataxia, autosomal recessive 10, MIM# 613728 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.7 | PIGP | Sarah Leigh Classified gene: PIGP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.7 | PIGP |
Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 2 variants reported (rs768633670, rs778481061). rs768633670 were reported as a compound heterozygotes in one case and was present in at least two geographically separated consanguineous European families; suggesting a founder effect in the European population (PMID 32042915). Supportive functional studies are also presented. |
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| Intellectual disability v3.7 | PIGP | Sarah Leigh Gene: pigp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.6 | PIGP | Sarah Leigh Classified gene: PIGP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.6 | PIGP |
Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 2 variants reported (rs768633670, rs778481061). rs768633670 were reported as a compound heterozygotes in one case and was present in at least two geographically separated consanguineous European families; suggesting a founder effect in the European population (PMID 32042915). Supportive functional studies are also presented. |
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| Early onset or syndromic epilepsy v2.6 | PIGP | Sarah Leigh Gene: pigp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.6 | PIGP | Sarah Leigh Publications for gene: PIGP were set to 28334793; 31139695; 32042915 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.5 | PIGP | Sarah Leigh Phenotypes for gene: PIGP were changed from ?Epileptic encephalopathy, early infantile, 55, 617599; Generalized hypotonia; Global developmental delay; Seizures; Intellectual disability; Feeding difficulties; Cortical visual impairment to Epileptic encephalopathy, early infantile, 55, 617599; Generalized hypotonia; Global developmental delay; Seizures; Intellectual disability; Feeding difficulties; Cortical visual impairment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.4 | PIGP | Sarah Leigh Publications for gene: PIGP were set to 28334793; 31139695; 32042915 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.4 | PIGP | Sarah Leigh Publications for gene: PIGP were set to 28334793; 31139695 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.5 | PIGP | Sarah Leigh Phenotypes for gene: PIGP were changed from ?Epileptic encephalopathy, early infantile, 55, 617599; Generalized hypotonia; Global developmental delay; Seizures; Intellectual disability; Feeding difficulties; Cortical visual impairment to Epileptic encephalopathy, early infantile, 55, 617599; Generalized hypotonia; Global developmental delay; Seizures; Intellectual disability; Feeding difficulties; Cortical visual impairment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.4 | PIGP | Sarah Leigh Publications for gene: PIGP were set to 28334793; 31139695 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.8 | CD2AP | Catherine Snow Mode of inheritance for gene: CD2AP was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.7 | CD2AP | Catherine Snow Classified gene: CD2AP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.7 | CD2AP | Catherine Snow Gene: cd2ap has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.6 | DGKE | Catherine Snow Classified gene: DGKE as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.6 | DGKE | Catherine Snow Gene: dgke has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.8 | MITF | Ellen McDonagh commented on gene: MITF: There is evidence to suggest there is reduced penetrance for this gene-disease association (PMID: 26100139). Due to feedback from Rowenna Roberts at GOSH, this gene has therefore been denoted as having incomplete pentrance. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.8 | MITF | Ellen McDonagh Publications for gene: MITF were set to 10578055; 10587587; 10760582; 10851256; 10942418; 11331755; 11929831; 11929848; 11930005; 12032083; 12086670; 12093801; 12235125; 12668617; 13985019; 15254223; 15623583; 15716956; 16001072; 16140982; 16998588; 17182868; 18316599; 18510545; 19188590; 22012259; 22080950; 26168401; 666627; 7874158; 7874167; 7874168; 8069297; 8578601; 8589691; 8659547; 8782819; 9158138; 9499424; 9500554; 9546825; 9677380; 9856573; 27889061 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.7 | MITF |
Ellen McDonagh Source Expert was removed from MITF. Penetrance for gene MITF was set from to Complete |
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| Ectodermal dysplasia v1.4 | KREMEN1 | Zornitza Stark reviewed gene: KREMEN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29526031; Phenotypes: Ectodermal dysplasia 13, hair/tooth type, 617392; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pain syndromes v1.9 | FAAH | Tomislav Kokotovic reviewed gene: FAAH: Rating: AMBER; Mode of pathogenicity: None; Publications: 30929760; Phenotypes: insensitivity to pain, increased healing; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pain syndromes v1.9 | FAAH | Tomislav Kokotovic Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pain syndromes v1.9 | FAAH |
Tomislav Kokotovic gene: FAAH was added gene: FAAH was added to Pain syndromes. Sources: Other Mode of inheritance for gene: FAAH was set to Unknown Publications for gene: FAAH were set to 30929760 Phenotypes for gene: FAAH were set to insensitivity to pain, healing Review for gene: FAAH was set to AMBER Added comment: Sources: Other |
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| Intellectual disability v3.3 | SLC5A6 | Zornitza Stark reviewed gene: SLC5A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 31754459, 27904971, 31392107; Phenotypes: Developmental delay, epilepsy, neurodegeneration; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | RARS | Zornitza Stark reviewed gene: RARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31814314; Phenotypes: Leukodystrophy, hypomyelinating, 9 (# 616140); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | CXorf56 | Zornitza Stark reviewed gene: CXorf56: Rating: GREEN; Mode of pathogenicity: None; Publications: 29374277, 31822863; Phenotypes: Mental retardation, X-linked 107, MIM# 301013; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v1.27 | KLB | Rachel Jones reviewed gene: KLB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28754744; Phenotypes: hypogonadotrophic hypogonadism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | TNR |
Zornitza Stark gene: TNR was added gene: TNR was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: TNR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNR were set to 32099069 Phenotypes for gene: TNR were set to Spastic para- or tetraparesis; Axial muscular hypotonia; Intellectual disability; Transient opisthotonus Review for gene: TNR was set to GREEN gene: TNR was marked as current diagnostic Added comment: 13 individuals from 8 unrelated families reported. Sources: Expert list |
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| Intellectual disability v3.3 | RUSC2 |
Zornitza Stark gene: RUSC2 was added gene: RUSC2 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: RUSC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RUSC2 were set to 27612186 Phenotypes for gene: RUSC2 were set to Mental retardation, autosomal recessive 61, MIM# 617773 Review for gene: RUSC2 was set to AMBER Added comment: Two unrelated families reported. Sources: Expert list |
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| Intellectual disability v3.3 | RUNX2 | Zornitza Stark reviewed gene: RUNX2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cleidocranial dysplasia, MIM# 119600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | RSRC1 |
Zornitza Stark gene: RSRC1 was added gene: RSRC1 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: RSRC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RSRC1 were set to 28640246; 29522154 Phenotypes for gene: RSRC1 were set to Intellectual developmental disorder, autosomal recessive 70, MIM# 618402 Review for gene: RSRC1 was set to AMBER Added comment: Two unrelated families reported, 8 affected individuals. Sources: Expert list |
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| Intellectual disability v3.3 | RSPO4 | Zornitza Stark reviewed gene: RSPO4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Anonychia congenita, MIM# 206800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | RSPH3 | Zornitza Stark reviewed gene: RSPH3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 32, MIM# 616481; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | RSPH1 | Zornitza Stark reviewed gene: RSPH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 24, MIM# 615481; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | RPS19 | Zornitza Stark reviewed gene: RPS19: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anemia 1, MIM#105650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | RPGRIP1 | Zornitza Stark reviewed gene: RPGRIP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cone-rod dystrophy 13, MIM# 608194, Leber congenital amaurosis 6, MIM# 613826; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | RPE65 | Zornitza Stark reviewed gene: RPE65: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leber congenital amaurosis 2, MIM# 204100, Retinitis pigmentosa 20, MIM# 613794, Retinitis pigmentosa 87 with choroidal involvement, MIM# 618697; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | ROBO3 | Zornitza Stark reviewed gene: ROBO3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Gaze palsy, familial horizontal, with progressive scoliosis, 1 607313; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | RNF13 | Zornitza Stark reviewed gene: RNF13: Rating: GREEN; Mode of pathogenicity: None; Publications: 30595371; Phenotypes: Epileptic encephalopathy, early infantile, 73, MIM# 618379; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | RIC1 |
Zornitza Stark gene: RIC1 was added gene: RIC1 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: RIC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RIC1 were set to 31932796 Phenotypes for gene: RIC1 were set to Cleft lip; cataract; tooth abnormality; intellectual disability; facial dysmorphism; ADHD Review for gene: RIC1 was set to AMBER Added comment: Zebrafish model and consanguineous families but homozygous-by-descent. One to watch. Sources: Expert list |
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| Intellectual disability v3.3 | RHEB | Zornitza Stark reviewed gene: RHEB: Rating: GREEN; Mode of pathogenicity: None; Publications: 29051493; Phenotypes: Intellectual disability, Macrocephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | RETREG1 | Zornitza Stark reviewed gene: RETREG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | MYO5B | Zornitza Stark reviewed gene: MYO5B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Microvillus inclusion disease, MIM# 251850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | MYH9 | Zornitza Stark reviewed gene: MYH9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | MYH8 | Zornitza Stark reviewed gene: MYH8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Trismus-pseudocamptodactyly syndrome, MIM# 158300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | MYH6 | Zornitza Stark reviewed gene: MYH6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Sick sinus syndrome 3} 614090 3 Atrial septal defect 3, MIM# 614089, Cardiomyopathy, dilated, 1EE, MIM# 613252, Cardiomyopathy, hypertrophic, 14, MIM# 613251; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | MTHFS | Zornitza Stark reviewed gene: MTHFS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30031689, 31844630, 22303332; Phenotypes: Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | MSX2 | Zornitza Stark reviewed gene: MSX2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniosynostosis 2, MIM# 604757, Parietal foramina 1, MIM# 168500, Parietal foramina with cleidocranial dysplasia, MIM# 168550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | MSX1 | Zornitza Stark reviewed gene: MSX1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectodermal dysplasia 3, Witkop type 189500, Orofacial cleft 5 608874, Tooth agenesis, selective, 1, with or without orofacial cleft 106600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | MPV17 | Zornitza Stark reviewed gene: MPV17: Rating: GREEN; Mode of pathogenicity: None; Publications: 22593919; Phenotypes: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), OMIM #256810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | MNX1 | Zornitza Stark reviewed gene: MNX1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Currarino syndrome, OMIM #176450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | MN1 | Zornitza Stark reviewed gene: MN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31834374, 31839203; Phenotypes: Intellectual disability, dysmophic features, rhombencephalosynapsis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | MMP13 | Zornitza Stark reviewed gene: MMP13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Metaphyseal anadysplasia 1, MIM# 602111, Metaphyseal dysplasia, Spahr type, MIM# 250400, Spondyloepimetaphyseal dysplasia, Missouri type, MIM# 602111; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | MGP | Zornitza Stark reviewed gene: MGP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Keutel syndrome, MIM# 245150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | MFSD2A | Zornitza Stark reviewed gene: MFSD2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26005865, 26005868, 24828044; Phenotypes: Microcephaly 15, primary, autosomal recessive, MIM# 616486; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | MFRP | Zornitza Stark reviewed gene: MFRP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Microphthalmia, isolated 5, MIM# 611040; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | METTL5 | Zornitza Stark reviewed gene: METTL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 29302074, 31564433; Phenotypes: Intellectual developmental disorder, autosomal recessive 72, MIM# 618665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | MESP2 | Zornitza Stark reviewed gene: MESP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondylocostal dysostosis 2, autosomal recessive, MIM# 608681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | MC2R | Zornitza Stark reviewed gene: MC2R: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM# 202200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | MATN3 | Zornitza Stark reviewed gene: MATN3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondyloepimetaphyseal dysplasia 608728, {Osteoarthritis susceptibility 2} 140600, Epiphyseal dysplasia, multiple, 5 607078; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | MAPRE2 | Zornitza Stark reviewed gene: MAPRE2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26637975; Phenotypes: Symmetric circumferential skin creases, congenital, 2, MIM# 616734; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | MAPK10 | Zornitza Stark reviewed gene: MAPK10: Rating: RED; Mode of pathogenicity: None; Publications: 23329067, 16249883; Phenotypes: Intellectual disability, seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | MAP3K1 | Zornitza Stark reviewed gene: MAP3K1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 46XY sex reversal 6, MIM# 613762; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | MAP1B | Zornitza Stark reviewed gene: MAP1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 31317654, 30150678, 30214071; Phenotypes: Intellectual disability, seizures, PVNH, dysmorphic features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | MADD | Zornitza Stark reviewed gene: MADD: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940097; Phenotypes: Intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | NUP214 |
Zornitza Stark gene: NUP214 was added gene: NUP214 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: NUP214 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP214 were set to 31178128 Phenotypes for gene: NUP214 were set to developmental delay; intellectual disability; epileptic encephalopathy; developmental regression; microcephaly Review for gene: NUP214 was set to GREEN gene: NUP214 was marked as current diagnostic Added comment: Three unrelated families reported, regression on background of pre-existing neurodisability. Sources: Expert list |
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| Intellectual disability v3.3 | NUP107 | Zornitza Stark reviewed gene: NUP107: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Galloway-Mowat syndrome 7, MIM# 618348, Nephrotic syndrome, type 11, MIM# 616730; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | NRXN2 | Zornitza Stark edited their review of gene: NRXN2: Added comment: One individual reported with autism and a paternally inherited variant in this gene, father had a language disorder. Another infant reported with severe EE and a maternally inherited variants in NRXN1 and a paternally inherited variant in NRXN2. Some animal data.; Changed publications: 21424692, 30709877, 25745399; Changed phenotypes: Autism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | NR5A1 | Zornitza Stark reviewed gene: NR5A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 46XY sex reversal 3, 612965, Premature ovarian failure 7, 612964, Adrenocortical insufficiency, Spermatogenic failure 8, 613957; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | NR2F2 | Zornitza Stark reviewed gene: NR2F2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital heart defects, multiple types, 4, MIM# 615779; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | NPR2 | Zornitza Stark reviewed gene: NPR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Acromesomelic dysplasia, Maroteaux type, MIM# 602875, Epiphyseal chondrodysplasia, Miura type MIM#615923, Short stature with nonspecific skeletal abnormalities 616255; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | NPHS1 | Zornitza Stark reviewed gene: NPHS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 1, MIM# 256300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | NPHP4 | Zornitza Stark reviewed gene: NPHP4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 4, MIM# 606966, Senior-Loken syndrome 4, MIM# 606996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | NPHP3 | Zornitza Stark reviewed gene: NPHP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18371931; Phenotypes: Meckel syndrome 7, MIM# 267010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | NOTCH2 | Zornitza Stark reviewed gene: NOTCH2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alagille syndrome 2, MIM#610205, Hajdu-Cheney syndrome, MIM#102500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | NOG | Zornitza Stark reviewed gene: NOG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Brachydactyly, type B2, MIM# 611377, Multiple synostoses syndrome 1, MIM# 186500, Stapes ankylosis with broad thumbs and toes, MIM# 184460, Symphalangism, proximal, 1A, MIM# 185800, Tarsal-carpal coalition syndrome, MIM# 186570; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | NODAL | Zornitza Stark reviewed gene: NODAL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Heterotaxy, visceral, 5, MIM# 270100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | NMNAT1 | Zornitza Stark reviewed gene: NMNAT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leber congenital amaurosis 9, MIM# 608553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | NKX3-2 | Zornitza Stark reviewed gene: NKX3-2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondylo-megaepiphyseal-metaphyseal dysplasia, MIM# 613330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | NHP2 | Zornitza Stark reviewed gene: NHP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 18523010, 31985013; Phenotypes: Dyskeratosis congenita, autosomal recessive 2, MIM# 613987, Høyeraal-Hreidarsson syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | NHEJ1 | Zornitza Stark reviewed gene: NHEJ1: Rating: RED; Mode of pathogenicity: None; Publications: 16439204; Phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | NGF | Zornitza Stark reviewed gene: NGF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type V, MIM# 608654; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | NEK1 | Zornitza Stark reviewed gene: NEK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | NEDD4L | Zornitza Stark reviewed gene: NEDD4L: Rating: GREEN; Mode of pathogenicity: None; Publications: 27694961; Phenotypes: Periventricular nodular heterotopia 7, MIM#617201; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | NDUFAF1 |
Zornitza Stark gene: NDUFAF1 was added gene: NDUFAF1 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: NDUFAF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFAF1 were set to 17557076; 21931170; 24963768 Phenotypes for gene: NDUFAF1 were set to Mitochondrial complex I deficiency, nuclear type 11, MIM#618234 Review for gene: NDUFAF1 was set to GREEN gene: NDUFAF1 was marked as current diagnostic Added comment: Three unrelated families described, DD/ID part of the phenotype, specifically mentioned in two families, child in third family died in infancy from HOCM. Sources: Expert list |
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| Cardiac arrhythmias v6.28 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypotonic infant v9.42 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders v14.44 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, childhood onset v6.21 | Eleanor Williams Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral malformation v5.18 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia and cerebellar anomalies, childhood onset v6.20 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy Super panel v4.22 | Ellen McDonagh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic renal disease v3.20 | Eleanor Williams Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sudden unexplained death or survivors of a cardiac event v9.33 | Ellen McDonagh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v5.44 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v1.3 | Ellen McDonagh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.4 | Eleanor Williams Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.4 | Eleanor Williams Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.3 | Eleanor Williams Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polycystic liver disease v1.5 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polycystic liver disease v1.4 | Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited pancreatic cancer v1.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to GIST v1.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial melanoma v1.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematuria v2.4 | Eleanor Williams Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematuria v2.3 | Eleanor Williams Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v1.7 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v1.6 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v1.5 | Catherine Snow Panel types changed to GMS Rare Disease; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological segmental overgrowth v1.5 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological segmental overgrowth v1.4 | Catherine Snow Panel types changed to GMS Rare Disease; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v2.5 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v2.4 | Catherine Snow Panel types changed to GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.5 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.4 | Catherine Snow Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric motor neuronopathies v1.31 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric motor neuronopathies v1.30 | Catherine Snow Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v1.36 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v1.34 | Catherine Snow Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.3 | Eleanor Williams Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.2 | Eleanor Williams Panel types changed to GMS Rare Disease; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.5 | Ellen McDonagh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v1.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v1.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited MMR deficiency (Lynch syndrome) v1.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v1.3 | Eleanor Williams Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial v2.20 | Ellen McDonagh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v1.2 | Eleanor Williams Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial v2.19 | Ellen McDonagh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial v2.18 | Ellen McDonagh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited ovarian cancer (without breast cancer) v2.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v1.4 | Eleanor Williams Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v1.3 | Eleanor Williams Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v2.3 | Eleanor Williams Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v2.4 | Eleanor Williams Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v2.3 | Eleanor Williams Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited breast cancer and ovarian cancer v0.7 | Ellen McDonagh Panel status changed from public to internal | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v2.6 | Eleanor Williams Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v2.5 | RET | Eleanor Williams Added comment: Comment on mode of pathogenicity: Updating the mode of pathogenicity in line with the Adult solid tumours cancer susceptibility panel https://panelapp.genomicsengland.co.uk/panels/245/ | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v2.5 | RET | Eleanor Williams Mode of pathogenicity for gene: RET was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | NDUFA2 |
Zornitza Stark gene: NDUFA2 was added gene: NDUFA2 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: NDUFA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA2 were set to 18513682; 28857146 Phenotypes for gene: NDUFA2 were set to Mitochondrial complex I deficiency, nuclear type 13, MIM#618235 Review for gene: NDUFA2 was set to GREEN gene: NDUFA2 was marked as current diagnostic Added comment: Three unrelated families reported, DD/IDD in all. Sources: Expert list |
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| Intellectual disability v3.3 | NCAPG2 |
Zornitza Stark gene: NCAPG2 was added gene: NCAPG2 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: NCAPG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NCAPG2 were set to 30609410 Phenotypes for gene: NCAPG2 were set to Khan-Khan-Katsanis syndrome, MIM# 618460 Review for gene: NCAPG2 was set to GREEN gene: NCAPG2 was marked as current diagnostic Added comment: Two unrelated families and an animal model (zebrafish). Sources: Expert list |
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| Intellectual disability v3.3 | NCAPD2 |
Zornitza Stark gene: NCAPD2 was added gene: NCAPD2 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: NCAPD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NCAPD2 were set to 31056748; 27737959; 28097321 Phenotypes for gene: NCAPD2 were set to Microcephaly 21, primary, autosomal recessive, OMIM #617983 Review for gene: NCAPD2 was set to GREEN gene: NCAPD2 was marked as current diagnostic Added comment: 5 individuals from three unrelated families reported, some functional evidence. Sources: Expert list |
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| Intellectual disability v3.3 | ZNF335 | Zornitza Stark reviewed gene: ZNF335: Rating: GREEN; Mode of pathogenicity: None; Publications: 23178126, 27540107, 29652087; Phenotypes: Microcephaly 10, primary, autosomal recessive, OMIM #615095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | ZNF148 | Zornitza Stark reviewed gene: ZNF148: Rating: GREEN; Mode of pathogenicity: None; Publications: 27964749; Phenotypes: Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, 617260; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | ZMPSTE24 | Zornitza Stark reviewed gene: ZMPSTE24: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612, Restrictive dermopathy, lethal, MIM# 275210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | ZIC3 | Zornitza Stark reviewed gene: ZIC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Heterotaxy, visceral, 1, X-linked 306955, Congenital heart defects, nonsyndromic, 1, X-linked, 306955, VACTERL association, X-linked, 314390; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | ZIC1 | Zornitza Stark reviewed gene: ZIC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26340333, 30391508; Phenotypes: Structural brain anomalies with impaired intellectual development and craniosynostosis, OMIM #618736; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | XYLT1 | Zornitza Stark reviewed gene: XYLT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24581741, 22711505, 23982343; Phenotypes: Desbuquois dysplasia 2, OMIM# 615777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | XPC | Zornitza Stark reviewed gene: XPC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, group C, MIM# 278720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | WRAP53 | Zornitza Stark reviewed gene: WRAP53: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskeratosis congenita, autosomal recessive 3, OMIM# 613988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | WNT7A | Zornitza Stark reviewed gene: WNT7A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fuhrmann syndrome, MIM# 228930, Ulna and fibula, absence of, with severe limb deficiency, MIM# 276820; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | WNT5A | Zornitza Stark reviewed gene: WNT5A: Rating: AMBER; Mode of pathogenicity: None; Publications: 17256787; Phenotypes: Robinow syndrome, autosomal dominant 1, OMIM# 180700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | WNT3 | Zornitza Stark reviewed gene: WNT3: Rating: RED; Mode of pathogenicity: None; Publications: 14872406; Phenotypes: Tetra-amelia syndrome 1, MIM# 273395; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | WNT10B | Zornitza Stark reviewed gene: WNT10B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Split-hand/foot malformation 6, MIM#225300; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | WNT1 | Zornitza Stark reviewed gene: WNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26671912; Phenotypes: Osteogenesis imperfecta, type XV, OMIM# 615220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | WFS1 | Zornitza Stark reviewed gene: WFS1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Wolfram syndrome 1, MIM# 222300, Wolfram-like syndrome, autosomal dominant, MIM# 614296; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | WDR35 | Zornitza Stark reviewed gene: WDR35: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | WDR34 | Zornitza Stark reviewed gene: WDR34: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v1.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v1.2 | Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v1.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.2 | Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v1.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v1.2 | Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined factor V and VIII deficiency v1.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v1.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v1.2 | Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v1.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v1.2 | Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fanconi anaemia or Bloom syndrome v1.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Non-acute porphyrias v1.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pancreatitis v2.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pancreatitis v2.2 | Catherine Snow Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v1.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v1.2 | Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v1.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v1.2 | Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sporadic aniridia v2.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v2.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v2.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or Hypocalciuric hypercalcaemia v2.4 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited breast cancer and ovarian cancer v0.5 | Ellen McDonagh Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited breast cancer and ovarian cancer v0.4 | Ellen McDonagh List of related panels changed from to R208 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v2.3 | APP | alisdair mcneill reviewed gene: APP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v1.5 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v1.4 | Catherine Snow Panel types changed to Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Long QT syndrome v2.4 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Long QT syndrome v2.3 | Catherine Snow Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v2.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v1.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v1.2 | Catherine Snow Panel types changed to GMS Rare Disease; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v2.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v2.2 | Catherine Snow Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary haemorrhagic telangiectasia v2.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary haemorrhagic telangiectasia v2.2 | Catherine Snow Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary arterial hypertension v2.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary arterial hypertension v2.2 | Catherine Snow Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.4 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.4 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.3 | Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v2.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v2.4 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.5 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.4 | Catherine Snow Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v2.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v2.2 | Catherine Snow Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.2 | Catherine Snow Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myaesthenic syndrome v2.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myaesthenic syndrome v2.2 | Catherine Snow Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Distal myopathies v1.19 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Distal myopathies v1.19 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.2 | Catherine Snow Panel types changed to Rare Disease 100K; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v2.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v2.2 | Catherine Snow Panel types changed to GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v2.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v2.2 | Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - childhood onset v1.13 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - childhood onset v1.12 | Catherine Snow Panel types changed to GMS Rare Disease; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - childhood onset v2.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - childhood onset v2.2 | Catherine Snow Panel types changed to GMS Rare Disease; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v1.4 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v1.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal muscle channelopathy v1.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal muscle channelopathy v1.2 | Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, adult onset v1.4 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, childhood onset v2.10 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, childhood onset v2.9 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | WDR19 | Zornitza Stark reviewed gene: WDR19: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Short-rib thoracic dysplasia 5 with or without polydactyly, OMIM #614376, Nephronophthisis 13, OMIM #614377, Senior-Loken syndrome 8, OMIM#616307; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | WDFY3 | Zornitza Stark edited their review of gene: WDFY3: Added comment: >10 individuals with heterozygous variants in this gene and mild/moderate intellectual disability now described in the literature. Some evidence for opposing effects on brain size depending on variant location.; Changed rating: GREEN; Changed publications: 31327001, 27008544; Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | VSX2 | Zornitza Stark reviewed gene: VSX2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Microphthalmia with coloboma 3, MIM# 610092, Microphthalmia, isolated 2, MIM# 610093; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | VARS2 |
Zornitza Stark gene: VARS2 was added gene: VARS2 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: VARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VARS2 were set to 24827421; 25058219; 29137650; 29314548; 31064326 Phenotypes for gene: VARS2 were set to Combined oxidative phosphorylation deficiency 20, OMIM #615917 Review for gene: VARS2 was set to GREEN gene: VARS2 was marked as current diagnostic Added comment: ID is part of the phenotype of this metabolic disorder. Sources: Expert list |
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| Intellectual disability v3.3 | VAMP1 | Zornitza Stark reviewed gene: VAMP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 25, MIM# 618323; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | UVSSA | Zornitza Stark reviewed gene: UVSSA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: UV-sensitive syndrome 3 614640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | USP7 | Zornitza Stark reviewed gene: USP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 30679821; Phenotypes: ID, Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | USP18 | Zornitza Stark reviewed gene: USP18: Rating: GREEN; Mode of pathogenicity: None; Publications: 31940699, 12833411, 27325888; Phenotypes: Pseudo-TORCH syndrome 2, OMIM #617397; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | USB1 | Zornitza Stark reviewed gene: USB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Poikiloderma with neutropenia, MIM# 604173; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | UROS | Zornitza Stark reviewed gene: UROS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Porphyria, congenital erythropoietic, MIM# 263700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | UGT1A1 | Zornitza Stark reviewed gene: UGT1A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Crigler-Najjar syndrome, type I, OMIM #218800, Crigler-Najjar syndrome, type II, OMIM #606785; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | UGP2 | Zornitza Stark reviewed gene: UGP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31820119; Phenotypes: Epileptic encephalopathy, intellectual disability, microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | TYRP1 | Zornitza Stark reviewed gene: TYRP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Albinism, oculocutaneous, type III, 203290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | TYR | Zornitza Stark reviewed gene: TYR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Albinism, oculocutaneous, type IA, 203100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | TXNL4A | Zornitza Stark reviewed gene: TXNL4A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Burn-McKeown syndrome, MIM# 608572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | TUBGCP2 |
Zornitza Stark gene: TUBGCP2 was added gene: TUBGCP2 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: TUBGCP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TUBGCP2 were set to 31630790 Phenotypes for gene: TUBGCP2 were set to Lissencephaly; pachygyria; subcortical band heterotopia; microcephaly; intellectual disability Review for gene: TUBGCP2 was set to GREEN gene: TUBGCP2 was marked as current diagnostic Added comment: Four unrelated families reported. Sources: Expert list |
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| Fetal anomalies v1.3 | TUBA8 | Zornitza Stark reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: 19896110, 31481326, 28388629; Phenotypes: Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | TUBA8 | Zornitza Stark reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: 19896110, 31481326, 28388629; Phenotypes: Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | TSHR | Zornitza Stark reviewed gene: TSHR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypothyroidism, congenital, nongoitrous, 1, MIM# 275200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | TRPV4 | Zornitza Stark reviewed gene: TRPV4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | TRPS1 | Zornitza Stark reviewed gene: TRPS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Trichorhinophalangeal syndrome, type I (MIM 190350), Trichorhinophalangeal syndrome, type III (MIM 190351); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v1.1 | RPL26 | Zornitza Stark reviewed gene: RPL26: Rating: RED; Mode of pathogenicity: None; Publications: 22431104; Phenotypes: Diamond-Blackfan anemia 11, MIM# 614900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | TRPM3 | Zornitza Stark reviewed gene: TRPM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31278393; Phenotypes: Intellectual disability, epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | TRPM1 | Zornitza Stark reviewed gene: TRPM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Night blindness, congenital stationary (complete), 1C, autosomal recessive, MIM# 613216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | TRNT1 |
Zornitza Stark gene: TRNT1 was added gene: TRNT1 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRNT1 were set to 25193871; 23553769; 29170023; 27389523 Phenotypes for gene: TRNT1 were set to Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM #616084 Review for gene: TRNT1 was set to GREEN gene: TRNT1 was marked as current diagnostic Added comment: > 10 families reported with congenital sideroblastic anemia, B-cell deficiency, periodic fevers, and variable degrees of delayed psychomotor development. Sources: Expert list |
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| Intellectual disability v3.3 | TRIP11 | Zornitza Stark reviewed gene: TRIP11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Achondrogenesis, type IA, MIM# 200600, Osteochondrodysplasia, MIM# 184260; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | TRIM32 | Zornitza Stark reviewed gene: TRIM32: Rating: RED; Mode of pathogenicity: None; Publications: 16606853; Phenotypes: Bardet-Biedl syndrome 11, MIM# 615988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | TRAPPC4 | Zornitza Stark reviewed gene: TRAPPC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31794024; Phenotypes: intellectual disability, epilepsy, spasticity, microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | TRAPPC2 | Zornitza Stark reviewed gene: TRAPPC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondyloepiphyseal dysplasia tarda, MIM# 313400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | TRAK1 | Zornitza Stark reviewed gene: TRAK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940097, 28364549, 29846532; Phenotypes: Epileptic encephalopathy, early infantile, 68, MIM# 618201; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | TP73 |
Zornitza Stark gene: TP73 was added gene: TP73 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: TP73 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TP73 were set to 31130284 Phenotypes for gene: TP73 were set to Intellectual disability; lissencephaly Review for gene: TP73 was set to AMBER Added comment: Two unrelated families, no functional data. Sources: Expert list |
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| Intellectual disability v3.3 | TP63 | Zornitza Stark reviewed gene: TP63: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ADULT syndrome, OMIM #103285, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM #604292, Hay-Wells syndrome, OMIM #106260, Limb-mammary syndrome, OMIM #603543, Orofacial cleft 8, OMIM #618149, Rapp-Hodgkin syndrome, OMIM #129400, Split-hand/foot malformation 4, OMIM #605289; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | SPOP |
Zornitza Stark gene: SPOP was added gene: SPOP was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: SPOP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPOP were set to 32109420 Phenotypes for gene: SPOP were set to Intellectual disability; dysmorphism; microcephaly; macrocephaly Mode of pathogenicity for gene: SPOP was set to Other Review for gene: SPOP was set to GREEN gene: SPOP was marked as current diagnostic Added comment: Seven individuals reported with de novo missense variants in this gene. Gain-of-function variants associated with microcephaly whereas dominant-negative variants associated with macrocephaly. Sources: Literature |
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| Intellectual disability v3.3 | TMPRSS6 | Zornitza Stark reviewed gene: TMPRSS6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Iron-refractory iron deficiency anemia 206200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | TMEM126B | Zornitza Stark reviewed gene: TMEM126B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 29, MIM# 618250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | TINF2 | Zornitza Stark reviewed gene: TINF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 1404302, 18252230, 21477109; Phenotypes: Revesz syndrome, MIM# 268130; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | TGFB3 | Zornitza Stark reviewed gene: TGFB3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 1, MIM# 107970, Loeys-Dietz syndrome 5, MIM# 615582; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | TGFB2 | Zornitza Stark reviewed gene: TGFB2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 4, MIM# 614816; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | TGFB1 | Zornitza Stark reviewed gene: TGFB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29483653; Phenotypes: Inflammatory bowel disease, immunodeficiency, and encephalopathy, MIM# 618213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | TET3 | Zornitza Stark reviewed gene: TET3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31928709; Phenotypes: Intellectual disability, dysmorphic features, abnormal growth, movement disorders; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | TENM3 |
Zornitza Stark gene: TENM3 was added gene: TENM3 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: TENM3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TENM3 were set to 30513139; 22766609; 27103084; 29753094 Phenotypes for gene: TENM3 were set to Microphthalmia, syndromic 15, MIM#615145; coloboma Review for gene: TENM3 was set to GREEN gene: TENM3 was marked as current diagnostic Added comment: At least four unrelated families described with syndromic microphthalmia and bi-allelic variants in this gene, ID is part of the phenotype. Sources: Expert list |
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| Intellectual disability v3.3 | TEK | Zornitza Stark reviewed gene: TEK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glaucoma 3, primary congenital, E , MIM#617272, Venous malformations, multiple cutaneous and mucosal, MIM# 600195; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | TCTN3 | Zornitza Stark reviewed gene: TCTN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22883145, 25118024, 26092869; Phenotypes: Joubert syndrome 18, OMIM #614815, Orofaciodigital syndrome IV, OMIM #258860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | TCF12 | Zornitza Stark reviewed gene: TCF12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniosynostosis 3, MIM# 615314; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | TBXAS1 | Zornitza Stark reviewed gene: TBXAS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ghosal hematodiaphyseal syndrome, MIM# 231095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | TBX5 | Zornitza Stark reviewed gene: TBX5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Holt-Oram syndrome, MIM# 142900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | TBX4 | Zornitza Stark reviewed gene: TBX4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, MIM# 601360, Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, MIM# 147891; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | TBX3 | Zornitza Stark reviewed gene: TBX3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ulnar-mammary syndrome, MIM# 181450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | TBX22 | Zornitza Stark reviewed gene: TBX22: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Abruzzo-Erickson syndrome, MIM# 302905, Cleft palate with ankyloglossia, MIM# 303400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | TBX20 | Zornitza Stark reviewed gene: TBX20: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrial septal defect 4, MIM# 611363; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | TBX15 | Zornitza Stark reviewed gene: TBX15: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cousin syndrome, MIM# 260660; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | TASP1 |
Zornitza Stark gene: TASP1 was added gene: TASP1 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: TASP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TASP1 were set to 31209944; 31350873 Phenotypes for gene: TASP1 were set to Developmental delay; microcephaly; dysmorphic features; congenital abnormalities Review for gene: TASP1 was set to GREEN gene: TASP1 was marked as current diagnostic Added comment: Four unrelated families reported; two with founder mutation. Protein interacts with KMT2A and KMT2D. Another de novo missense variant reported in a single infant with multiple congenital abnormalities, insufficient evidence for mono allelic disease at present. Sources: Expert list |
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| Intellectual disability v3.3 | TANC2 | Zornitza Stark reviewed gene: TANC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31616000; Phenotypes: Intellectual disability, autism, epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | TAB2 | Zornitza Stark reviewed gene: TAB2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital heart defects, nonsyndromic, 2, MIM# 614980; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | SUZ12 | Zornitza Stark edited their review of gene: SUZ12: Changed phenotypes: Imagawa-Matsumoto syndrome, MIM# 618786, Intellectual disability, Overgrowth | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | SUZ12 | Zornitza Stark reviewed gene: SUZ12: Rating: GREEN; Mode of pathogenicity: None; Publications: 31736240, 30019515, 28229514; Phenotypes: Intellectual disability, Overgrowth; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | SUCLA2 |
Zornitza Stark gene: SUCLA2 was added gene: SUCLA2 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUCLA2 were set to 27913098; 15877282; 23759946; 17287286; 17301081 Phenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria); OMIM #612073 Review for gene: SUCLA2 was set to GREEN Added comment: ID is part of the phenotype of this mitochondrial disorder. Sources: Expert list |
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| Intellectual disability v3.3 | STT3A | Zornitza Stark reviewed gene: STT3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23842455, 30701557, 28424003; Phenotypes: Congenital disorder of glycosylation, type Iw, OMIM #615596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | STS | Zornitza Stark reviewed gene: STS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | STAT1 | Zornitza Stark reviewed gene: STAT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | STAR | Zornitza Stark reviewed gene: STAR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lipoid adrenal hyperplasia, MIM# 201710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | SRY | Zornitza Stark reviewed gene: SRY: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.3 | SRPX2 | Zornitza Stark reviewed gene: SRPX2: Rating: RED; Mode of pathogenicity: None; Publications: 16497722, 23933820, 23871722; Phenotypes: Rolandic epilepsy, mental retardation, and speech dyspraxia, MIM# 300643; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | ZNF341 | Louise Daugherty edited their review of gene: ZNF341: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 29907691, 29907690 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | TRIM22 | Louise Daugherty reviewed gene: TRIM22: Rating: AMBER; Mode of pathogenicity: ; Publications: 26836588; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | TOP2B | Louise Daugherty reviewed gene: TOP2B: Rating: AMBER; Mode of pathogenicity: ; Publications: 31409799; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | TNFRSF9 | Louise Daugherty reviewed gene: TNFRSF9: Rating: AMBER; Mode of pathogenicity: ; Publications: 31537641, 30872117, 31501153; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | TGFBR2 | Louise Daugherty reviewed gene: TGFBR2: Rating: AMBER; Mode of pathogenicity: ; Publications: 29392890; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | TGFBR1 | Louise Daugherty reviewed gene: TGFBR1: Rating: AMBER; Mode of pathogenicity: ; Publications: 29392890; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | TGFB1 | Louise Daugherty reviewed gene: TGFB1: Rating: AMBER; Mode of pathogenicity: ; Publications: 29483653; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | SRP54 | Louise Daugherty edited their review of gene: SRP54: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 28972538, 29914977 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | SLC7A7 | Louise Daugherty reviewed gene: SLC7A7: Rating: AMBER; Mode of pathogenicity: ; Publications: 28057010; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | SLC39A7 | Louise Daugherty edited their review of gene: SLC39A7: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 30718914 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | SH3KBP1 | Louise Daugherty reviewed gene: SH3KBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 29636373; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | SEC61A1 | Louise Daugherty reviewed gene: SEC61A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28782633; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | RELA | Louise Daugherty reviewed gene: RELA: Rating: AMBER; Mode of pathogenicity: ; Publications: 28600438, 29305315; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | REL | Louise Daugherty reviewed gene: REL: Rating: AMBER; Mode of pathogenicity: ; Publications: 31103457; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | RAC2 | Louise Daugherty edited their review of gene: RAC2: Added comment: Added publication referenced by IUIS december 2019 update; Changed publications: 25512081, 30723080, 30654050, 31071452, 31382036 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | PSMG2 | Louise Daugherty reviewed gene: PSMG2: Rating: AMBER; Mode of pathogenicity: ; Publications: 30664889; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | POLD2 | Louise Daugherty reviewed gene: POLD2: Rating: AMBER; Mode of pathogenicity: ; Publications: 31449058; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | POLD1 | Louise Daugherty reviewed gene: POLD1: Rating: AMBER; Mode of pathogenicity: ; Publications: 31449058, 31629014; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | OAS1 | Louise Daugherty reviewed gene: OAS1: Rating: AMBER; Mode of pathogenicity: ; Publications: 29455859; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | NLRP1 | Louise Daugherty edited their review of gene: NLRP1: Added comment: Added publication referenced by IUIS december 2019 update; Changed publications: 27662089, 31484767 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | NFE2L2 | Louise Daugherty reviewed gene: NFE2L2: Rating: AMBER; Mode of pathogenicity: ; Publications: 29018201; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | LIG1 | Louise Daugherty edited their review of gene: LIG1: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 30395541 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | IL6ST | Louise Daugherty edited their review of gene: IL6ST: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 30309848, 28747427 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | IL6R | Louise Daugherty edited their review of gene: IL6R: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 31235509, 31778705 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | IL2RB | Louise Daugherty reviewed gene: IL2RB: Rating: AMBER; Mode of pathogenicity: ; Publications: 31040184, 31040185; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | IKZF1 | Louise Daugherty edited their review of gene: IKZF1: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 29889099 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | IKBKB | Louise Daugherty edited their review of gene: IKBKB: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 30337470, 24369075 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | ICOSLG | Louise Daugherty edited their review of gene: ICOSLG: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 30498080 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | HAVCR2 | Louise Daugherty reviewed gene: HAVCR2: Rating: AMBER; Mode of pathogenicity: ; Publications: 30374066, 30792187; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | FOXN1 | Louise Daugherty edited their review of gene: FOXN1: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 31447097 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | FERMT1 | Louise Daugherty reviewed gene: FERMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: 21936020; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | FCHO1 | Louise Daugherty reviewed gene: FCHO1: Rating: AMBER; Mode of pathogenicity: ; Publications: 30822429; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | ERBIN | Louise Daugherty edited their review of gene: ERBIN: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 28126831 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | DNASE2 | Louise Daugherty edited their review of gene: DNASE2: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 29259162 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | DNASE1L3 | Louise Daugherty edited their review of gene: DNASE1L3: Added comment: Added publication referenced by IUIS december 2019 update; Changed publications: 22019780, 23666765, 27821515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | DNAJC21 | Louise Daugherty edited their review of gene: DNAJC21: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 28062395 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | DEF6 | Louise Daugherty reviewed gene: DEF6: Rating: AMBER; Mode of pathogenicity: ; Publications: 31308374; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | C17orf62 | Louise Daugherty edited their review of gene: C17orf62: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 30361506, 30312704 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | CARD11 | Louise Daugherty edited their review of gene: CARD11: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 30170123, 29074947 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | C1S | Louise Daugherty edited their review of gene: C1S: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 27745832 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | C1R | Louise Daugherty edited their review of gene: C1R: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 27745832 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | ARHGEF1 | Louise Daugherty reviewed gene: ARHGEF1: Rating: AMBER; Mode of pathogenicity: ; Publications: 30521495; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | ALPI | Louise Daugherty reviewed gene: ALPI: Rating: AMBER; Mode of pathogenicity: ; Publications: 29567797; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | ZNF341 | Louise Daugherty Publications for gene ZNF341 were updated from 32048120; 29907691; 29907690; 32086639 to 32086639; 29907691; 32048120; 29907690 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | TRIM22 | Louise Daugherty Publications for gene TRIM22 were updated from 32048120; 32086639 to 26836588; 32086639; 32048120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | TOP2B | Louise Daugherty Publications for gene TOP2B were updated from 32048120; 32086639 to 31409799; 32086639; 32048120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | TNFRSF9 | Louise Daugherty Publications for gene TNFRSF9 were updated from 32048120; 32086639 to 30872117; 32086639; 31537641; 31501153; 32048120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | TGFBR2 | Louise Daugherty Publications for gene TGFBR2 were updated from 32048120; 32086639 to 32086639; 32048120; 29392890 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | TGFBR1 | Louise Daugherty Publications for gene TGFBR1 were updated from 32048120; 32086639 to 32086639; 32048120; 29392890 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | TGFB1 | Louise Daugherty Publications for gene TGFB1 were updated from 32048120; 32086639 to 32086639; 32048120; 29483653 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | SRP54 | Louise Daugherty Publications for gene SRP54 were updated from 32048120; 32086639 to 32086639; 28972538; 29914977; 32048120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | SLC7A7 | Louise Daugherty Publications for gene SLC7A7 were updated from 32086639; 32048120 to 28057010; 32086639; 32048120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | SLC39A7 | Louise Daugherty Publications for gene SLC39A7 were updated from 32048120; 30718914; 32086639 to 32086639; 32048120; 30718914 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | SH3KBP1 | Louise Daugherty Publications for gene SH3KBP1 were updated from 32048120; 32086639 to 32086639; 32048120; 29636373 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | SEC61A1 | Louise Daugherty Publications for gene SEC61A1 were updated from 32048120; 32086639 to 28782633; 32086639; 32048120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | RELA | Louise Daugherty Publications for gene RELA were updated from 32048120; 32086639 to 28600438; 32086639; 32048120; 29305315 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | REL | Louise Daugherty Publications for gene REL were updated from 32048120; 32086639 to 32086639; 31103457; 32048120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | RAC2 | Louise Daugherty Publications for gene RAC2 were updated from 10961859; 10758162; 21167572; 25512081 to 21167572; 30654050; 30723080; 31071452; 25512081; 10758162; 31382036; 10961859 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | PSMG2 | Louise Daugherty Publications for gene PSMG2 were updated from 32048120; 32086639 to 30664889; 32086639; 32048120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | POLD2 | Louise Daugherty Publications for gene POLD2 were updated from 32086639; 32048120 to 31449058; 32086639; 32048120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | POLD1 | Louise Daugherty Publications for gene POLD1 were updated from 32048120; 32086639 to 31449058; 32086639; 32048120; 31629014 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | OAS1 | Louise Daugherty Publications for gene OAS1 were updated from 32048120; 32086639 to 32086639; 29455859; 32048120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | NLRP1 | Louise Daugherty Publications for gene NLRP1 were updated from 27965258; 29850521 to 29850521; 27662089; 31484767; 27965258 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | NFE2L2 | Louise Daugherty Publications for gene NFE2L2 were updated from 32048120; 32086639 to 32086639; 32048120; 29018201 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | LIG1 | Louise Daugherty Publications for gene LIG1 were updated from 32048120; 1581963; 32086639 to 30395541; 1581963; 32086639; 32048120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | IL6ST | Louise Daugherty Publications for gene IL6ST were updated from 32048120; 31235509; 32086639 to 31235509; 32086639; 30309848; 28747427; 32048120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | IL6R | Louise Daugherty Publications for gene IL6R were updated from 32048120; 31235509; 32086639 to 31235509; 32086639; 32048120; 31778705 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | IL2RB | Louise Daugherty Publications for gene IL2RB were updated from 32086639; 32048120 to 32086639; 31040185; 32048120; 31040184 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | IKZF1 | Louise Daugherty Publications for gene IKZF1 were updated from 21548011; 26981933 to 29889099; 21548011; 26981933 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | IKBKB | Louise Daugherty Publications for gene IKBKB were updated from 24369075; 25216719 to 25216719; 24369075; 30337470 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | ICOSLG | Louise Daugherty Publications for gene ICOSLG were updated from 32048120; 32086639 to 32086639; 32048120; 30498080 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | HAVCR2 | Louise Daugherty Publications for gene HAVCR2 were updated from 32086639; 32048120 to 30792187; 32086639; 32048120; 30374066 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | FOXN1 | Louise Daugherty Publications for gene FOXN1 were updated from 15180707; 10206641; 21507891; 28636882; 28077132; 29593714; 11159512 to 28636882; 15180707; 21507891; 11159512; 31447097; 10206641; 28077132; 29593714 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | FERMT1 | Louise Daugherty Publications for gene FERMT1 were updated from 32048120; 32086639 to 32086639; 32048120; 21936020 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | FCHO1 | Louise Daugherty Publications for gene FCHO1 were updated from 32048120; 32086639 to 32086639; 30822429; 32048120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | ERBIN | Louise Daugherty Publications for gene ERBIN were updated from 32086639; 32048120 to 28126831; 32086639; 32048120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | DNASE1L3 | Louise Daugherty Publications for gene DNASE1L3 were updated from 32048120; 22019780; 32086639 to 27821515; 23666765; 22019780; 32086639; 32048120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | DNAJC21 | Louise Daugherty Publications for gene DNAJC21 were updated from 27346687; 28062395; 29700810 to 27346687; 29700810; 28062395 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | DEF6 | Louise Daugherty Publications for gene DEF6 were updated from 32086639; 32048120 to 32086639; 31308374; 32048120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | C17orf62 | Louise Daugherty Publications for gene C17orf62 were updated from 32086639; 32048120 to 30312704; 30361506; 32086639; 32048120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | CARD11 | Louise Daugherty Publications for gene CARD11 were updated from 23374270; 23561803; 28628108; 28826773; 23129749; 25352053 to 25352053; 23374270; 29074947; 23561803; 23129749; 30170123; 28628108; 28826773 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | C1S | Louise Daugherty Publications for gene C1S were updated from 11390518; 9856483; 20727163 to 27745832; 11390518; 20727163; 9856483 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | C1R | Louise Daugherty Publications for gene C1R were updated from 27745832; 29795138; 28711143; 21784777; 28544690 to 28544690; 21784777; 27745832; 29795138; 28711143 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | ARHGEF1 | Louise Daugherty Publications for gene ARHGEF1 were updated from 32086639; 32048120 to 32086639; 30521495; 32048120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | ALPI | Louise Daugherty Publications for gene ALPI were updated from 32086639; 32048120 to 32086639; 32048120; 29567797 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | ZNF341 |
Louise Daugherty Source IUIS Classification December 2019 was added to ZNF341. Added phenotypes Bacterial infections, mild facial dysmorphism, pneumatoceles, hyperextensible joints, bone fractures, retention of primary teeth; Combined immunodeficiencies with associated or syndromic features for gene: ZNF341 Publications for gene ZNF341 were updated from 29907690; 29907691 to 32048120; 29907691; 29907690; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | WRAP53 |
Louise Daugherty Source IUIS Classification December 2019 was added to WRAP53. Mode of inheritance for gene WRAP53 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay; Bone marrow failure for gene: WRAP53 Publications for gene WRAP53 were updated from to 32048120; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | WDR1 |
Louise Daugherty Source IUIS Classification December 2019 was added to WDR1. Added phenotypes Mild neutropenia, poor wound healing, severe stomatitis, neutrophil nuclei herniate; Congenital defects of phagocyte number or function for gene: WDR1 Publications for gene WDR1 were updated from 27557945 to 32048120; 27557945; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | USP18 |
Louise Daugherty Source IUIS Classification December 2019 was added to USP18. Added phenotypes Autoinflammatory Disorders; TORCH like syndrome for gene: USP18 Publications for gene USP18 were updated from 31272490; 27325888 to 32048120; 27325888; 31272490; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | TRAF3IP2 |
Louise Daugherty Source IUIS Classification December 2019 was added to TRAF3IP2. Added phenotypes CMC, blepharitis, folliculitis and macroglossia; Defects in intrinsic and innate immunity for gene: TRAF3IP2 Publications for gene TRAF3IP2 were updated from 24120361 to 32048120; 24120361; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | TRAF3 |
Louise Daugherty Source IUIS Classification December 2019 was added to TRAF3. Added phenotypes Defects in intrinsic and innate immunity; Herpes simplex virus 1 encephalitis for gene: TRAF3 Publications for gene TRAF3 were updated from 20832341; 11296228; 24378539 to 24378539; 20832341; 32048120; 11296228; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | TNFSF12 |
Louise Daugherty Source IUIS Classification December 2019 was added to TNFSF12. Added phenotypes Predominantly Antibody Deficiencies; Pneumonia, bacterial infections, warts, thrombocytopenia for gene: TNFSF12 Publications for gene TNFSF12 were updated from 23493554 to 32048120; 23493554; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | TNFSF11 |
Louise Daugherty Source IUIS Classification December 2019 was added to TNFSF11. Mode of inheritance for gene TNFSF11 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Osteopetrosis with severe growth retardation; Defects in intrinsic and innate immunity for gene: TNFSF11 Publications for gene TNFSF11 were updated from to 32048120; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | TNFRSF4 |
Louise Daugherty Source IUIS Classification December 2019 was added to TNFRSF4. Added phenotypes Impaired immunity to HHV8, Kaposis sarcoma; Immunodeficiencies affecting cellular and humoral immunity for gene: TNFRSF4 Publications for gene TNFRSF4 were updated from to 32048120; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | TNFRSF13C |
Louise Daugherty Source IUIS Classification December 2019 was added to TNFRSF13C. Added phenotypes Variable clinical expression; Predominantly Antibody Deficiencies for gene: TNFRSF13C Publications for gene TNFRSF13C were updated from to 32048120; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | TNFRSF13B |
Louise Daugherty Source IUIS Classification December 2019 was added to TNFRSF13B. Added phenotypes Variable clinical expression; Predominantly Antibody Deficiencies for gene: TNFRSF13B Publications for gene TNFRSF13B were updated from 16007086; 16007087; 18981294; 28834165; 29114388 to 16007086; 18981294; 29114388; 16007087; 32048120; 28834165; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | TNFRSF11A |
Louise Daugherty Source IUIS Classification December 2019 was added to TNFRSF11A. Added phenotypes Osteopetrosis; Defects in intrinsic and innate immunity for gene: TNFRSF11A Publications for gene TNFRSF11A were updated from to 32048120; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | TIRAP |
Louise Daugherty Source IUIS Classification December 2019 was added to TIRAP. Mode of inheritance for gene TIRAP was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Defects in intrinsic and innate immunity; Staphylococcal disease during childhood for gene: TIRAP Publications for gene TIRAP were updated from 28235196 to 32048120; 28235196; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | THBD |
Louise Daugherty Source IUIS Classification December 2019 was added to THBD. Mode of inheritance for gene THBD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Atypical hemolytic-uremic syndrome; Complement Deficiencies for gene: THBD Publications for gene THBD were updated from to 32048120; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | TFRC |
Louise Daugherty Source IUIS Classification December 2019 was added to TFRC. Mode of inheritance for gene TFRC was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Recurrent infections, thrombocytopenia; Immunodeficiencies affecting cellular and humoral immunity for gene: TFRC Publications for gene TFRC were updated from to 32048120; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | TERC |
Louise Daugherty Source IUIS Classification December 2019 was added to TERC. Added phenotypes Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay; Bone marrow failure for gene: TERC Publications for gene TERC were updated from 16332973; 11574891; 12525685 to 32048120; 12525685; 16332973; 11574891; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | TCIRG1 |
Louise Daugherty Source IUIS Classification December 2019 was added to TCIRG1. Mode of inheritance for gene TCIRG1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Defects in intrinsic and innate immunity; Osteopetrosis with hypocalcemia for gene: TCIRG1 Publications for gene TCIRG1 were updated from to 32048120; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | TBX1 |
Louise Daugherty Source IUIS Classification December 2019 was added to TBX1. Added phenotypes Hypoparathyroidism, conotruncal cardiac malformation, velopalatal insufficiency, abnormal facies, intellectual disability; Combined immunodeficiencies with associated or syndromic features for gene: TBX1 Publications for gene TBX1 were updated from 24198816; 14585638; 11242110 to 11242110; 14585638; 24198816; 32048120; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | TAPBP |
Louise Daugherty Source IUIS Classification December 2019 was added to TAPBP. Added phenotypes Vasculitis,pyoderma gangrenosum; Immunodeficiencies affecting cellular and humoral immunity for gene: TAPBP Publications for gene TAPBP were updated from 12149238 to 32048120; 12149238; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | STN1 |
Louise Daugherty Source IUIS Classification December 2019 was added to STN1. Mode of inheritance for gene STN1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Intrauterine growth retardation, premature aging, pancytopenia, hypocellular bone marrow, gastrointestinal hemorrhage due to vascular ectasia, intracranial calcification, abnormal telomeres; Bone marrow failure for gene: STN1 Publications for gene STN1 were updated from to 32048120; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | SRP54 |
Louise Daugherty Source IUIS Classification December 2019 was added to SRP54. Mode of inheritance for gene SRP54 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Congenital defects of phagocyte number or function; Schwachman Diamond features for gene: SRP54 Publications for gene SRP54 were updated from to 32048120; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | SNX10 |
Louise Daugherty Source IUIS Classification December 2019 was added to SNX10. Mode of inheritance for gene SNX10 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Osteopetrosis with visual impairment; Defects in intrinsic and innate immunity for gene: SNX10 Publications for gene SNX10 were updated from to 32048120; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | SMARCD2 |
Louise Daugherty Source IUIS Classification December 2019 was added to SMARCD2. Mode of inheritance for gene SMARCD2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Neutropenia, developmental aberrations, skeletal abnormalities, hematopoietic stem cells, myelodysplasia; Congenital defects of phagocyte number or function for gene: SMARCD2 Publications for gene SMARCD2 were updated from to 32048120; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | SLC39A7 |
Louise Daugherty Source IUIS Classification December 2019 was added to SLC39A7. Added phenotypes Early onset infections, blistering dermatosis, failure to thrive, thrombocytopenia; Predominantly Antibody Deficiencies for gene: SLC39A7 Publications for gene SLC39A7 were updated from 30718914 to 32048120; 30718914; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | SH3BP2 |
Louise Daugherty Source IUIS Classification December 2019 was added to SH3BP2. Added phenotypes Bone degeneration in jaws; Autoinflammatory Disorders for gene: SH3BP2 Publications for gene SH3BP2 were updated from 22640988; 28914985; 11381256; 29669173 to 29669173; 22640988; 32048120; 28914985; 11381256; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | SEMA3E |
Louise Daugherty Source IUIS Classification December 2019 was added to SEMA3E. Added phenotypes Coloboma, heart anomaly, choanal atresia, intellectual retardation, genital and ear anomalies, CNS malformation, some are SCID-like and have low TRECs; Combined immunodeficiencies with associated or syndromic features for gene: SEMA3E Publications for gene SEMA3E were updated from 1735828; 21055784; 12144540 to 12144540; 1735828; 32048120; 21055784; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | SAMD9L |
Louise Daugherty Source IUIS Classification December 2019 was added to SAMD9L. Added phenotypes Bone marrow failure; MDS, neurological features for gene: SAMD9L Publications for gene SAMD9L were updated from 28202457 to 32048120; 28202457; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | SAMD9 |
Louise Daugherty Source IUIS Classification December 2019 was added to SAMD9. Mode of inheritance for gene SAMD9 was changed from Other - please specifiy in evaluation comments to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes IUGR with gonadal abnormalities, adrenal failure, MDS with chromosome 7 aberrations, predisposition to infections, enteropathy, absent spleen; Bone marrow failure for gene: SAMD9 Publications for gene SAMD9 were updated from 28487541; 29175836; 29266745; 29535429 to 28487541; 29535429; 32048120; 29266745; 29175836; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | RNU4ATAC |
Louise Daugherty Source IUIS Classification December 2019 was added to RNU4ATAC. Mode of inheritance for gene RNU4ATAC was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Recurrent bacterial infections, lymphadenopathy, Spondyloepiphyseal dysplasia, extreme intrauterine growth retardation, retinal dystrophy, facial dysmorphism, may present with microcephaly, short stature for gene: RNU4ATAC Publications for gene RNU4ATAC were updated from to 32048120; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | RNF31 |
Louise Daugherty Source IUIS Classification December 2019 was added to RNF31. Added phenotypes Bacterial infections, autoinflammation, amylopectinosis, lymphangiectasia; Combined immunodeficiencies with associated or syndromic features for gene: RNF31 Publications for gene RNF31 were updated from 26008899 to 32048120; 26008899; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | RHOH |
Louise Daugherty Source IUIS Classification December 2019 was added to RHOH. Added phenotypes HPV infection, lung granulomas, molluscum contagiosum, lymphoma; Immunodeficiencies affecting cellular and humoral immunity for gene: RHOH Publications for gene RHOH were updated from 22850876; 24189071 to 32048120; 22850876; 24189071; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | RELB |
Louise Daugherty Source IUIS Classification December 2019 was added to RELB. Added phenotypes Recurrent infectionsImmunodeficiencies affecting cellular and humoral immunity for gene: RELB Publications for gene RELB were updated from 26385063 to 32048120; 26385063; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | RANBP2 |
Louise Daugherty Source IUIS Classification December 2019 was added to RANBP2. Added phenotypes Defects in intrinsic and innate immunity; Fever induces acute encephalopathy for gene: RANBP2 Publications for gene RANBP2 were updated from to 32048120; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | PTEN |
Louise Daugherty Source IUIS Classification December 2019 was added to PTEN. Added phenotypes Recurrent infections, Lymphoproliferation, Autoimmunity; developmental delay; Predominantly Antibody Deficiencies for gene: PTEN Publications for gene PTEN were updated from 27426521 to 32048120; 27426521; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | PSENEN |
Louise Daugherty Source IUIS Classification December 2019 was added to PSENEN. Added phenotypes Defects in intrinsic and innate immunity; Hidradenitis suppurativa for gene: PSENEN Publications for gene PSENEN were updated from 20929727; 21412258; 27900998; 28287404; 28601418; 23439959; 23020871; 28922471 to 21412258; 28601418; 23439959; 32048120; 27900998; 28287404; 20929727; 28922471; 23020871; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | POLE2 |
Louise Daugherty Source IUIS Classification December 2019 was added to POLE2. Added phenotypes Recurrent infections, disseminated BCG infections, autoimmunity (type 1 diabetes, hypothyroidism, facial dysmorphism); Combined immunodeficiencies with associated or syndromic features for gene: POLE2 Publications for gene POLE2 were updated from to 32048120; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | PMS2 |
Louise Daugherty Source IUIS Classification December 2019 was added to PMS2. Mode of inheritance for gene PMS2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Recurrent infections, cafe-au-lait spots, lymphoma, colorectal carcinoma, brain tumors; Combined immunodeficiencies with associated or syndromic features for gene: PMS2 Publications for gene PMS2 were updated from 7661930; 15077197; 9488480; 10763829; 16507833 to 15077197; 32048120; 7661930; 9488480; 16507833; 10763829; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | PLEKHM1 |
Louise Daugherty Source IUIS Classification December 2019 was added to PLEKHM1. Mode of inheritance for gene PLEKHM1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Osteopetrosis; Defects in intrinsic and innate immunity for gene: PLEKHM1 Publications for gene PLEKHM1 were updated from to 32048120; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | OSTM1 |
Louise Daugherty Source IUIS Classification December 2019 was added to OSTM1. Added phenotypes Osteopetrosis with hypocalcemia, neurologic features; Defects in intrinsic and innate immunity for gene: OSTM1 Publications for gene OSTM1 were updated from to 32048120; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | NFAT5 |
Louise Daugherty Source IUIS Classification December 2019 was added to NFAT5. Added phenotypes IBD, recurrent sinopulmonary infections; Diseases of Immune Dysregulation for gene: NFAT5 Publications for gene NFAT5 were updated from to 32048120; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | NCSTN |
Louise Daugherty Source IUIS Classification December 2019 was added to NCSTN. Added phenotypes Defects in intrinsic and innate immunity; Hidradenitis suppurativa with acne for gene: NCSTN Publications for gene NCSTN were updated from 20929727; 21412258 to 32048120; 20929727; 21412258; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | NBAS |
Louise Daugherty Source IUIS Classification December 2019 was added to NBAS. Added phenotypes Defects in intrinsic and innate immunity; Fever induces liver failure for gene: NBAS Publications for gene NBAS were updated from to 32048120; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | MSH6 |
Louise Daugherty Source IUIS Classification December 2019 was added to MSH6. Mode of inheritance for gene MSH6 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Predominantly Antibody Deficiencies; Family or personal history of cancer for gene: MSH6 Publications for gene MSH6 were updated from to 32048120; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | MS4A1 |
Louise Daugherty Source IUIS Classification December 2019 was added to MS4A1. Added phenotypes Recurrent infections; Predominantly Antibody Deficiencies for gene: MS4A1 Publications for gene MS4A1 were updated from 20038800; 27250108 to 32048120; 27250108; 20038800; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | MKL1 |
Louise Daugherty Source IUIS Classification December 2019 was added to MKL1. Added phenotypes Mild thrombocytopenia; Congenital defects of phagocyte number or function for gene: MKL1 Publications for gene MKL1 were updated from 26224645 to 32048120; 26224645; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | MASP2 |
Louise Daugherty Source IUIS Classification December 2019 was added to MASP2. Added phenotypes Pyogenic infections, inflammatory lung disease, autoimmunity; Complement Deficiencies for gene: MASP2 Publications for gene MASP2 were updated from 24658431 to 32048120; 24658431; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | LIG1 |
Louise Daugherty Source IUIS Classification December 2019 was added to LIG1. Added phenotypes Recurrent respiratory infections, growth retardation, sun sensitivity, lymphoma, radiation sensitivity; Combined immunodeficiencies with associated or syndromic features for gene: LIG1 Publications for gene LIG1 were updated from 1581963 to 32048120; 1581963; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | KMT2D |
Louise Daugherty Source IUIS Classification December 2019 was added to KMT2D. Added phenotypes Typical facial abnormalities, cleft or high arched palate, skeletal abnormalities, short stature, intellectual disability, congenital heart defects, recurrent infections (otitis media, pneumonia) in 50% of patients. Autoimmunity may be present; Combined immunodeficiencies with associated or syndromic features for gene: KMT2D Publications for gene KMT2D were updated from 15887282; 25142838; 15523604; 26411453 to 25142838; 32048120; 15887282; 15523604; 26411453; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | KMT2A |
Louise Daugherty Source IUIS Classification December 2019 was added to KMT2A. Added phenotypes Respiratory infections, short stature, hypertelorism, hairy elbows, developmental delay, intellectual disability; Combined immunodeficiencies with associated or syndromic features for gene: KMT2A Publications for gene KMT2A were updated from 27320412 to 32048120; 27320412; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | KDM6A |
Louise Daugherty Source IUIS Classification December 2019 was added to KDM6A. Added phenotypes Typical facial abnormalities, cleft or high arched palate, skeletal abnormalities, short stature, intellectual disability, congenital heart defects, recurrent infections (otitis media, pneumonia) in 50% of patients. Autoimmunity may be present; Combined immunodeficiencies with associated or syndromic features for gene: KDM6A Publications for gene KDM6A were updated from 26411453; 25546742; 15887282; 25142838; 15523604 to 25546742; 25142838; 32048120; 15887282; 15523604; 26411453; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | JAK1 |
Louise Daugherty Source IUIS Classification December 2019 was added to JAK1. Mode of inheritance for gene JAK1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Diseases of Immune Dysregulation; HSM, eosinophilic enteritis, thyroid disease, poor growth, viral infections for gene: JAK1 Publications for gene JAK1 were updated from 28111307 to 32048120; 28111307; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | IRF7 |
Louise Daugherty Source IUIS Classification December 2019 was added to IRF7. Added phenotypes Severe influenza disease for gene: IRF7 Publications for gene IRF7 were updated from 25814066; 26761402; 9315633 to 26761402; 25814066; 9315633; 32048120; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | IRF3 |
Louise Daugherty Source IUIS Classification December 2019 was added to IRF3. Added phenotypes Herpes simplex virus 1 encephalitis for gene: IRF3 Publications for gene IRF3 were updated from 26216125; 26513235 to 32048120; 26216125; 26513235; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | IRF2BP2 |
Louise Daugherty Source IUIS Classification December 2019 was added to IRF2BP2. Added phenotypes Recurrent infections, possible autoimmunity and inflammatory disease; Predominantly Antibody Deficiencies for gene: IRF2BP2 Publications for gene IRF2BP2 were updated from 27016798 to 32048120; 27016798; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | IRAK1 |
Louise Daugherty Source IUIS Classification December 2019 was added to IRAK1. Mode of inheritance for gene IRAK1 was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Bacterial infections, X-linked MECP2 deficiency-related syndrome due to a large de novo Xq28 chromosomal deletion encompassing both MECP2 and IRAK1 for gene: IRAK1 Publications for gene IRAK1 were updated from 28069966 to 32048120; 28069966; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | IL6ST |
Louise Daugherty Source IUIS Classification December 2019 was added to IL6ST. Added phenotypes Bacterial infections, boiles, eczema, pulmonary abscesses, pneumatoceles, bone fractures, scoliosis, retention of primary teeth, craniosynostosis; Combined immunodeficiencies with associated or syndromic features for gene: IL6ST Publications for gene IL6ST were updated from 31235509 to 32048120; 31235509; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | IL6R |
Louise Daugherty Source IUIS Classification December 2019 was added to IL6R. Added phenotypes Recurrent pyogenic infections, cold abscesses, high circulating IL-6 levels; Combined immunodeficiencies with associated or syndromic features for gene: IL6R Publications for gene IL6R were updated from 31235509 to 32048120; 31235509; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | IL21 |
Louise Daugherty Source IUIS Classification December 2019 was added to IL21. Added phenotypes Severe early onset colitis, recurrent sinopulmonary infections; Immunodeficiencies affecting cellular and humoral immunity for gene: IL21 Publications for gene IL21 were updated from 24746753 to 32048120; 24746753; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | IL17F |
Louise Daugherty Source IUIS Classification December 2019 was added to IL17F. Added phenotypes CMC, folliculitis for gene: IL17F Publications for gene IL17F were updated from 21350122 to 32048120; 21350122; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | IGKC |
Louise Daugherty Source IUIS Classification December 2019 was added to IGKC. Added phenotypes Asymptomatic; Predominantly Antibody Deficiencies for gene: IGKC Publications for gene IGKC were updated from 4185453 to 32048120; 4185453; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | IFNAR2 |
Louise Daugherty Source IUIS Classification December 2019 was added to IFNAR2. Added phenotypes Severe viral infections (disseminated vaccine-strain measles, HHV6) for gene: IFNAR2 Publications for gene IFNAR2 were updated from 26424569 to 32048120; 26424569; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | ICOSLG |
Louise Daugherty Source IUIS Classification December 2019 was added to ICOSLG. Mode of inheritance for gene ICOSLG was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Recurrent bacterial and viral infections; Immunodeficiencies affecting cellular and humoral immunity for gene: ICOSLG Publications for gene ICOSLG were updated from to 32048120; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | HYOU1 |
Louise Daugherty Source IUIS Classification December 2019 was added to HYOU1. Mode of inheritance for gene HYOU1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Hypoglycemia, inflammatory complications; Congenital defects of phagocyte number or function for gene: HYOU1 Publications for gene HYOU1 were updated from to 32048120; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | FPR1 |
Louise Daugherty Source IUIS Classification December 2019 was added to FPR1. Added phenotypes Periodontitis only; Congenital defects of phagocyte number or function for gene: FPR1 Publications for gene FPR1 were updated from 10882119; 20203610; 8224916; 2910576; 28371599; 29105764 to 20203610; 29105764; 8224916; 10882119; 32048120; 28371599; 2910576; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | FCN3 |
Louise Daugherty Source IUIS Classification December 2019 was added to FCN3. Added phenotypes Respiratory infections, abscesses for gene: FCN3 Publications for gene FCN3 were updated from 19535802; 20971976; 22226667; 25662573 to 22226667; 32048120; 20971976; 19535802; 25662573; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | FCGR3A |
Louise Daugherty Source IUIS Classification December 2019 was added to FCGR3A. Added phenotypes severe herpes viral infections, particularly VZV, Epstein Barr virus (EBV), and (HPV) for gene: FCGR3A Publications for gene FCGR3A were updated from 8608639; 8874200; 23006327; 8609432 to 8874200; 23006327; 32048120; 8609432; 8608639; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | FAAP24 |
Louise Daugherty Source IUIS Classification December 2019 was added to FAAP24. Added phenotypes Diseases of Immune Dysregulation; EBV infection-driven lymphoproliferative disease for gene: FAAP24 Publications for gene FAAP24 were updated from 27473539 to 32048120; 27473539; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | DNASE1L3 |
Louise Daugherty Source IUIS Classification December 2019 was added to DNASE1L3. Added phenotypes Systemic lupus erythematosus, lupus nephritis, hypocomplementemic urticarial vasculitis; Autoinflammatory Disorders for gene: DNASE1L3 Publications for gene DNASE1L3 were updated from 22019780 to 32048120; 22019780; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | CTC1 |
Louise Daugherty Source IUIS Classification December 2019 was added to CTC1. Added phenotypes Intrauterine growth retardation, sparse graying hair, dystrophic nails, trilinear bone marrow failure, osteopenia, gastrointestinal hemorrhage due to vascular ectasia, retinal telangiectasia, intracranial calcification, abnormal telomeres; Bone marrow failure for gene: CTC1 Publications for gene CTC1 were updated from 22267198 to 32048120; 22267198; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | CLCN7 |
Louise Daugherty Source IUIS Classification December 2019 was added to CLCN7. Mode of inheritance for gene CLCN7 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Osteopetrosis with hypocalcemia, neurologic features for gene: CLCN7 Publications for gene CLCN7 were updated from to 32048120; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | CFTR |
Louise Daugherty Source IUIS Classification December 2019 was added to CFTR. Added phenotypes Respiratory infections, pancreatic insufficiency, elevated sweat chloride; Congenital defects of phagocyte number or function for gene: CFTR Publications for gene CFTR were updated from to 32048120; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | CFHR5 |
Louise Daugherty Source IUIS Classification December 2019 was added to CFHR5. Added phenotypes Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections for gene: CFHR5 Publications for gene CFHR5 were updated from 20800271; 22503529; 28673452 to 32048120; 28673452; 20800271; 22503529; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | CFHR4 |
Louise Daugherty Source IUIS Classification December 2019 was added to CFHR4. Mode of inheritance for gene CFHR4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections for gene: CFHR4 Publications for gene CFHR4 were updated from to 32048120; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | CFHR3 |
Louise Daugherty Source IUIS Classification December 2019 was added to CFHR3. Added phenotypes Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections for gene: CFHR3 Publications for gene CFHR3 were updated from to 32048120; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | CFHR2 |
Louise Daugherty Source IUIS Classification December 2019 was added to CFHR2. Mode of inheritance for gene CFHR2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections for gene: CFHR2 Publications for gene CFHR2 were updated from to 32048120; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | CFHR1 |
Louise Daugherty Source IUIS Classification December 2019 was added to CFHR1. Added phenotypes Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections for gene: CFHR1 Publications for gene CFHR1 were updated from to 32048120; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | CD8A |
Louise Daugherty Source IUIS Classification December 2019 was added to CD8A. Added phenotypes Recurrent infections, may be asymptomatic; Immunodeficiencies affecting cellular and humoral immunity for gene: CD8A Publications for gene CD8A were updated from 11435463; 17658607 to 32048120; 17658607; 11435463; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | CD81 |
Louise Daugherty Source IUIS Classification December 2019 was added to CD81. Added phenotypes Recurrent infections, may have glomerulonephritis; Predominantly Antibody Deficiencies for gene: CD81 Publications for gene CD81 were updated from 20237408; 14530327; 27250108 to 27250108; 14530327; 20237408; 32048120; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | C8G |
Louise Daugherty Source IUIS Classification December 2019 was added to C8G. Added phenotypes Disseminated neisserial infections for gene: C8G Publications for gene C8G were updated from to 32048120; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | BCL11B |
Louise Daugherty Source IUIS Classification December 2019 was added to BCL11B. Added phenotypes Congenital abnormalities, neonatal teeth, dysmorphic facies, absent corpus callosum, neurocognitive deficits; Combined immunodeficiencies with associated or syndromic features for gene: BCL11B Publications for gene BCL11B were updated from 29296816; 27959755 to 32048120; 27959755; 29296816; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | BCL10 |
Louise Daugherty Source IUIS Classification December 2019 was added to BCL10. Added phenotypes Recurrent bacterial and viral infections, candidiasis, gastroenteritis; Immunodeficiencies affecting cellular and humoral immunity for gene: BCL10 Publications for gene BCL10 were updated from 25365219 to 32048120; 25365219; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | APOL1 |
Louise Daugherty Source IUIS Classification December 2019 was added to APOL1. Mode of inheritance for gene APOL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Trypanosomiasis for gene: APOL1 Publications for gene APOL1 were updated from 25100047; 29470556; 16720107; 28537557; 15894515; 28827791; 29077717 to 28827791; 29470556; 32048120; 28537557; 16720107; 15894515; 25100047; 29077717; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | AP3D1 |
Louise Daugherty Source IUIS Classification December 2019 was added to AP3D1. Added phenotypes Oculocutaneous albinism, recurrent infections, seizures, hearing loss and neurodevelopmental delay for gene: AP3D1 Publications for gene AP3D1 were updated from 26744459 to 32048120; 26744459; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | AP1S3 |
Louise Daugherty Source IUIS Classification December 2019 was added to AP1S3. Added phenotypes Pustular psoriasis; Autoinflammatory Disorders for gene: AP1S3 Publications for gene AP1S3 were updated from to 32048120; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | ADAM17 |
Louise Daugherty Source IUIS Classification December 2019 was added to ADAM17. Added phenotypes Early onset diarrhea and skin lesions; Autoinflammatory Disorders for gene: ADAM17 Publications for gene ADAM17 were updated from 25058236; 28930861; 22010916; 25171914; 11149563; 20603312 to 22010916; 28930861; 20603312; 32048120; 25171914; 11149563; 25058236; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | ACTB |
Louise Daugherty Source IUIS Classification December 2019 was added to ACTB. Mode of inheritance for gene ACTB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Mental retardation, short stature; Congenital defects of phagocyte number or function for gene: ACTB Publications for gene ACTB were updated from 10411937 to 32048120; 10411937; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.33 | TINF2 | Louise Daugherty Phenotypes for gene: TINF2 were changed from DBone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay; Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay exudative retinopathy to Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay; Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay exudative retinopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.32 | TINF2 | Louise Daugherty Phenotypes for gene: TINF2 were changed from Dyskeratosis congenita 3; Dyskeratosis congenita; Hoyeraal-Hreidarsson syndrome; Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients; Combined immunodeficiencies with associated or syndromic features to DBone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay; Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay exudative retinopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.31 | TERT | Louise Daugherty Phenotypes for gene: TERT were changed from Dyskeratosis congenita 2 613989, Dyskeratosis congenita 4 613989; Dyskeratosis congenita; Hoyeraal-Hreidarsson syndrome; Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients; Combined immunodeficiencies with associated or syndromic features to Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay; Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay; Bone marrow failure | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.30 | RAC2 | Louise Daugherty Phenotypes for gene: RAC2 were changed from T-B- SCID; T-B+ SCID; Neutrophil immunodeficiency syndrome 608203; Neutrophil immunodeficiency syndrome; RAS-related C3 Bolutinum toxin substrate 2 deficiency (RAC2); Poor wound healing, leukocytosis; Congenital defects of phagocyte number or function to T-B- SCID; T-B+ SCID; Neutrophil immunodeficiency syndrome 608203; Neutrophil immunodeficiency syndrome; RAS-related C3 Bolutinum toxin substrate 2 deficiency (RAC2); Poor wound healing, leukocytosis; Congenital defects of phagocyte number or function; Reticular dysgenesis; Recurrent sinopulmonary infections, selective IgA defiency; poststreptococcal glomerulonephritis; urticaria | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.29 | NLRP1 | Louise Daugherty Phenotypes for gene: NLRP1 were changed from Dyskeratosis, autoimmunity and arthritis; Autoinflammatory Disorders; Autoinflammation with arthritis and dyskeratosis to Dyskeratosis, autoimmunity and arthritis; Palmoplantar carcinoma, corneal scarring; Autoinflammatory Disorders; Autoinflammation with arthritis and dyskeratosis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.28 | TINF2 | Louise Daugherty commented on gene: TINF2: OriginaI Metadata from IUIS classification table (December, 2019). IUIS Genetic defect (original gene symbol in IUIS download): TINF2. PanelApp HGNC gene symbol check: TINF2 . IUIS Disease: AD-DKC due to TINF2 deficiency . IUIS Inheritance: AD .T cells: normal to low / normal to low .B cells: normal to low / normal to low, .IUIS Other affected cells: Hematopoietic stem cell / Hematopoietic stem cell. IUIS Associated features: Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay. IUIS Major category: Bone marrow failure IUIS Subcategory: none given | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.28 | TERT | Louise Daugherty commented on gene: TERT: OriginaI Metadata from IUIS classification table (December, 2019). IUIS Genetic defect (original gene symbol in IUIS download): TERT .PanelApp HGNC gene symbol check: TERT . IUIS Disease: AD/AR-DKC due to TERT deficiency . IUIS Inheritance: AD or AR .T cells: normal to low / normal to low, .B cells: Normal to low / normal to low, .IUIS Other affected cells: Hematopoietic stem cell / Hematopoietic stem cell. IUIS Associated features: Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay / Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay. IUIS Major category: Bone marrow failure, UIS Subcategory: none given | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.28 | RAC2 | Louise Daugherty Added comment: Comment on mode of inheritance: changed MOI due to IUIS December 2019 update | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.28 | RAC2 | Louise Daugherty Mode of inheritance for gene: RAC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.27 | RAC2 | Louise Daugherty commented on gene: RAC2: Original Metadata from IUIS classification table (December, 2019). IUIS Genetic defect (original gene symbol in IUIS download): RAC2 .PanelApp HGNC gene symbol check: RAC2 . IUIS Disease: RAC2 deficiency . IUIS Inheritance: AD GOF / AR / AD LOF, T cells: Very low / no data, .B cells: Very low / no data, Immunoglobulin levels: Low / low, Neutrophil count: Low / High.IUIS Other affected cells: N. IUIS Associated features: Reticular dysgenesis / Recurrent sinopulmonary infections, selective IgA defiency; poststreptococcal glomerulonephritis; urticaria Poor wound healing, leukocytosis, IUIS Major category: TImmunodeficiencies affecting cellular and humoral immunity / Predominantly Antibody Deficiencies / Congenital defects of phagocyte number or function. IUIS Subcategory: T-B- SCID / CVID Phenotype/ Defects of Motility | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.27 | NLRP1 | Louise Daugherty commented on gene: NLRP1: Original Metadata from IUIS classification table (December, 2019). IUIS Genetic defect (original gene symbol in IUIS download): NLRP1 .PanelApp HGNC gene symbol check: NLRP1 . IUIS Disease: NLRP1 deficiency . IUIS Inheritance: AR / AD GOF .T cells: Normal / Normal, .B cells: Normal / Normal, Immunoglobulin levels: Normal / Normal, Neutrophil count: Normal / Normal IUIS Other affected cells: leukocytes / Keratinocytes. IUIS Associated features: Dyskeratosis, autoimmunity and arthritis / Palmoplantar carcinoma, corneal scarring, IUIS Major category: Autoinflammatory Disorders. IUIS Subcategory: Defects Affecting the Inflammasome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.27 | CFB | Louise Daugherty changed review comment from: OriginaI Metadata from IUIS classification table (December, 2019). IUIS Genetic defect (original gene symbol in IUIS download): CFB .PanelApp HGNC gene symbol check: CFB . IUIS Disease: Factor B . IUIS Inheritance: AD .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Atypical Hemolytic-uremic syndrome. IUIS Major category: Complement Deficiencies. IUIS Subcategory: N/A. // OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): CFB .PanelApp HGNC gene symbol check: CFB . IUIS Disease: Factor B . IUIS Inheritance: AD GOF / AR .T cells: Normal / Normal , .B cells: Normal / Normal, Immunoglobulin levels:Normal / Normal, Neutrophil count: Normal / Normal .IUIS Other affected cells: N/A. IUIS Associated features: Infections with encapsulated organisms. IUIS Major category: Complement Deficiencies. IUIS Subcategory: N/A.; to: OriginaI Metadata from IUIS classification table (December, 2019). IUIS Genetic defect (original gene symbol in IUIS download): CFB .PanelApp HGNC gene symbol check: CFB . IUIS Disease: Factor B . IUIS Inheritance: AD .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Atypical Hemolytic-uremic syndrome. IUIS Major category: Complement Deficiencies. IUIS Subcategory: N/A. // OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): CFB .PanelApp HGNC gene symbol check: CFB . IUIS Disease: Factor B . IUIS Inheritance: AD GOF / AR .T cells: Normal / Normal , .B cells: Normal / Normal, Immunoglobulin levels:Normal / Normal, Neutrophil count: Normal / Normal .IUIS Other affected cells: N/A. IUIS Associated features: Infections with encapsulated organisms. IUIS Major category: Complement Deficiencies. IUIS Subcategory: N/A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.27 | CFB | Louise Daugherty commented on gene: CFB: OriginaI Metadata from IUIS classification table (December, 2019). IUIS Genetic defect (original gene symbol in IUIS download): CFB .PanelApp HGNC gene symbol check: CFB . IUIS Disease: Factor B . IUIS Inheritance: AD .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Atypical Hemolytic-uremic syndrome. IUIS Major category: Complement Deficiencies. IUIS Subcategory: N/A. // OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): CFB .PanelApp HGNC gene symbol check: CFB . IUIS Disease: Factor B . IUIS Inheritance: AD GOF / AR .T cells: Normal / Normal , .B cells: Normal / Normal, Immunoglobulin levels:Normal / Normal, Neutrophil count: Normal / Normal .IUIS Other affected cells: N/A. IUIS Associated features: Infections with encapsulated organisms. IUIS Major category: Complement Deficiencies. IUIS Subcategory: N/A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.27 | SLC7A7 | Louise Daugherty Publications for gene: SLC7A7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.26 | SLC7A7 | Louise Daugherty Phenotypes for gene: SLC7A7 were changed from to Lysinuric protein intolerance SLC7A7 deficiency; Severe bacterial infections; Predominantly Antibody Deficiencies; Lysinuric protein intolerance, 222700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.25 | SLC7A7 | Louise Daugherty Mode of inheritance for gene: SLC7A7 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.24 | POLD2 | Louise Daugherty Publications for gene: POLD2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.23 | POLD2 | Louise Daugherty Phenotypes for gene: POLD2 were changed from to Polymerase d 2 deficiency; Recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability; Immunodeficiencies affecting cellular and humoral immunity | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.22 | POLD2 | Louise Daugherty Mode of inheritance for gene: POLD2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.21 | IL2RB | Louise Daugherty Publications for gene: IL2RB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.20 | IL2RB | Louise Daugherty Phenotypes for gene: IL2RB were changed from to CD122 deficiency; Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune hemolytic anemia, dermatitis, enteropathy, recurrent viral (EBV, CMV) infections; Immunodeficiency 63 with lymphoproliferation and autoimmunity, 618495 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.19 | IL2RB | Louise Daugherty Mode of inheritance for gene: IL2RB was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.18 | DEF6 | Louise Daugherty Publications for gene: DEF6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.17 | DEF6 | Louise Daugherty Phenotypes for gene: DEF6 were changed from to DEF6 deficiency; Enteropathy, hepatosplenomegaly, cardiomyopathy, recurrent infections; Diseases of Immune Dysregulation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.16 | DEF6 | Louise Daugherty Mode of inheritance for gene: DEF6 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.15 | SLC7A7 |
Louise Daugherty gene: SLC7A7 was added gene: SLC7A7 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: SLC7A7 was set to |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.15 | POLD2 |
Louise Daugherty gene: POLD2 was added gene: POLD2 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: POLD2 was set to |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.15 | IL2RB |
Louise Daugherty gene: IL2RB was added gene: IL2RB was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: IL2RB was set to |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.15 | DEF6 |
Louise Daugherty gene: DEF6 was added gene: DEF6 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: DEF6 was set to |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.14 | TGFB1 |
Louise Daugherty gene: TGFB1 was added gene: TGFB1 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: TGFB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TGFB1 were set to 32048120; 32086639 Phenotypes for gene: TGFB1 were set to Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213; IBD, immunodeficiency, recurrent viral infections, microcephaly, and encephalopathy; Diseases of Immune Dysregulation; TGFB1 deficiency |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.14 | PSMG2 |
Louise Daugherty gene: PSMG2 was added gene: PSMG2 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: PSMG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSMG2 were set to 32048120; 32086639 Phenotypes for gene: PSMG2 were set to CANDLE (chronic atypical neutrophilic dermatitis with lipodystrophy); Panniculitis, lipodystrophy, autoimmune hemolytic anemia; Autoinflammatory Disorders |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.14 | NFE2L2 |
Louise Daugherty gene: NFE2L2 was added gene: NFE2L2 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: NFE2L2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NFE2L2 were set to 32048120; 32086639 Phenotypes for gene: NFE2L2 were set to white matter cerebral lesions, increased level of homocysteine; Recurrent respiratory and skin infections, growth retardation, , developmental delay; Immunodeficiency, developmental delay, and hypohomocysteinemia, 617744; NFE2L2 GOF; increased expression of stress response genes; Combined immunodeficiencies with associated or syndromic features |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.14 | FCHO1 |
Louise Daugherty gene: FCHO1 was added gene: FCHO1 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: FCHO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FCHO1 were set to 32048120; 32086639 Phenotypes for gene: FCHO1 were set to Recurrent infections, lymphoproliferation, increased activation-induced T-cell death, defective clathrin-mediated endocytosis; FCHO1 deficiency; Immunodeficiencies affecting cellular and humoral immunity |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.13 | SH3KBP1 |
Louise Daugherty gene: SH3KBP1 was added gene: SH3KBP1 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: SH3KBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SH3KBP1 were set to 32048120; 32086639 Phenotypes for gene: SH3KBP1 were set to SH3KBP1 (CIN85) deficiency; Severe bacterial infections; Predominantly Antibody Deficiencies; Immunodeficiency 61, 300310 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.13 | SEC61A1 |
Louise Daugherty gene: SEC61A1 was added gene: SEC61A1 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: SEC61A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SEC61A1 were set to 32048120; 32086639 Phenotypes for gene: SEC61A1 were set to SEC61A1 deficiency; Severe recurrent respiratory tract infections; Hyperuricemic nephropathy, familial juvenile, 4, 617056; Predominantly Antibody Deficiencies |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.13 | RELA |
Louise Daugherty gene: RELA was added gene: RELA was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: RELA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RELA were set to 32048120; 32086639 Phenotypes for gene: RELA were set to Mucocutaneous ulceration, chronic, 618287; RelA haplosufficiency; Mucosal ulceration, impaired NFkB activation; Immunodeficiencies affecting cellular and humoral immunity |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.13 | REL |
Louise Daugherty gene: REL was added gene: REL was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: REL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: REL were set to 32048120; 32086639 Phenotypes for gene: REL were set to Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic infections; c-Rel deficiency; Immunodeficiencies affecting cellular and humoral immunity |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.13 | POLD1 |
Louise Daugherty gene: POLD1 was added gene: POLD1 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: POLD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLD1 were set to 32048120; 32086639 Phenotypes for gene: POLD1 were set to Recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability; Polymerase d 1 deficiency; Immunodeficiencies affecting cellular and humoral immunity |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.13 | OAS1 |
Louise Daugherty gene: OAS1 was added gene: OAS1 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: OAS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: OAS1 were set to 32048120; 32086639 Phenotypes for gene: OAS1 were set to Autoinflammatory Disorders; Pulmonary alveolar proteinosis, skin rash; OAS1 GOF |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.13 | FERMT1 |
Louise Daugherty gene: FERMT1 was added gene: FERMT1 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: FERMT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FERMT1 were set to 32048120; 32086639 Phenotypes for gene: FERMT1 were set to Kindler syndrome, 173650; FERMT1 deficiency (Kindler syndrome); Diseases of Immune Dysregulation; Dermatosis characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.13 | TGFBR1 |
Louise Daugherty gene: TGFBR1 was added gene: TGFBR1 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TGFBR1 were set to 32048120; 32086639 Phenotypes for gene: TGFBR1 were set to Recurrent respiratory infectons, eczema, food allergies, hyperextensible joints, scoliosis, retention of primary teeths, aortic anuerysms; Loeys Dietz syndrome due to TGFBR1 deficiency; Loeys-Dietz syndrome 1, 609192; Combined immunodeficiencies with associated or syndromic features |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.13 | TGFBR2 |
Louise Daugherty gene: TGFBR2 was added gene: TGFBR2 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TGFBR2 were set to 32048120; 32086639 Phenotypes for gene: TGFBR2 were set to Recurrent respiratory infections, eczema, food allergies, hyperextensible joints, scoliosis, retention of primary teeths, aortic anuerysms; ALPS-FAS; Combined immunodeficiencies with associated or syndromic features |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.13 | TNFRSF9 |
Louise Daugherty gene: TNFRSF9 was added gene: TNFRSF9 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: TNFRSF9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNFRSF9 were set to 32048120; 32086639 Phenotypes for gene: TNFRSF9 were set to CD137 deficiency (41BB); EBV lymphoproliferation, B-cell lymphoma |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.13 | TRIM22 |
Louise Daugherty gene: TRIM22 was added gene: TRIM22 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: TRIM22 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIM22 were set to 32048120; 32086639 Phenotypes for gene: TRIM22 were set to Autoinflammatory Disorders; Granulomatous colitis; Diseases of Immune Dysregulation; TRIM22 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.13 | TOP2B |
Louise Daugherty gene: TOP2B was added gene: TOP2B was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: TOP2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TOP2B were set to 32048120; 32086639 Phenotypes for gene: TOP2B were set to Recurrent infections, facial dysmorphism, limb anomalies; Predominantly Antibody Deficiencies; Hoffman syndrome/TOP2B deficiency |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.12 | PIK3CD | Louise Daugherty Publications for gene: PIK3CD were set to 24165795; 24136356 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 | ERBIN | Louise Daugherty commented on gene: ERBIN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 | ERBIN | Louise Daugherty Tag new-gene-name tag was added to gene: ERBIN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 | C17orf62 | Louise Daugherty commented on gene: C17orf62 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 | C17orf62 | Louise Daugherty Tag new-gene-name tag was added to gene: C17orf62. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genodermatoses with malignancies v1.6 | PTCH2 | Zornitza Stark reviewed gene: PTCH2: Rating: RED; Mode of pathogenicity: None; Publications: 30820324; Phenotypes: Basal cell nevus syndrome, 109400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v1.4 | ST14 | Rachel Jones reviewed gene: ST14: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18843291, 29611532; Phenotypes: Ichthyosis, congenital, autosomal recessive 11; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v1.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v1.33 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v1.32 | Catherine Snow Panel types changed to Rare Disease 100K; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.3 | CSGALNACT1 |
Tracy Lester gene: CSGALNACT1 was added gene: CSGALNACT1 was added to Skeletal dysplasia. Sources: Expert Review Mode of inheritance for gene: CSGALNACT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSGALNACT1 were set to 27599773; 31325655 Phenotypes for gene: CSGALNACT1 were set to Desbuquois dysplasia with mild joint laxity; non-proportionate short stature Added comment: Desbuquois dysplasia with mild joint laxity - 2 cases reported plus a mouse model that recapitulates the phenotype: green gene for skeletal dysplasia panel Sources: Expert Review |
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| Neurological ciliopathies v1.4 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological segmental overgrowth v1.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological segmental overgrowth v1.2 | Catherine Snow Panel types changed to Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v2.4 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric motor neuronopathies v1.29 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric motor neuronopathies v1.28 | Catherine Snow Panel types changed to Rare Disease 100K; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | SPEG | Zornitza Stark reviewed gene: SPEG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Centronuclear myopathy 5, OMIM #615959; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.2 | Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | SPAG1 | Zornitza Stark reviewed gene: SPAG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 28, MIM# 615505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | SOX17 | Zornitza Stark reviewed gene: SOX17: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Vesicoureteral reflux 3, MIM# 613674; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v1.3 | Rebecca Foulger Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v1.2 | Rebecca Foulger Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.4 | CEP85L |
Zornitza Stark gene: CEP85L was added gene: CEP85L was added to Malformations of cortical development. Sources: Literature Mode of inheritance for gene: CEP85L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CEP85L were set to 32097630 Phenotypes for gene: CEP85L were set to Lissencephaly, posterior predominant Review for gene: CEP85L was set to GREEN Added comment: Thirteen individuals reported with mono allelic variants in this gene, inherited in two of the families. Mouse model had neuronal migration defects. Sources: Literature |
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| Intellectual disability v3.3 | RASA1 | Zornitza Stark reviewed gene: RASA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Capillary malformation-arteriovenous malformation 1, MIM# 608354; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v1.1 | COX4I2 | Zornitza Stark reviewed gene: COX4I2: Rating: RED; Mode of pathogenicity: None; Publications: 19268275, 22730437; Phenotypes: Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, MIM#612714; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | SNX27 | Zornitza Stark reviewed gene: SNX27: Rating: GREEN; Mode of pathogenicity: None; Publications: 25894286, 31721175, 21300787, 23524343; Phenotypes: intellectual disability, seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.3 | SNIP1 | Zornitza Stark reviewed gene: SNIP1: Rating: RED; Mode of pathogenicity: None; Publications: 22279524; Phenotypes: Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.3 | SMG9 | Zornitza Stark reviewed gene: SMG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 27018474, 31390136; Phenotypes: Heart and brain malformation syndrome, MIM# 616920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | SMG8 |
Zornitza Stark gene: SMG8 was added gene: SMG8 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: SMG8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMG8 were set to 31130284 Phenotypes for gene: SMG8 were set to Intellectual disability Review for gene: SMG8 was set to AMBER Added comment: Two unrelated families, no functional data. Sources: Expert list |
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| Intellectual disability v3.3 | SMCHD1 | Zornitza Stark reviewed gene: SMCHD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bosma arhinia microphthalmia syndrome, OMIM #603457, Fascioscapulohumeral muscular dystrophy 2, digenic, OMIM #158901; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 | HAVCR2 |
Louise Daugherty gene: HAVCR2 was added gene: HAVCR2 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: HAVCR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HAVCR2 were set to 32086639; 32048120 Phenotypes for gene: HAVCR2 were set to Tim-3 deficiency; T-cell lymphoma, subcutaneous panniculitis-like, HLH; T-cell lymphoma, subcutaneous panniculitis-like, 618398; Autoinflammatory Disorders |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 | FANCM |
Louise Daugherty gene: FANCM was added gene: FANCM was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: FANCM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCM were set to 32086639; 32048120 Phenotypes for gene: FANCM were set to Bone marrow failure; Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage; Fanconi Anemia Type M |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 | FANCI |
Louise Daugherty gene: FANCI was added gene: FANCI was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCI were set to 32086639; 32048120 Phenotypes for gene: FANCI were set to Fanconi anemia, complementation group I, 609053; Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage; Fanconi Anemia Type I; Bone marrow failure |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 | FANCF |
Louise Daugherty gene: FANCF was added gene: FANCF was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCF were set to 32086639; 32048120 Phenotypes for gene: FANCF were set to Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage; Fanconi Anemia Type F; Fanconi anemia, complementation group F, 603467; Bone marrow failure |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 | ERCC4 |
Louise Daugherty gene: ERCC4 was added gene: ERCC4 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC4 were set to 32086639; 32048120 Phenotypes for gene: ERCC4 were set to Fanconi anemia, complementation group Q, 615272; Bone marrow failure; Fanconi Anemia Type Q; Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 | ERBIN |
Louise Daugherty gene: ERBIN was added gene: ERBIN was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: ERBIN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ERBIN were set to 32086639; 32048120 Phenotypes for gene: ERBIN were set to ERBIN deficiency; Combined immunodeficiencies with associated or syndromic features; Recurrent respiratory infections, susceptibility to S. aureus, eczema, hyperextensible joints, scoliosis, arterial dilatation in some |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 | DBR1 |
Louise Daugherty gene: DBR1 was added gene: DBR1 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: DBR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DBR1 were set to 32086639; 32048120 Phenotypes for gene: DBR1 were set to DBR1 deficiency; Defects in intrinsic and innate immunity; HSE of the brainstem. Other viral infections of the brainstem |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 | C17orf62 |
Louise Daugherty gene: C17orf62 was added gene: C17orf62 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: C17orf62 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C17orf62 were set to 32086639; 32048120 Phenotypes for gene: C17orf62 were set to Autosomal recessive CGD EROS; Congenital defects of phagocyte number or function |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 | BRCA2 |
Louise Daugherty gene: BRCA2 was added gene: BRCA2 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BRCA2 were set to 32086639; 32048120 Phenotypes for gene: BRCA2 were set to Fanconi anemia, complementation group D1, 605724; Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage; Bone marrow failure; Fanconi Anemia Type D1 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 | BRCA1 |
Louise Daugherty gene: BRCA1 was added gene: BRCA1 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: BRCA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BRCA1 were set to 32086639; 32048120 Phenotypes for gene: BRCA1 were set to Fanconi anemia, complementation group S, 617883; normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage; Bone marrow failure; Fanconi Anemia Type S |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 | ARHGEF1 |
Louise Daugherty gene: ARHGEF1 was added gene: ARHGEF1 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: ARHGEF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARHGEF1 were set to 32086639; 32048120 Phenotypes for gene: ARHGEF1 were set to Predominantly Antibody Deficiencies; Recurrent infections, bronchiectasis; Immunodeficiency 62, 618459; ARHGEF1 deficiency |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 | ALPI |
Louise Daugherty gene: ALPI was added gene: ALPI was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: ALPI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALPI were set to 32086639; 32048120 Phenotypes for gene: ALPI were set to Autoinflammatory Disorders; ALPI deficiency; Inflammatory bowel disease |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.10 | ZNF341 | Louise Daugherty Classified gene: ZNF341 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.10 | ZNF341 | Louise Daugherty Added comment: Comment on list classification: New gene added for review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.10 | ZNF341 | Louise Daugherty Gene: znf341 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.9 | SNORA31 | Louise Daugherty Classified gene: SNORA31 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.9 | SNORA31 | Louise Daugherty Added comment: Comment on list classification: New gene added for review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.9 | SNORA31 | Louise Daugherty Gene: snora31 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.8 | SLC39A7 | Louise Daugherty Classified gene: SLC39A7 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.8 | SLC39A7 | Louise Daugherty Added comment: Comment on list classification: New gene added for review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.8 | SLC39A7 | Louise Daugherty Gene: slc39a7 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.7 | RC3H1 | Louise Daugherty Classified gene: RC3H1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.7 | RC3H1 | Louise Daugherty Added comment: Comment on list classification: New gene for review. Single case recommend further discussion, suggest Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.7 | RC3H1 | Louise Daugherty Gene: rc3h1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.6 | PSMB10 | Louise Daugherty Classified gene: PSMB10 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.6 | PSMB10 | Louise Daugherty Added comment: Comment on list classification: New gene for review. Single case recommend Red rating | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.6 | PSMB10 | Louise Daugherty Gene: psmb10 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.5 | IL6ST | Louise Daugherty Classified gene: IL6ST as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.5 | IL6ST | Louise Daugherty Added comment: Comment on list classification: New gene added for review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.5 | IL6ST | Louise Daugherty Gene: il6st has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.4 | IL6R | Louise Daugherty Classified gene: IL6R as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.4 | IL6R | Louise Daugherty Added comment: Comment on list classification: New gene added for review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.4 | IL6R | Louise Daugherty Gene: il6r has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.3 | DDC |
Lothar Schlueter gene: DDC was added gene: DDC was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDC were set to 28100251; 30952622; 20505134; 19172410 Phenotypes for gene: DDC were set to Aromatic L-amino acid decarboxylase deficiency 608643; floppy child; dystonia; hypotonia; developmental delay; oculogyric crisis Review for gene: DDC was set to GREEN Added comment: Seizures are not a key symptom for aromatic L-amino acid decarboxylase deficiency (AADCD). However, some patients have seizures. Oculogyric crises, which are a key symptom, could be mistaken for epileptic seizures. In the review paper of Wassenberg et al. (2017) about 8% of AADCD patients suffer from seizures (9/117). Manegold et al. (2009) found 3 patients with seizures and corresponding EEG abnormalities in a cohort of 9 patients. They also point out, that it was difficult to discriminate seizures from oculogyric crises and paroxysmal dystonia. Another review by Brun et al. (2010) mentions abnormal EEG in 10 out of 78 patients without further detail about seizures. Sources: Literature |
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| Intellectual disability v3.3 | DDC | Lothar Schlueter reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: None; Publications: 28100251, 30952622, 30689738, 25597765, 24788355; Phenotypes: Aromatic L-amino acid decarboxylase deficiency 608643, floppy child, dystonia, hypotonia, developmental delay, oculogyric crisis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v2.4 | DDC | Lothar Schlueter reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: None; Publications: 28100251, 30952622; Phenotypes: Aromatic L-amino acid decarboxylase deficiency 608643, floppy child, dystonia, hypotonia, developmental delay, oculogyric crisis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.413 | DDC | Lothar Schlueter reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: None; Publications: 28100251, 30952622; Phenotypes: Aromatic L-amino acid decarboxylase deficiency 608643, floppy child, dystonia, hypotonia, developmental delay, oculogyric crisis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v1.3 | DDC | Lothar Schlueter reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: None; Publications: 28100251, 30952622; Phenotypes: Aromatic L-amino acid decarboxylase deficiency 608643, floppy child, dystonia, hypotonia, developmental delay, oculogyric crisis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset dystonia v1.81 | DDC | Lothar Schlueter reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: None; Publications: 28100251, 30952622; Phenotypes: Aromatic L-amino acid decarboxylase deficiency 608643, floppy child, dystonia, hypotonia, developmental delay, oculogyric crisis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurotransmitter disorders v1.4 | DDC | Lothar Schlueter reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: None; Publications: 28100251, 30952622; Phenotypes: Aromatic L-amino acid decarboxylase deficiency 608643, floppy child, dystonia, hypotonia, developmental delay, oculogyric crisis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v1.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.8 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.4 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.3 | Catherine Snow Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.3 | Ivone Leong Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.4 | Ivone Leong Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.3 | Ivone Leong Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v2.3 | Ivone Leong Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hyperinsulinism v2.4 | Ivone Leong Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hyperinsulinism v2.3 | Ivone Leong Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Segmental overgrowth disorders - Deep sequencing v2.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.3 | Louise Daugherty Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.6 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.2 | Catherine Snow Panel types changed to Rare Disease 100K; GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.23 | KMT2D |
Julia Baptista changed review comment from: One Irish male reported with a de novo KMT2A variant and bilateral extreme microphthalmia (PMID: 26049589). An additional proband was reported with bilateral microphthalmia (PMID: 27530281). Sources: Literature; to: One Irish male reported with a de novo KMT2D variant and bilateral extreme microphthalmia (PMID: 26049589). An additional proband was reported with bilateral microphthalmia (PMID: 27530281). Sources: Literature |
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.3 | SMN1 | Ian Berry reviewed gene: SMN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.3 | NPR3 |
Ian Berry gene: NPR3 was added gene: NPR3 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: NPR3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPR3 were set to PMID: 30032985; 10468599 Phenotypes for gene: NPR3 were set to Tall stature; arachnodactyly; extra epiphyses; aortic dilatation Penetrance for gene: NPR3 were set to unknown Review for gene: NPR3 was set to GREEN gene: NPR3 was marked as current diagnostic Added comment: 4 individuals in 3 families reported with striking phenotypic similarity. Functional evidence compelling. Mouse model recapitulates phenotype (including skeletal features). Sources: Literature |
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| Stickler syndrome v2.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes v2.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v2.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v2.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v2.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic polymorphic VT v2.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital adrenal hypoplasia v2.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic right ventricular cardiomyopathy v2.5 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.5 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v1.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ophthalmological ciliopathies v1.4 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal dystrophy v1.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polycystic liver disease v1.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v1.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Endocrine neoplasia v1.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary pigmented nodular adrenocortical disease v1.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v1.6 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - Deep sequencing v1.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular skin disorders v1.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermodysplasia verruciformis v1.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cutaneous photosensitivity with a likely genetic cause v1.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v1.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple monogenic benign skin tumours v1.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autosomal recessive primary hypertrophic osteoarthropathy v1.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratodermas v1.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v1.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v1.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v1.4 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumoral calcinosis v1.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | SLC9A7 |
Zornitza Stark gene: SLC9A7 was added gene: SLC9A7 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: SLC9A7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SLC9A7 were set to 30335141 Phenotypes for gene: SLC9A7 were set to Intellectual developmental disorder, X-linked 108; OMIM #301024 Review for gene: SLC9A7 was set to AMBER Added comment: 6 males from 2 unrelated families with hemizygous missense mutation in the SLC9A7 gene. The mutation segregated with the disorder in the family. In vitro functional expression studies in CHO cells (AP-1 cells) showed that the mutation caused decreased levels of protein expression and reduced oligosaccharide maturation/glycosylation compared to wildtype, indicating impaired posttranslational processing. Subcellular localization studies indicated that protein trafficking was unaffected by the mutation. However, examination of the trans-Golgi compartment suggested a gain-of-function effect and a perturbation of glycosylation of secretory cargo. Serum transferrin studies in 1 patient suggested a glycosylation defect. One to watch. Sources: Expert list |
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| Severe insulin resistance and lipodystrophy syndromes v2.5 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe insulin resistance and lipodystrophy syndromes v2.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v2.3 | Rebecca Foulger Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v2.2 | Rebecca Foulger Panel types changed to Rare Disease 100K; GMS Rare Disease; GMS Cancer Germline Virtual; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v1.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v2.3 | Rebecca Foulger Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.3 | Rebecca Foulger Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v1.3 | Rebecca Foulger Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v2.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v1.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Glycogen storage disease v1.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial Chylomicronaemia Syndrome v1.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | SLC1A1 |
Zornitza Stark gene: SLC1A1 was added gene: SLC1A1 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: SLC1A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC1A1 were set to Dicarboxylic aminoaciduria, MIM#222730 Review for gene: SLC1A1 was set to GREEN gene: SLC1A1 was marked as current diagnostic Added comment: ID is part of the phenotype of this metabolic disorder. Sources: Expert list |
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| Intellectual disability v3.3 | SKIV2L | Zornitza Stark reviewed gene: SKIV2L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Trichohepatoenteric syndrome 2, MIM# 614602; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | SIX5 | Zornitza Stark reviewed gene: SIX5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Branchiootorenal syndrome 2 610896; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | SIX1 | Zornitza Stark reviewed gene: SIX1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Branchiootic syndrome 3, MIM# 608389, Deafness, autosomal dominant 23, MIM# 605192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neuronal ceroid lipofuscinosis v1.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v1.14 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex V deficiency v1.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex IV deficiency v1.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex III deficiency v1.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex II deficiency v1.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex I deficiency v1.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial DNA maintenance disorder v1.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease v1.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pyruvate dehydrogenase (PDH) deficiency v1.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia (GMS) v1.3 | Rebecca Foulger Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia (GMS) v1.2 | Rebecca Foulger Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.3 | Rebecca Foulger Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome and cardiac sodium channel disease v2.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v2.4 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | SH3PXD2B | Zornitza Stark reviewed gene: SH3PXD2B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Frank-ter Haar syndrome, MIM# 249420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | SFXN4 |
Zornitza Stark gene: SFXN4 was added gene: SFXN4 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: SFXN4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SFXN4 were set to 31059822; 24119684 Phenotypes for gene: SFXN4 were set to Combined oxidative phosphorylation deficiency 18, MIM#615578 Review for gene: SFXN4 was set to GREEN gene: SFXN4 was marked as current diagnostic Added comment: Three unrelated families reported, mild ID as well as other neurological features are part of the phenotype. Sources: Expert list |
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| Intellectual disability v3.3 | SEC31A |
Zornitza Stark gene: SEC31A was added gene: SEC31A was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: SEC31A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SEC31A were set to 30464055 Phenotypes for gene: SEC31A were set to Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, OMIM #618651 Review for gene: SEC31A was set to AMBER Added comment: Single family with two affected sibs with functional data (drosophila), one to watch. Sources: Expert list |
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| Intellectual disability v3.3 | SEC23B | Zornitza Stark reviewed gene: SEC23B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Cowden syndrome 7 616858, Dyserythropoietic anemia, congenital, type II 224100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | SCN1B | Zornitza Stark reviewed gene: SCN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 52, MIM#617350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | SCN11A | Zornitza Stark reviewed gene: SCN11A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VII, MIM#615548; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | SCARF2 | Zornitza Stark reviewed gene: SCARF2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Van den Ende-Gupta syndrome, MIM# 600920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | SCAMP5 | Zornitza Stark reviewed gene: SCAMP5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31439720; Phenotypes: Intellectual disability, seizures, autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | SBF1 |
Zornitza Stark gene: SBF1 was added gene: SBF1 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: SBF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SBF1 were set to 24799518; 23749797; 30039846; 28902413 Phenotypes for gene: SBF1 were set to Charcot-Marie-Tooth disease, type 4B3, MIM# 615284 Review for gene: SBF1 was set to GREEN Added comment: At least 4 families with multiple affected individuals described. Some have had central features including microcephaly and DD/ID, it is likely this gene causes a mixed picture. Sources: Expert list |
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| Intellectual disability v3.3 | SBDS | Zornitza Stark reviewed gene: SBDS: Rating: RED; Mode of pathogenicity: None; Publications: 19906387; Phenotypes: Shwachman-Diamond syndrome, MIM#260400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | SARS2 |
Zornitza Stark gene: SARS2 was added gene: SARS2 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: SARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SARS2 were set to 21255763; 24034276 Phenotypes for gene: SARS2 were set to Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, MIM#613845 Review for gene: SARS2 was set to GREEN gene: SARS2 was marked as current diagnostic Added comment: DD/ID is part of the phenotype. Two unrelated families reported, highly specific phenotype. Sources: Expert list |
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| Intellectual disability v3.3 | SALL4 | Zornitza Stark reviewed gene: SALL4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Duane-radial ray syndrome, MIM# 607323; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | SOX3 | Zornitza Stark reviewed gene: SOX3: Rating: AMBER; Mode of pathogenicity: None; Publications: 29175558, 30125608, 12428212, 15800844; Phenotypes: Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123, Panhypopituitarism, X-linked, MIM#312000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.3 | TBXAS1 | Tracy Lester edited their review of gene: TBXAS1: Added comment: Variants in the AD form are associated with a bleeding disorder - no evidence of skeletal dysplasia in these patients. Mode of inheritance should just be biallelic for the skeletal dysplasia panel.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hyperinsulinism v2.1 | UCP2 |
Zornitza Stark gene: UCP2 was added gene: UCP2 was added to Congenital hyperinsulinism. Sources: Expert list Mode of inheritance for gene: UCP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UCP2 were set to 19065272 Phenotypes for gene: UCP2 were set to Hyperinsulinism Review for gene: UCP2 was set to AMBER Added comment: Two children reported with variants in this gene; however, these were inherited. Functional data (mouse model). Sources: Expert list |
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| Congenital hyperinsulinism v2.1 | NSD1 |
Zornitza Stark gene: NSD1 was added gene: NSD1 was added to Congenital hyperinsulinism. Sources: Expert list Mode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NSD1 were set to 30719864 Phenotypes for gene: NSD1 were set to Sotos syndrome (OMIM#117550) Review for gene: NSD1 was set to GREEN gene: NSD1 was marked as current diagnostic Added comment: Hyperinsulinism is a documented feature of this syndrome: at least 9 individuals with NSD1 variants and hyperinsulinism reported; persistent in 3/9/ Sources: Expert list |
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| Congenital hyperinsulinism v2.1 | GPC3 | Zornitza Stark reviewed gene: GPC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Simpson-Golabi-Behmel syndrome, type 1 312870; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hyperinsulinism v2.1 | AKT2 | Zornitza Stark reviewed gene: AKT2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | PUM1 | Zornitza Stark reviewed gene: PUM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29474920, 25768905; Phenotypes: Spinocerebellar ataxia 47, MIM#617931; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | PSAT1 | Zornitza Stark reviewed gene: PSAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26960553, 17436247, 25152457; Phenotypes: Phosphoserine aminotransferase deficiency, MIM# 610992, Neu-Laxova syndrome 2, MIM# 616038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | PRSS56 | Zornitza Stark reviewed gene: PRSS56: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Microphthalmia, isolated 6, MIM# 613517; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | PROP1 | Zornitza Stark reviewed gene: PROP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 2, MIM# 262600; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | PRKAR1A | Zornitza Stark reviewed gene: PRKAR1A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Acrodysostosis 1, with or without hormone resistance, MIM# 101800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | PRDM12 | Zornitza Stark reviewed gene: PRDM12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | PPP1R12A |
Zornitza Stark gene: PPP1R12A was added gene: PPP1R12A was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: PPP1R12A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PPP1R12A were set to 31883643 Phenotypes for gene: PPP1R12A were set to Intellectual disability; holoprosencephaly; disorder of sex development Review for gene: PPP1R12A was set to GREEN gene: PPP1R12A was marked as current diagnostic Added comment: 12 individuals reported. Sources: Expert list |
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| Intellectual disability v3.3 | PPA2 | Zornitza Stark reviewed gene: PPA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sudden cardiac failure, infantile, MIM# 617222; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common craniosynostosis syndromes v1.3 | Eleanor Williams Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v1.3 | Eleanor Williams Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v1.2 | Eleanor Williams Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v2.3 | Eleanor Williams Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.3 | Eleanor Williams Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | Rebecca Foulger Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.3 | Rebecca Foulger Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v2.4 | Eleanor Williams Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v2.3 | Eleanor Williams Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v2.2 | Eleanor Williams Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.3 | Rebecca Foulger Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v2.3 | Eleanor Williams Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v2.2 | Eleanor Williams Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.3 | Eleanor Williams Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.3 | Eleanor Williams Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.2 | Eleanor Williams Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.3 | Rebecca Foulger Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.2 | Rebecca Foulger Panel types changed to GMS Rare Disease; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.3 | Eleanor Williams Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.2 | Eleanor Williams Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.5 | Eleanor Williams Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.6 | Eleanor Williams Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.3 | Eleanor Williams Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.2 | Rebecca Foulger Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1 | POMK |
Zornitza Stark gene: POMK was added gene: POMK was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POMK were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM# 615249 Review for gene: POMK was set to GREEN gene: POMK was marked as current diagnostic Added comment: ID is part of the phenotype. Sources: Expert list |
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| Intellectual disability v3.1 | POLR1D | Zornitza Stark reviewed gene: POLR1D: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Treacher Collins syndrome 2, MIM# 613717; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1 | POLR1C | Zornitza Stark reviewed gene: POLR1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 26151409; Phenotypes: Leukodystrophy, hypomyelinating, 11, MIM# 616494; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1 | POLD1 | Zornitza Stark reviewed gene: POLD1: Rating: RED; Mode of pathogenicity: None; Publications: 31449058; Phenotypes: Intellectual disability, immunodeficiency, Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM#615381; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1 | POC1B | Zornitza Stark reviewed gene: POC1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cone-rod dystrophy 20 615973; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1 | PNPT1 | Zornitza Stark reviewed gene: PNPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 13, MIM#614932; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1 | PMS2 | Zornitza Stark reviewed gene: PMS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mismatch repair cancer syndrome, MIM# 276300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1 | PLOD2 | Zornitza Stark reviewed gene: PLOD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bruck syndrome 2 609220; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | PKHD1 | Zornitza Stark reviewed gene: PKHD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 4, with or without hepatic disease 263200; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | PKD1L1 | Zornitza Stark reviewed gene: PKD1L1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Heterotaxy, visceral, 8, autosomal, MIM# 617205; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | PITX3 | Zornitza Stark reviewed gene: PITX3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250, cataract; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | PITX2 | Zornitza Stark reviewed gene: PITX2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Axenfeld-Rieger syndrome, type 1, MIM# 180500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | PISD |
Zornitza Stark gene: PISD was added gene: PISD was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: PISD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PISD were set to 31263216; 30858161 Phenotypes for gene: PISD were set to intellectual disability; cataract; microcephaly; deafness; skeletal dysplasia Review for gene: PISD was set to GREEN Added comment: Three unrelated families reported. Sources: Expert list |
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| Intellectual disability v3.0 | PIK3R1 | Zornitza Stark reviewed gene: PIK3R1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: SHORT syndrome, MIM#269880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | PIK3C2A | Zornitza Stark reviewed gene: PIK3C2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 31034465; Phenotypes: Oculoskeletodental syndrome, 618440; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | PIGS |
Zornitza Stark gene: PIGS was added gene: PIGS was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: PIGS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGS were set to 30269814 Phenotypes for gene: PIGS were set to Glycosylphosphatidylinositol biosynthesis defect 18, MIM# 618143 Review for gene: PIGS was set to GREEN gene: PIGS was marked as current diagnostic Added comment: Three unrelated families reported. Severe neurological phenotype ranging from fetal akinesia to ID/EE. Sources: Expert list |
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| Paediatric disorders - additional genes v1.1 | Rebecca Foulger Panel types changed to GMS Rare Disease; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | PIGH | Zornitza Stark edited their review of gene: PIGH: Added comment: I note this gene is Green on the epilepsy panel, and I agree this family of genes cause similar phenotypes, there is some functional data to support the gene-disease relationship, so we have rated it Green on both panels.; Changed rating: GREEN; Changed publications: 29573052, 29603516 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v1.2 | PIBF1 | Zornitza Stark reviewed gene: PIBF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26167768, 30858804, 29695797; Phenotypes: Joubert syndrome 33, OMIM #617767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | PIBF1 |
Zornitza Stark gene: PIBF1 was added gene: PIBF1 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIBF1 were set to 26167768; 30858804; 29695797 Phenotypes for gene: PIBF1 were set to Joubert syndrome 33; OMIM #617767 Review for gene: PIBF1 was set to GREEN gene: PIBF1 was marked as current diagnostic Added comment: 7 families altogether: 3 of these are Hutterite and share the same founder variant. Sources: Expert list |
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| Intellectual disability v3.0 | PGM1 | Zornitza Stark reviewed gene: PGM1: Rating: RED; Mode of pathogenicity: None; Publications: 24499211; Phenotypes: Congenital disorder of glycosylation, type It, MIM# 614921; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | PET100 | Zornitza Stark reviewed gene: PET100: Rating: GREEN; Mode of pathogenicity: None; Publications: 24462369, 25293719, 31406627; Phenotypes: Mitochondrial complex IV deficiency, MIM# 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | PDP1 |
Zornitza Stark gene: PDP1 was added gene: PDP1 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: PDP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDP1 were set to 19184109; 15855260; 31392110 Phenotypes for gene: PDP1 were set to Pyruvate dehydrogenase phosphatase deficiency, MIM#608782 Review for gene: PDP1 was set to GREEN gene: PDP1 was marked as current diagnostic Added comment: DD/ID is part of the phenotype of this metabolic condition. Sources: Expert list |
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| Intellectual disability v3.0 | PDHB |
Zornitza Stark gene: PDHB was added gene: PDHB was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: PDHB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDHB were set to 15138885; 26014431 Phenotypes for gene: PDHB were set to Pyruvate dehydrogenase E1-beta deficiency, MIM#614111 Review for gene: PDHB was set to GREEN gene: PDHB was marked as current diagnostic Added comment: DD/ID is a feature of this metabolic disorder. Sources: Expert list |
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| Intellectual disability v3.0 | PDE6G | Zornitza Stark reviewed gene: PDE6G: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 57 613582; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | PDE10A |
Zornitza Stark gene: PDE10A was added gene: PDE10A was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: PDE10A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDE10A were set to 27058446 Phenotypes for gene: PDE10A were set to Dyskinesia, limb and orofacial, infantile-onset, MIM#616921 Review for gene: PDE10A was set to GREEN gene: PDE10A was marked as current diagnostic Added comment: Two unrelated families and functional data (animal model). Note that allelic disorder, Striatal degeneration, autosomal dominant, MIM#616922, is caused by heterozygous variants and ID is not part of the phenotype. Sources: Expert list |
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| Intellectual disability v3.0 | PAX9 | Zornitza Stark reviewed gene: PAX9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Tooth agenesis, selective, 3 604625; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | PAX3 | Zornitza Stark reviewed gene: PAX3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniofacial-deafness-hand syndrome, MIM#122880, Waardenburg syndrome, type 1, MIM#193500, Waardenburg syndrome, type 3, MIM#148820; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | PAPSS2 | Zornitza Stark reviewed gene: PAPSS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Brachyolmia 4 with mild epiphyseal and metaphyseal changes, MIM# 612847; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | PAM16 |
Zornitza Stark gene: PAM16 was added gene: PAM16 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: PAM16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAM16 were set to 24786642; 27354339 Phenotypes for gene: PAM16 were set to Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, MIM#613320 Review for gene: PAM16 was set to GREEN gene: PAM16 was marked as current diagnostic Added comment: DD/ID is part of the phenotype of this skeletal dysplasia. Sources: Expert list |
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| Intellectual disability v3.0 | OXR1 | Zornitza Stark reviewed gene: OXR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31785787; Phenotypes: Intellectual disability, seizures, cerebellar atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | OTULIN | Zornitza Stark reviewed gene: OTULIN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | OTOGL | Zornitza Stark reviewed gene: OTOGL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 84B, MIM# 614944; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | ORC6 | Zornitza Stark edited their review of gene: ORC6: Added comment: Intellect is typically normal.; Changed publications: 26381604; Changed phenotypes: Meier Gorlin syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | LZTFL1 |
Zornitza Stark gene: LZTFL1 was added gene: LZTFL1 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: LZTFL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LZTFL1 were set to 22510444; 23692385; 27312011 Phenotypes for gene: LZTFL1 were set to Bardet-Biedl syndrome 17, MIM#615994 Review for gene: LZTFL1 was set to GREEN gene: LZTFL1 was marked as current diagnostic Added comment: Two unrelated families and functional evidence. Sources: Expert list |
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| Intellectual disability v3.0 | LYRM7 |
Zornitza Stark gene: LYRM7 was added gene: LYRM7 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: LYRM7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LYRM7 were set to Mitochondrial complex III deficiency, nuclear type 8, MIM#615838 Review for gene: LYRM7 was set to GREEN gene: LYRM7 was marked as current diagnostic Added comment: Condition is characterised by progressive deterioration but some individuals described as developmentally delayed from birth. Sources: Expert list |
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| Intellectual disability v3.0 | LTBP3 | Zornitza Stark reviewed gene: LTBP3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dental anomalies and short stature 601216, Geleophysic dysplasia 3 617809; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | LTBP2 | Zornitza Stark reviewed gene: LTBP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Weill-Marchesani syndrome 3, recessive, MIM# 614819, Glaucoma 3, primary congenital, MIM# 613086, Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, MIM# 251750; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | LSS | Zornitza Stark reviewed gene: LSS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30723320; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | LRRC6 | Zornitza Stark reviewed gene: LRRC6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 19, MIM# 614935; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | LRP4 | Zornitza Stark reviewed gene: LRP4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cenani-Lenz syndactyly syndrome, MIM# 212780, Sclerosteosis 2, MIM# 614305; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | LMX1B | Zornitza Stark reviewed gene: LMX1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | LMNA | Zornitza Stark reviewed gene: LMNA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | LMAN2L |
Zornitza Stark gene: LMAN2L was added gene: LMAN2L was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: LMAN2L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LMAN2L were set to 31020005; 26566883 Phenotypes for gene: LMAN2L were set to Intellectual disability; epilepsy Review for gene: LMAN2L was set to AMBER Added comment: 1 consanguineous family with 7 individuals with ID and epilepsy, with homozygous LMAN2L missense mutation. Segregated with disease in family, and unaffected family members were heterozygous variant carriers. No functional studies. 1 non-consanguineous family with 4 affected with heterozygous frameshift LMAN2L mutation. Segregates in family. Mutation eliminates LMAN2L's endoplasmic reticulum retention signal and mislocalizes the protein from that compartment to the plasma membrane. Amber or Red. Sources: Expert list |
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| Intellectual disability v3.0 | LIPT1 |
Zornitza Stark gene: LIPT1 was added gene: LIPT1 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: LIPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIPT1 were set to 24341803; 24256811; 29681092 Phenotypes for gene: LIPT1 were set to Lipoyltransferase 1 deficiency, MIM#616299 Review for gene: LIPT1 was set to GREEN gene: LIPT1 was marked as current diagnostic Added comment: Cognitive development is affected in this metabolic condition. Sources: Expert list |
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| Intellectual disability v3.0 | LIAS | Zornitza Stark reviewed gene: LIAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 24334290, 22152680; Phenotypes: Hyperglycinemia, lactic acidosis, and seizures, MIM#614462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | LHX4 | Zornitza Stark reviewed gene: LHX4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | LHX3 | Zornitza Stark reviewed gene: LHX3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 3, MIM# 221750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | LGI4 | Zornitza Stark reviewed gene: LGI4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis multiplex congenita, neurogenic, with myelin defect, MIM#617468; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | LFNG | Zornitza Stark reviewed gene: LFNG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | LEMD3 | Zornitza Stark reviewed gene: LEMD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | LDB3 | Zornitza Stark reviewed gene: LDB3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | LAS1L | Zornitza Stark reviewed gene: LAS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 25644381, 25644381; Phenotypes: Wilson-Turner syndrome, MIM# 309585; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | LAMB2 |
Zornitza Stark gene: LAMB2 was added gene: LAMB2 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMB2 were set to Pierson syndrome, MIM#609049 gene: LAMB2 was marked as current diagnostic Added comment: Cognitive impairment described in survivors. Sources: Expert list |
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| Intellectual disability v3.0 | KLHL40 | Zornitza Stark reviewed gene: KLHL40: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 8, autosomal recessive 615348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | KLF7 |
Zornitza Stark gene: KLF7 was added gene: KLF7 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: KLF7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KLF7 were set to 29251763 Phenotypes for gene: KLF7 were set to Intellectual disability Review for gene: KLF7 was set to GREEN gene: KLF7 was marked as current diagnostic Added comment: Four unrelated individuals with de novo missense variants; animal model data supportive. Sources: Expert list |
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| Intellectual disability v3.0 | KLF1 | Zornitza Stark reviewed gene: KLF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | KIT | Zornitza Stark reviewed gene: KIT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | KIRREL3 | Zornitza Stark reviewed gene: KIRREL3: Rating: RED; Mode of pathogenicity: None; Publications: 19012874; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | KIF22 | Zornitza Stark reviewed gene: KIF22: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondyloepimetaphyseal dysplasia with joint laxity, type 2 603546; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | KDM6B | Zornitza Stark reviewed gene: KDM6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 31124279; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | KDM3B | Zornitza Stark reviewed gene: KDM3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 30929739; Phenotypes: Intellectual disability, short stature; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | KCTD1 | Zornitza Stark reviewed gene: KCTD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | KCNQ1 | Zornitza Stark reviewed gene: KCNQ1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | KCNN3 |
Zornitza Stark gene: KCNN3 was added gene: KCNN3 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: KCNN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNN3 were set to 31155282 Phenotypes for gene: KCNN3 were set to Zimmermann-Laband syndrome 3; OMIM# 618658 Review for gene: KCNN3 was set to GREEN gene: KCNN3 was marked as current diagnostic Added comment: Three unrelated individuals reported. Sources: Expert list |
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| Intellectual disability v3.0 | KCNMA1 | Zornitza Stark reviewed gene: KCNMA1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27567911, 29545233, 26195193, 31427379; Phenotypes: Cerebellar atrophy, developmental delay, and seizures, MIM# 617643, Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM#609446; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | KCNK4 | Zornitza Stark reviewed gene: KCNK4: Rating: GREEN; Mode of pathogenicity: None; Publications: 30290154; Phenotypes: Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 618381; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | KCND3 | Zornitza Stark reviewed gene: KCND3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia 19, MIM#607346; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | KCNC3 | Zornitza Stark reviewed gene: KCNC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia 13, MIM#605259; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | KBTBD13 | Zornitza Stark reviewed gene: KBTBD13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 6, autosomal dominant, MIM# 609273; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | KAT8 | Zornitza Stark reviewed gene: KAT8: Rating: GREEN; Mode of pathogenicity: None; Publications: 31794431; Phenotypes: Intellectual disability, seizures, autism, dysmorphic features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | JAK3 | Zornitza Stark reviewed gene: JAK3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | JAGN1 | Zornitza Stark reviewed gene: JAGN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropenia, severe congenital, 6, autosomal recessive 616022; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | JAG1 | Zornitza Stark reviewed gene: JAG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alagille syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | IRF6 | Zornitza Stark reviewed gene: IRF6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | IREB2 |
Zornitza Stark gene: IREB2 was added gene: IREB2 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: IREB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IREB2 were set to 30915432; 31243445; 11175792 Phenotypes for gene: IREB2 were set to Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, MIM#618451 Review for gene: IREB2 was set to GREEN gene: IREB2 was marked as current diagnostic Added comment: Two affected individuals from unrelated families with functional evidence including highly specific, concordant phenotype in mice. Sources: Expert list |
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| Intellectual disability v3.0 | IQSEC3 |
Zornitza Stark gene: IQSEC3 was added gene: IQSEC3 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: IQSEC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IQSEC3 were set to 31130284 Phenotypes for gene: IQSEC3 were set to Intellectual disability Review for gene: IQSEC3 was set to AMBER Added comment: Two unrelated families, no functional data. Sources: Expert list |
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| Intellectual disability v3.0 | IQSEC1 | Zornitza Stark reviewed gene: IQSEC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31607425; Phenotypes: Intellectual developmental disorder with short stature and behavioral abnormalities, MIM# 618687; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | SCN4A | Zornitza Stark reviewed gene: SCN4A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperkalemic periodic paralysis, type 2, MIM# 170500, Hypokalemic periodic paralysis, type 2, MIM# 613345, Myasthenic syndrome, congenital, 16, MIM# 614198, Myotonia congenita, atypical, acetazolamide-responsive 608390, Paramyotonia congenita 168300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | INPPL1 | Zornitza Stark reviewed gene: INPPL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Opsismodysplasia, MIM# 258480; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | IMPAD1 | Zornitza Stark reviewed gene: IMPAD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chondrodysplasia with joint dislocations, GPAPP type, MIM# 614078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | IL11RA | Zornitza Stark reviewed gene: IL11RA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniosynostosis and dental anomalies, MIM# 614188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | IHH | Zornitza Stark reviewed gene: IHH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Acrocapitofemoral dysplasia, MIM# 607778, Brachydactyly, type A1, MIM# 112500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | IGF2 | Zornitza Stark reviewed gene: IGF2: Rating: RED; Mode of pathogenicity: None; Publications: 31544945, 26154720; Phenotypes: Growth restriction, severe, with distinctive facies, MIM#616489; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | IFT80 | Zornitza Stark reviewed gene: IFT80: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | IFT27 |
Zornitza Stark gene: IFT27 was added gene: IFT27 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: IFT27 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT27 were set to 24488770; 30761183 Phenotypes for gene: IFT27 were set to Bardet-Biedl syndrome 19, MIM#615996 Review for gene: IFT27 was set to AMBER Added comment: Two families with functional evidence. Sources: Expert list |
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| Intellectual disability v3.0 | IFT122 | Zornitza Stark reviewed gene: IFT122: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | IFITM5 | Zornitza Stark reviewed gene: IFITM5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | HYLS1 | Zornitza Stark reviewed gene: HYLS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hydrolethalus syndrome, MIM#236680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | HYDIN | Zornitza Stark reviewed gene: HYDIN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | HYAL1 | Zornitza Stark reviewed gene: HYAL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | HSPG2 | Zornitza Stark reviewed gene: HSPG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Schwartz-Jampel syndrome, type 1, MIM#255800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | HSF4 | Zornitza Stark reviewed gene: HSF4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | HSD3B7 | Zornitza Stark reviewed gene: HSD3B7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | HR | Zornitza Stark reviewed gene: HR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | HPSE2 | Zornitza Stark reviewed gene: HPSE2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | HPS1 | Zornitza Stark reviewed gene: HPS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | HPGD | Zornitza Stark reviewed gene: HPGD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | HOXD13 | Zornitza Stark reviewed gene: HOXD13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | HOXC13 | Zornitza Stark reviewed gene: HOXC13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | HOXA13 | Zornitza Stark reviewed gene: HOXA13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | HNMT |
Zornitza Stark gene: HNMT was added gene: HNMT was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: HNMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HNMT were set to 26206890; 30744146 Phenotypes for gene: HNMT were set to Mental retardation, autosomal recessive 51, MIM#616739 Review for gene: HNMT was set to GREEN Added comment: 7 individuals from two unrelated families, some functional evidence and other circumstantial evidence linking this gene to brain function. Borderline Amber/Green. Sources: Expert list |
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| Intellectual disability v3.0 | HNF4A | Zornitza Stark reviewed gene: HNF4A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | HMGCS2 | Zornitza Stark reviewed gene: HMGCS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: HMG-CoA synthase-2 deficiency, MIM# 605911; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | HADHB |
Zornitza Stark gene: HADHB was added gene: HADHB was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HADHB were set to Trifunctional protein deficiency, MIM#609015 Review for gene: HADHB was set to GREEN gene: HADHB was marked as current diagnostic Added comment: ID is part of the phenotype. Sources: Expert list |
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| Intellectual disability v3.0 | HADH | Zornitza Stark reviewed gene: HADH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM#231530, Hyperinsulinemic hypoglycemia, familial, 4, MIM#609975; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | GUCY2C | Zornitza Stark reviewed gene: GUCY2C: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | GRM6 | Zornitza Stark reviewed gene: GRM6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | GRIA1 | Zornitza Stark reviewed gene: GRIA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | GRHL3 | Zornitza Stark reviewed gene: GRHL3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | GPSM2 | Zornitza Stark reviewed gene: GPSM2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chudley-McCullough syndrome, MIM#604213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | GPR179 | Zornitza Stark reviewed gene: GPR179: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | GPC4 |
Zornitza Stark gene: GPC4 was added gene: GPC4 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: GPC4 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: GPC4 were set to 30982611 Phenotypes for gene: GPC4 were set to Keipert syndrome OMIM# 301026 Review for gene: GPC4 was set to GREEN gene: GPC4 was marked as current diagnostic Added comment: 10 individuals from 6 families reported, functional studies in mice. Mild to moderate ID part of the phenotype. Sources: Expert list |
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| Intellectual disability v3.0 | GOT2 | Zornitza Stark reviewed gene: GOT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31422819; Phenotypes: Epileptic encephalopathy, early infantile, 82, MIM# 618721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | GNE |
Zornitza Stark gene: GNE was added gene: GNE was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: GNE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GNE were set to Sialuria, MIM#269921 Review for gene: GNE was set to GREEN gene: GNE was marked as current diagnostic Added comment: Metabolic disorder with varying degrees of ID being a feature. Bi-allelic variants cause Nonaka myopathy, MIM#605820 Sources: Expert list |
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| Intellectual disability v3.0 | GNAI3 | Zornitza Stark reviewed gene: GNAI3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | HDAC4 | Zornitza Stark reviewed gene: HDAC4: Rating: AMBER; Mode of pathogenicity: None; Publications: 24715439, 20691407, 31209962; Phenotypes: Brachydactyly mental retardation syndrome, Brachydactyly without intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | GLS |
Zornitza Stark gene: GLS was added gene: GLS was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: GLS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLS were set to 30970188 Phenotypes for gene: GLS were set to Global developmental delay, progressive ataxia, and elevated glutamine, MIM# 618412 Review for gene: GLS was set to GREEN Added comment: Three unrelated individuals described with compound het variants, however, note one of these is a triplet expansion in the 5' UTR. Sources: Expert list |
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| Early onset or syndromic epilepsy v2.0 | TRAPPC4 | Zornitza Stark reviewed gene: TRAPPC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31794024; Phenotypes: intellectual disability, epilepsy, spasticity, microcephaly; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | TMX2 | Zornitza Stark reviewed gene: TMX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31735293, 31586943; Phenotypes: Microcephaly, ID, brain malformations, seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | SNX27 | Zornitza Stark reviewed gene: SNX27: Rating: GREEN; Mode of pathogenicity: None; Publications: 25894286, 31721175, 21300787, 23524343; Phenotypes: intellectual disability, seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | PUM1 | Zornitza Stark reviewed gene: PUM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29474920, 25768905, 30903679, 31859446; Phenotypes: intellectual disability, epilepsy, Spinocerebellar ataxia 47, MIM# 617931; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | PMPCB | Zornitza Stark reviewed gene: PMPCB: Rating: GREEN; Mode of pathogenicity: None; Publications: 29576218; Phenotypes: Multiple mitochondrial dysfunctions syndrome 6, MIM# 617954; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | OXR1 | Zornitza Stark reviewed gene: OXR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31785787, 22028674; Phenotypes: Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay, MIM# 213000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | NSF | Zornitza Stark reviewed gene: NSF: Rating: AMBER; Mode of pathogenicity: None; Publications: 31675180; Phenotypes: Seizures, EEG with burst suppression, Global developmental delay, Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | KAT8 | Zornitza Stark reviewed gene: KAT8: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31794431; Phenotypes: Intellectual disability, seizures, autism, dysmorphic features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | GLMN | Zornitza Stark reviewed gene: GLMN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | GLE1 | Zornitza Stark reviewed gene: GLE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | GJB1 | Zornitza Stark reviewed gene: GJB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | GJA8 | Zornitza Stark reviewed gene: GJA8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | GJA3 | Zornitza Stark reviewed gene: GJA3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | GJA1 | Zornitza Stark reviewed gene: GJA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrioventricular septal defect 3, MIM#600309, Craniometaphyseal dysplasia, autosomal recessive, MIM#218400, Erythrokeratodermia variabilis et progressiva 3, MIM#617525, Hypoplastic left heart syndrome 1, MIM#241550, Oculodentodigital dysplasia, MIM#164200, Oculodentodigital dysplasia, autosomal recessive, MIM#257850, Palmoplantar keratoderma with congenital alopecia, MIM#104100, Syndactyly, type III, MIM# 186100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | GHR | Zornitza Stark reviewed gene: GHR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Growth hormone insensitivity, partial, MIM#604271, Laron dwarfism, MIM#262500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v2.1 | Ellen McDonagh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v1.1 | Ellen McDonagh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.1 | Ellen McDonagh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v2.1 | Ellen McDonagh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | GDF6 | Zornitza Stark reviewed gene: GDF6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | GDF5 | Zornitza Stark reviewed gene: GDF5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | GBA2 | Zornitza Stark reviewed gene: GBA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 46, autosomal recessive, MIM#614409; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | GATA6 | Zornitza Stark reviewed gene: GATA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 22158542; Phenotypes: Pancreatic agenesis and congenital heart defects, MIM#600001; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | GATA4 | Zornitza Stark reviewed gene: GATA4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | GATA2 | Zornitza Stark reviewed gene: GATA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | GAS8 | Zornitza Stark reviewed gene: GAS8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | GALK1 | Zornitza Stark reviewed gene: GALK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | GAA | Zornitza Stark reviewed gene: GAA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | SERPINI1 |
Zornitza Stark gene: SERPINI1 was added gene: SERPINI1 was added to Genetic epilepsy syndromes. Sources: Expert list Mode of inheritance for gene: SERPINI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SERPINI1 were set to 28631894; 25401298; 12103288 Phenotypes for gene: SERPINI1 were set to Encephalopathy, familial, with neuroserpin inclusion bodies MIM#604218 Review for gene: SERPINI1 was set to GREEN gene: SERPINI1 was marked as current diagnostic Added comment: >3 unrelated families with progressive myoclonus epilepsy Sources: Expert list |
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| Early onset or syndromic epilepsy v2.0 | CERS1 | Zornitza Stark reviewed gene: CERS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30800706, 21625621; Phenotypes: Epilepsy, progressive myoclonic, 8 MIM#616230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | FZD6 | Zornitza Stark reviewed gene: FZD6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | FYCO1 | Zornitza Stark reviewed gene: FYCO1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | FXN | Zornitza Stark reviewed gene: FXN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | FTL | Zornitza Stark reviewed gene: FTL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 3, MIM#606159, Hyperferritinemia-cataract syndrome, MIM#600886, L-ferritin deficiency, dominant and recessive, MIM#615604; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | FRY | Zornitza Stark reviewed gene: FRY: Rating: AMBER; Mode of pathogenicity: None; Publications: 31487712, 27457812, 21937992; Phenotypes: Intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | FOXN1 | Zornitza Stark reviewed gene: FOXN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | FOXF1 | Zornitza Stark reviewed gene: FOXF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | FOXE3 | Zornitza Stark reviewed gene: FOXE3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | FOXE1 | Zornitza Stark reviewed gene: FOXE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | FOXC2 | Zornitza Stark reviewed gene: FOXC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | FOXC1 | Zornitza Stark reviewed gene: FOXC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | FLVCR1 | Zornitza Stark reviewed gene: FLVCR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ataxia, posterior column, with retinitis pigmentosa, MIM#609033; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | FLT4 | Zornitza Stark reviewed gene: FLT4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | FLNB | Zornitza Stark reviewed gene: FLNB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | FKBP14 | Zornitza Stark reviewed gene: FKBP14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | FHL1 | Zornitza Stark reviewed gene: FHL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | FGFR1 | Zornitza Stark edited their review of gene: FGFR1: Added comment: Gene causes several phenotypes but this specific phenotype caused by germline variants is associated with significant ID.; Changed publications: 23812909; Changed phenotypes: Hartsfield syndrome, MIM# 615465 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | TKFC |
Zornitza Stark gene: TKFC was added gene: TKFC was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: TKFC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TKFC were set to 32004446 Phenotypes for gene: TKFC were set to Developmental delay; cataracts; liver dysfunction Review for gene: TKFC was set to AMBER Added comment: Two unrelated individuals reported. Sources: Expert list |
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| Early onset or syndromic epilepsy v2.0 | RALGAPA1 |
Zornitza Stark gene: RALGAPA1 was added gene: RALGAPA1 was added to Genetic epilepsy syndromes. Sources: Expert list Mode of inheritance for gene: RALGAPA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RALGAPA1 were set to 32004447 Phenotypes for gene: RALGAPA1 were set to Intellectual disability; hypotonia; infantile spasms. Review for gene: RALGAPA1 was set to GREEN gene: RALGAPA1 was marked as current diagnostic Added comment: Four unrelated individuals reported. Sources: Expert list |
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| Intellectual disability v3.0 | RALGAPA1 |
Zornitza Stark gene: RALGAPA1 was added gene: RALGAPA1 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: RALGAPA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RALGAPA1 were set to 32004447 Phenotypes for gene: RALGAPA1 were set to Intellectual disability; hypotonia; infantile spasms. Review for gene: RALGAPA1 was set to GREEN gene: RALGAPA1 was marked as current diagnostic Added comment: Four unrelated individuals reported. Sources: Expert list |
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| Intellectual disability v3.0 | FGF3 | Zornitza Stark reviewed gene: FGF3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM#610706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | FGF14 | Zornitza Stark reviewed gene: FGF14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia 27, MIM# 609307; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | FGF10 | Zornitza Stark reviewed gene: FGF10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | FDFT1 | Zornitza Stark reviewed gene: FDFT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29909962; Phenotypes: Squalene synthase deficiency, MIM#618156; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | FBXW4 | Zornitza Stark reviewed gene: FBXW4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | FBP1 | Zornitza Stark reviewed gene: FBP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | FBN1 | Zornitza Stark reviewed gene: FBN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | FARSB |
Zornitza Stark gene: FARSB was added gene: FARSB was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: FARSB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FARSB were set to 29573043; 1916114; 29979980; 30014610 Phenotypes for gene: FARSB were set to Rajab syndrome, MIM#613658; interstitial lung disease; brain calcifications; microcephaly; intellectual disability Review for gene: FARSB was set to GREEN gene: FARSB was marked as current diagnostic Added comment: 7 unrelated families reported. Sources: Expert list |
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| Intellectual disability v3.0 | FAR1 | Zornitza Stark reviewed gene: FAR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25439727; Phenotypes: Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | FAM20A | Zornitza Stark reviewed gene: FAM20A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | FAM161A | Zornitza Stark reviewed gene: FAM161A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | FAAH2 | Zornitza Stark reviewed gene: FAAH2: Rating: RED; Mode of pathogenicity: None; Publications: 25885783; Phenotypes: Neuropsychiatric disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | FA2H | Zornitza Stark reviewed gene: FA2H: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | EYA1 | Zornitza Stark reviewed gene: EYA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | EXT2 | Zornitza Stark reviewed gene: EXT2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Seizures, scoliosis, and macrocephaly syndrome, MIM#616682; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | EXOSC8 |
Zornitza Stark gene: EXOSC8 was added gene: EXOSC8 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: EXOSC8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOSC8 were set to 24989451; 29656927 Phenotypes for gene: EXOSC8 were set to Pontocerebellar hypoplasia, type 1C, MIM#616081 Review for gene: EXOSC8 was set to GREEN gene: EXOSC8 was marked as current diagnostic Added comment: Complex neurological phenotype includes ID. Sources: Expert list |
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| Intellectual disability v3.0 | EVC2 | Zornitza Stark reviewed gene: EVC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ellis-van Creveld syndrome, MIM#225500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | EVC | Zornitza Stark reviewed gene: EVC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ellis-van Creveld syndrome, MIM#225500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | ERMARD | Zornitza Stark reviewed gene: ERMARD: Rating: RED; Mode of pathogenicity: None; Publications: 24056535, 27087860; Phenotypes: Periventricular nodular heterotopia 6, MIM#615544; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | ERF | Zornitza Stark reviewed gene: ERF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chitayat syndrome, MIM#617180, Craniosynostosis 4, MIM#600775; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | ERCC4 | Zornitza Stark reviewed gene: ERCC4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, group F, MIM#278760, XFE progeroid syndrome, MIM# 610965; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | EOGT | Zornitza Stark reviewed gene: EOGT: Rating: RED; Mode of pathogenicity: None; Publications: 31368252; Phenotypes: Adams-Oliver syndrome 4, MIM#615297; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | ENPP1 | Zornitza Stark reviewed gene: ENPP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | ELN | Zornitza Stark reviewed gene: ELN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Supravalvar aortic stenosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | EIF2A |
Zornitza Stark gene: EIF2A was added gene: EIF2A was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: EIF2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIF2A were set to 31130284 Phenotypes for gene: EIF2A were set to Intellectual disability; epilepsy Review for gene: EIF2A was set to AMBER Added comment: Two unrelated families reported, no functional data. Sources: Expert list |
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| Intellectual disability v3.0 | ATAD3A | Zornitza Stark reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32004445; Phenotypes: Harel-Yoon syndrome 617183; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | EDNRA | Zornitza Stark reviewed gene: EDNRA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mandibulofacial dysostosis with alopecia, MIM# 616367; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | EDA | Zornitza Stark reviewed gene: EDA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | ECEL1 | Zornitza Stark reviewed gene: ECEL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | EARS2 |
Zornitza Stark gene: EARS2 was added gene: EARS2 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: EARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EARS2 were set to 22492562 Phenotypes for gene: EARS2 were set to Combined oxidative phosphorylation deficiency 12, MIM#614924 Review for gene: EARS2 was set to GREEN gene: EARS2 was marked as current diagnostic Added comment: ID is part of the phenotype, particularly in those severely affected. Sources: Expert list |
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| Intellectual disability v3.0 | DYNC2H1 | Zornitza Stark reviewed gene: DYNC2H1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, MIM#613091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | DVL1 | Zornitza Stark reviewed gene: DVL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Robinow syndrome, autosomal dominant 2 616331; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | DSTYK | Zornitza Stark reviewed gene: DSTYK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | DSPP | Zornitza Stark reviewed gene: DSPP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | DPM3 | Zornitza Stark reviewed gene: DPM3: Rating: RED; Mode of pathogenicity: None; Publications: 19576565, 28803818, 30931530, 31469168; Phenotypes: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | DNM1L |
Zornitza Stark gene: DNM1L was added gene: DNM1L was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: DNM1L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: DNM1L were set to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MIM#614388 Mode of pathogenicity for gene: DNM1L was set to Other Review for gene: DNM1L was set to GREEN gene: DNM1L was marked as current diagnostic Added comment: Dominant and recessive disease described depending on domain affected; dominant negative effect of heterozygous missense variants. LoF/LoF or LoF/missense for AR variants. Sources: Expert list |
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| Intellectual disability v3.0 | DNAAF4 | Zornitza Stark reviewed gene: DNAAF4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | DNAAF3 | Zornitza Stark reviewed gene: DNAAF3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | DMP1 | Zornitza Stark reviewed gene: DMP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | DLL4 | Zornitza Stark reviewed gene: DLL4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | DLL3 | Zornitza Stark reviewed gene: DLL3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | DLL1 | Zornitza Stark reviewed gene: DLL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31353024; Phenotypes: Intellectual disability, autism, seizures, variable brain abnormalities, scoliosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | DENND5A | Zornitza Stark reviewed gene: DENND5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27431290, 27866705; Phenotypes: Epileptic encephalopathy, early infantile, 49 617281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | DDOST | Zornitza Stark changed review comment from: Single family reported with supportive functional data, Amber at best.; to: Single family reported with supportive functional data, gene is RED on CDG panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | DDOST | Zornitza Stark reviewed gene: DDOST: Rating: RED; Mode of pathogenicity: None; Publications: 22305527; Phenotypes: Congenital disorder of glycosylation, type Ir, MIM# 614507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | DDB2 | Zornitza Stark reviewed gene: DDB2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | DCC | Zornitza Stark reviewed gene: DCC: Rating: RED; Mode of pathogenicity: None; Publications: 31697046; Phenotypes: Agenesis of the corpus callosum; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CYP7B1 | Zornitza Stark reviewed gene: CYP7B1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 5A, autosomal recessive, MIM# 270800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CYP2U1 | Zornitza Stark reviewed gene: CYP2U1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 56, autosomal recessive, MIM#615030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CYP1B1 | Zornitza Stark reviewed gene: CYP1B1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CTU2 |
Zornitza Stark gene: CTU2 was added gene: CTU2 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: CTU2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTU2 were set to 27480277; 26633546 Phenotypes for gene: CTU2 were set to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142 Review for gene: CTU2 was set to GREEN Added comment: Multiple Saudi families reported with same homozygous variant; founder effect. Severe disorder of infancy. Sources: Expert list |
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| Intellectual disability v3.0 | CTSK | Zornitza Stark reviewed gene: CTSK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CTSF | Zornitza Stark reviewed gene: CTSF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM#615362; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CTNS | Zornitza Stark reviewed gene: CTNS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CRYGD | Zornitza Stark Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CRYGD | Zornitza Stark commented on gene: CRYGD: ID is not part of the phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CRYGD | Zornitza Stark reviewed gene: CRYGD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CRYBB3 | Zornitza Stark reviewed gene: CRYBB3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CRYBB2 | Zornitza Stark reviewed gene: CRYBB2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CRYBB1 | Zornitza Stark reviewed gene: CRYBB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CRYBA1 | Zornitza Stark reviewed gene: CRYBA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CRYAA | Zornitza Stark reviewed gene: CRYAA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CRX | Zornitza Stark reviewed gene: CRX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CRB1 | Zornitza Stark commented on gene: CRB1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | COMP | Zornitza Stark reviewed gene: COMP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | COL9A3 | Zornitza Stark reviewed gene: COL9A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | COL9A2 | Zornitza Stark reviewed gene: COL9A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | COL9A1 | Zornitza Stark reviewed gene: COL9A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | COL6A1 | Zornitza Stark reviewed gene: COL6A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | COL4A4 | Zornitza Stark reviewed gene: COL4A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | COL4A3 | Zornitza Stark reviewed gene: COL4A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | COL2A1 | Zornitza Stark reviewed gene: COL2A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | COL1A1 | Zornitza Stark reviewed gene: COL1A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | COL18A1 | Zornitza Stark reviewed gene: COL18A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Knobloch syndrome, type 1, MIM#267750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | COL11A1 | Zornitza Stark reviewed gene: COL11A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Stickler syndrome, type II, MIM# 604841; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | COL10A1 | Zornitza Stark reviewed gene: COL10A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Metaphyseal chondrodysplasia, Schmid type, MIM# 156500; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CNTNAP1 |
Zornitza Stark gene: CNTNAP1 was added gene: CNTNAP1 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: CNTNAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CNTNAP1 were set to 28374019; 29511323; 27668699 Phenotypes for gene: CNTNAP1 were set to Hypomyelinating neuropathy, congenital, 3, MIM#618186; Lethal congenital contracture syndrome 7, MIM# 616286 Review for gene: CNTNAP1 was set to GREEN gene: CNTNAP1 was marked as current diagnostic Added comment: Multiple affected individuals reported; ID is part of the phenotype. Sources: Expert list |
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| Intellectual disability v3.0 | CLDN19 | Zornitza Stark reviewed gene: CLDN19: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypomagnesemia 5, renal, with ocular involvement, MIM# 248190; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CLCN7 | Zornitza Stark reviewed gene: CLCN7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CIB2 | Zornitza Stark reviewed gene: CIB2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 48, MIM# 609439, Usher syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CHUK | Zornitza Stark reviewed gene: CHUK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cocoon syndrome, MIM# 613630; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CHSY1 | Zornitza Stark reviewed gene: CHSY1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Temtamy preaxial brachydactyly syndrome 605282; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CHST3 | Zornitza Stark reviewed gene: CHST3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondyloepiphyseal dysplasia with congenital joint dislocations, MIM# 143095; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CHRNG | Zornitza Stark reviewed gene: CHRNG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Escobar syndrome, MIM# 265000, Multiple pterygium syndrome, lethal type, MIM# 253290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CHRDL1 | Zornitza Stark reviewed gene: CHRDL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Megalocornea 1, X-linked, MIM# 309300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CHM | Zornitza Stark reviewed gene: CHM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Choroideremia, MIM# 303100; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CHD1 |
Zornitza Stark gene: CHD1 was added gene: CHD1 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: CHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHD1 were set to 28866611 Phenotypes for gene: CHD1 were set to Pilarowski-Bjornsson syndrome, MIM#617682 Mode of pathogenicity for gene: CHD1 was set to Other Review for gene: CHD1 was set to GREEN gene: CHD1 was marked as current diagnostic Added comment: Six unrelated individuals with heterozygous variants reported. Possible dominant negative mechanism: reported variants are missense, and an individual with a deletion did not have a neurological phenotype. Sources: Expert list |
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| Intellectual disability v3.0 | CEP104 | Zornitza Stark reviewed gene: CEP104: Rating: GREEN; Mode of pathogenicity: None; Publications: 26477546; Phenotypes: Joubert syndrome 25, MIM# 616781; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CDH3 | Zornitza Stark reviewed gene: CDH3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectodermal dysplasia, ectrodactyly, and macular dystrophy 225280, Hypotrichosis, congenital, with juvenile macular dystrophy 601553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CDH23 | Zornitza Stark reviewed gene: CDH23: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, Usher syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CDH2 | Zornitza Stark reviewed gene: CDH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31585109; Phenotypes: Intellectual disability, corpus callosum abnormalities, congenital abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CCT5 | Zornitza Stark reviewed gene: CCT5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, hereditary sensory, with spastic paraplegia, MIM# 256840; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CCNO | Zornitza Stark reviewed gene: CCNO: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 29, MIM# 615872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CCDC88A | Zornitza Stark edited their review of gene: CCDC88A: Added comment: Two unrelated families now plus mouse model.; Changed publications: 26917597, 30392057; Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CCDC65 | Zornitza Stark reviewed gene: CCDC65: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 27, MIM# 615504; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CCDC40 | Zornitza Stark reviewed gene: CCDC40: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 15, MIM# 613808; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CCDC114 | Zornitza Stark reviewed gene: CCDC114: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 20, MIM# 615067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CCDC103 | Zornitza Stark reviewed gene: CCDC103: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 17, MIM# 614679; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CARS2 | Zornitza Stark reviewed gene: CARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30139652; Phenotypes: Combined oxidative phosphorylation deficiency 27, MIM#616672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | EBP | Zornitza Stark reviewed gene: EBP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chondrodysplasia punctata, X-linked dominant MIM#302960, Conradi-Hunermann syndrome, MEND syndrome, MIM#300960; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | SCN4A | Andrea Haworth commented on gene: SCN4A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.0 | DGKE |
Eleanor Williams edited their review of gene: DGKE: Added comment: Associated with Nephrotic syndrome, type 7 #615008 (AR) in OMIM. PMID: 23542698 - Lemaire et al 2013 - 9 families identified with homozgyous or compound heterozygous variants in DGKE. All were cases of pediatric-onset aHUS. One variant was found in on both alleles in 3 families (p.Trp322*) and heterozygously in 2 others and the families are thought to have a remote shared ancestry. Three patients from different families developed nephrotic syndrome 3-5 years after disease onset. PMID: 23274426 - Ozaltin et al 2013 - 3 consanguineous families - 3 different homozygous variants in 9 individuals. Table 1 gives proteinuria levels at onset.; Changed publications: PMID: 23274426, PMID: 23542698 |
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| Proteinuric renal disease v2.0 | KANK2 |
Eleanor Williams commented on gene: KANK2: Associated with Nephrotic syndrome, type 16 #617783 (AR) in OMIM. PMID: 25961457 - Gee et al 2015 - performed homozygosity mapping and whole-exome sequencing in individuals with NS identified recessive mutations in KANK2 in two families with NS. In family A982 of Arab origin, 2 siblings had early-onset SSNS and were found to have a homozygous missense mutation c.541A>G;p.S181G in KANK2. It segregated with the disorder in the family. In an unrelated individual with SSNS (A1751-21), they found a homozygous missense mutation (c.2051C>T;p.S684F) in KANK2. 27 known genes previously linked to SRNS were screened in this individual, but no explanatory mutations were detected. Knockdown of kank2 in zebrafish results in proteinuria which could be partially rescued by wild type human KANK2 mRNA but not either of the mutant mRNAs. My reading of Table 1 is that there were two cases - one family with two siblings (individuals A982-21 and A982-22) with the same variant, and a second unrelated individual (A1751-21) with a different missense variant. |
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| Proteinuric renal disease v2.0 | CD2AP |
Eleanor Williams changed review comment from: Associated with Glomerulosclerosis, focal segmental, 3 #607832 in OMIM (no inheritance given) Mouse knockout model supports renal involvement. 2 cases with heterozgous variants and FSGS but only CD2AP looked at. Two familial cases of homozygous variants (in one only CD2AP screened) and FSGS. PMID: 10514378 - Shih et al 1999 - In CD2AP-deficient mice, immune function was compromised, but the mice died at 6 to 7 weeks of age from renal failure. In the kidney, CD2AP was expressed primarily in glomerular epithelial cells. PMID: 12764198 - Kim et al 2003 - CD2AP+/- showed glomerular abnormalities at 9 months of age but not proteinuria. Screened 30 African-Americans with idiopathic FSGS and 15 African-Americans with HIV-associated FSGS for changes in CD2AP. One variant, predicted to affect the splice acceptor of exon 7 in one allele, was found in 2 patients with primary FSGS and expression of the protein was lower in these patients. PMID:17713465 - Löwik et al 2007 - report a homozygous variant in a proband with primary Focal segmental glomerulosclerosis, from a consanguineous family of Mediterranean ancestry. A homozygous c1834 C>T (R612Stop) variant was found. Both parents were proven to be heterozygous for this mutation. An immunoblot shows no CD2AP expression in the patient carrying the R612Stop mutation homozygously PMID: 30612599 - Takano et al 2019 - Using WES, they identified a homozygous frame-shift mutation in CD2AP (p.S198fs) in three siblings born of consanguineous parents who developed childhood-onset FSGS and end stage renal disease. When the same frameshift mutation was introduced in mice by gene editing, the mice developed FSGS and kidney failure. (Abstract only accessed).; to: Associated with Glomerulosclerosis, focal segmental, 3 #607832 in OMIM (no inheritance given) Mouse knockout model supports renal involvement. 2 cases with heterozgous variants and FSGS but only CD2AP looked at. Two familial cases of homozygous variants (in one only CD2AP screened) and FSGS. PMID: 10514378 - Shih et al 1999 - In CD2AP-deficient mice, immune function was compromised, but the mice died at 6 to 7 weeks of age from renal failure. In the kidney, CD2AP was expressed primarily in glomerular epithelial cells. PMID: 12764198 - Kim et al 2003 - CD2AP+/- showed glomerular abnormalities at 9 months of age but not proteinuria. Screened 30 African-Americans with idiopathic FSGS and 15 African-Americans with HIV-associated FSGS for changes in CD2AP. One variant, predicted to affect the splice acceptor of exon 7 in one allele, was found in 2 patients with primary FSGS and expression of the protein was lower in these patients. PMID:17713465 - Löwik et al 2007 - report a homozygous variant in a proband with primary Focal segmental glomerulosclerosis, from a consanguineous family of Mediterranean ancestry. A homozygous c1834 C>T (R612Stop) variant was found. Both parents were proven to be heterozygous for this mutation. An immunoblot shows no CD2AP expression in the patient carrying the R612Stop mutation homozygously PMID: 30612599 - Takano et al 2019 - Using WES, they identified a homozygous frame-shift mutation in CD2AP (p.S198fs) in three siblings born of consanguineous parents who developed childhood-onset FSGS and end stage renal disease. When the same frameshift mutation was introduced in mice by gene editing, the mice developed FSGS and kidney failure. (Abstract only accessed). |
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| Proteinuric renal disease v2.0 | PTPRO |
Eleanor Williams edited their review of gene: PTPRO: Added comment: Associated with Nephrotic syndrome, type 6 #614196 (AR) in OMIM. 2 families: PMID: 21722858 - Ozaltin et al 2011 - 2 Turkish families reported, total of 5 individuals. A region of homozygosity was identified in a consangiuneous family with Idiopathic nephrotic syndrome. By direct sequencing of PTPRO a homozygous c.2627+1G>T donor splice-site mutation was identified. In a second family, a c.2745+1G>A donor splice-site mutation in PTPRO was identified. Electron microscopy identified ultrastructural alterations in podocytes in both families. PMID: 30065916 - Trautmann et al 2018 - PodoNet Registry paper - describes the same families as Ozaltin et al.; Changed publications: PMID: 21722858, PMID: 30065916 |
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| Proteinuric renal disease v2.0 | CD2AP | Eleanor Williams edited their review of gene: CD2AP: Changed publications: 30612599, 17713465, 10514378, 12764198 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.0 | CD2AP |
Eleanor Williams changed review comment from: Associated with Glomerulosclerosis, focal segmental, 3 #607832 in OMIM (no inheritance given) Mouse knockout model supports renal involvement. 2 cases with heterozgous variants and FSGS but only CD2AP looked at. Two familial cases of homozygous variants (in one only CD2AP screened) and FSGS. PMID: 10514378 - Shih et al 1999 - In CD2AP-deficient mice, immune function was compromised, but the mice died at 6 to 7 weeks of age from renal failure. In the kidney, CD2AP was expressed primarily in glomerular epithelial cells. PMID: Kim et al 2003 - CD2AP+/- showed glomerular abnormalities at 9 months of age but not proteinuria. Screened 30 African-Americans with idiopathic FSGS and 15 African-Americans with HIV-associated FSGS for changes in CD2AP. One variant, predicted to affect the splice acceptor of exon 7 in one allele, was found in 2 patients with primary FSGS and expression of the protein was lower in these patients. PMID:17713465 - Löwik et al 2007 - report a homozygous variant in a proband with primary Focal segmental glomerulosclerosis, from a consanguineous family of Mediterranean ancestry. A homozygous c1834 C>T (R612Stop) variant was found. Both parents were proven to be heterozygous for this mutation. An immunoblot shows no CD2AP expression in the patient carrying the R612Stop mutation homozygously PMID: 30612599 - Takano et al 2019 - Using WES, they identified a homozygous frame-shift mutation in CD2AP (p.S198fs) in three siblings born of consanguineous parents who developed childhood-onset FSGS and end stage renal disease. When the same frameshift mutation was introduced in mice by gene editing, the mice developed FSGS and kidney failure. (Abstract only accessed).; to: Associated with Glomerulosclerosis, focal segmental, 3 #607832 in OMIM (no inheritance given) Mouse knockout model supports renal involvement. 2 cases with heterozgous variants and FSGS but only CD2AP looked at. Two familial cases of homozygous variants (in one only CD2AP screened) and FSGS. PMID: 10514378 - Shih et al 1999 - In CD2AP-deficient mice, immune function was compromised, but the mice died at 6 to 7 weeks of age from renal failure. In the kidney, CD2AP was expressed primarily in glomerular epithelial cells. PMID: 12764198 - Kim et al 2003 - CD2AP+/- showed glomerular abnormalities at 9 months of age but not proteinuria. Screened 30 African-Americans with idiopathic FSGS and 15 African-Americans with HIV-associated FSGS for changes in CD2AP. One variant, predicted to affect the splice acceptor of exon 7 in one allele, was found in 2 patients with primary FSGS and expression of the protein was lower in these patients. PMID:17713465 - Löwik et al 2007 - report a homozygous variant in a proband with primary Focal segmental glomerulosclerosis, from a consanguineous family of Mediterranean ancestry. A homozygous c1834 C>T (R612Stop) variant was found. Both parents were proven to be heterozygous for this mutation. An immunoblot shows no CD2AP expression in the patient carrying the R612Stop mutation homozygously PMID: 30612599 - Takano et al 2019 - Using WES, they identified a homozygous frame-shift mutation in CD2AP (p.S198fs) in three siblings born of consanguineous parents who developed childhood-onset FSGS and end stage renal disease. When the same frameshift mutation was introduced in mice by gene editing, the mice developed FSGS and kidney failure. (Abstract only accessed). |
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| Proteinuric renal disease v2.0 | CD2AP |
Eleanor Williams changed review comment from: Associated with Glomerulosclerosis, focal segmental, 3 #607832 in OMIM (no inheritance given) Mouse knockout model supports renal effect. 2 cases with heterozgous variants and FSGS but only CD2AP looked at. Two familial cases of homozygous variants (in one only CD2AP screened) and FSGS. PMID: 10514378 - Shih et al 1999 - In CD2AP-deficient mice, immune function was compromised, but the mice died at 6 to 7 weeks of age from renal failure. In the kidney, CD2AP was expressed primarily in glomerular epithelial cells. PMID: Kim et al 2003 - CD2AP+/- showed glomerular abnormalities at 9 months of age but not proteinuria. Screened 30 African-Americans with idiopathic FSGS and 15 African-Americans with HIVE-associated FSGS for changes in CD2AP. One variant, predicted to affect the splice acceptor of exon 7 in one allele, was found in 2 patients with primary FSGS and expression of the protein was lower in these patients. PMID:17713465 - Löwik et al 2007 - report a homozygous variant in a proband with primary Focal segmental glomerulosclerosis, from a consanguineous family of Mediterranean ancestry. A homozygous c1834 C>T (R612Stop) variant was found. Both parents were proven to be heterozygous for this mutation. An immunoblot shows no CD2AP expression in the patient carrying the R612Stop mutation homozygously PMID: 30612599 - Takano et al 2019 - Using WES, they identified a homozygous frame-shift mutation in CD2AP (p.S198fs) in three siblings born of consanguineous parents who developed childhood-onset FSGS and end stage renal disease. When the same frameshift mutation was introduced in mice by gene editing, the mice developed FSGS and kidney failure. (Abstract only accessed).; to: Associated with Glomerulosclerosis, focal segmental, 3 #607832 in OMIM (no inheritance given) Mouse knockout model supports renal involvement. 2 cases with heterozgous variants and FSGS but only CD2AP looked at. Two familial cases of homozygous variants (in one only CD2AP screened) and FSGS. PMID: 10514378 - Shih et al 1999 - In CD2AP-deficient mice, immune function was compromised, but the mice died at 6 to 7 weeks of age from renal failure. In the kidney, CD2AP was expressed primarily in glomerular epithelial cells. PMID: Kim et al 2003 - CD2AP+/- showed glomerular abnormalities at 9 months of age but not proteinuria. Screened 30 African-Americans with idiopathic FSGS and 15 African-Americans with HIV-associated FSGS for changes in CD2AP. One variant, predicted to affect the splice acceptor of exon 7 in one allele, was found in 2 patients with primary FSGS and expression of the protein was lower in these patients. PMID:17713465 - Löwik et al 2007 - report a homozygous variant in a proband with primary Focal segmental glomerulosclerosis, from a consanguineous family of Mediterranean ancestry. A homozygous c1834 C>T (R612Stop) variant was found. Both parents were proven to be heterozygous for this mutation. An immunoblot shows no CD2AP expression in the patient carrying the R612Stop mutation homozygously PMID: 30612599 - Takano et al 2019 - Using WES, they identified a homozygous frame-shift mutation in CD2AP (p.S198fs) in three siblings born of consanguineous parents who developed childhood-onset FSGS and end stage renal disease. When the same frameshift mutation was introduced in mice by gene editing, the mice developed FSGS and kidney failure. (Abstract only accessed). |
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| Proteinuric renal disease v2.0 | CD2AP |
Eleanor Williams edited their review of gene: CD2AP: Added comment: Associated with Glomerulosclerosis, focal segmental, 3 #607832 in OMIM (no inheritance given) Mouse knockout model supports renal effect. 2 cases with heterozgous variants and FSGS but only CD2AP looked at. Two familial cases of homozygous variants (in one only CD2AP screened) and FSGS. PMID: 10514378 - Shih et al 1999 - In CD2AP-deficient mice, immune function was compromised, but the mice died at 6 to 7 weeks of age from renal failure. In the kidney, CD2AP was expressed primarily in glomerular epithelial cells. PMID: Kim et al 2003 - CD2AP+/- showed glomerular abnormalities at 9 months of age but not proteinuria. Screened 30 African-Americans with idiopathic FSGS and 15 African-Americans with HIVE-associated FSGS for changes in CD2AP. One variant, predicted to affect the splice acceptor of exon 7 in one allele, was found in 2 patients with primary FSGS and expression of the protein was lower in these patients. PMID:17713465 - Löwik et al 2007 - report a homozygous variant in a proband with primary Focal segmental glomerulosclerosis, from a consanguineous family of Mediterranean ancestry. A homozygous c1834 C>T (R612Stop) variant was found. Both parents were proven to be heterozygous for this mutation. An immunoblot shows no CD2AP expression in the patient carrying the R612Stop mutation homozygously PMID: 30612599 - Takano et al 2019 - Using WES, they identified a homozygous frame-shift mutation in CD2AP (p.S198fs) in three siblings born of consanguineous parents who developed childhood-onset FSGS and end stage renal disease. When the same frameshift mutation was introduced in mice by gene editing, the mice developed FSGS and kidney failure. (Abstract only accessed).; Changed publications: PMID: 30612599, PMID: 17713465 |
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| Proteinuric renal disease v2.0 | TPRKB |
Eleanor Williams commented on gene: TPRKB: TPRKB is associated with Galloway-Mowat syndrome 5 #617731 (AR) in OMIM. PMID: 28805828 - Braun et al 2017 - screened the coding regions of OSGEP, TP53RK, TPRKB and LAGE3 in 907 individuals with early-onset nephrotic syndrome including 91 individuals with GAMOS. Identified 2 biallelic missense variants in TPRKB in 2 families with GAMOS (c.407T>C, p.Leu136Pro and c.446A>6, p.Tyr149Cys). Both sets of parents were heterozgous for the variant. Mouse embryos with knockout of Lage3, Osgep, or Tprkb reproduced the human microcephaly phenotype. No renal phenotype was observed in knockout mice or fish but they hypothesize that this is due to early lethality masking renal involvement that might occur in older animals. Functional studies also showed that knockout of these genes affect cell proliferation. PMID: 30053862 - Hyun et al 2018 - WES on a family with three GAMOS affected siblings found a homozygous missense mutation (NM_033550, c.194A > T, p.Lys65Met) in 2 siblings (3rd not tested). Parents and an unaffected sibling were heterzygous for the variant. All three patients manifested similar phenotypes, including very early-onset nephrotic syndrome, microcephaly, dysmorphic faces, and early fatality. Renal biopsy performed on one patient revealed focal segmental glomerulosclerosis with severe tubulo-interstitial changes. Summary: 3 familial cases. Some functional data. |
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| Hereditary systemic amyloidosis v1.0 | NLRP3 |
Zornitza Stark gene: NLRP3 was added gene: NLRP3 was added to Amyloidosis. Sources: Expert list Mode of inheritance for gene: NLRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NLRP3 were set to 11687797; 28229991; 27435956; 31057541 Phenotypes for gene: NLRP3 were set to Muckle-Wells syndrome Review for gene: NLRP3 was set to GREEN Added comment: Renal amyloidosis described in this disorder. Sources: Expert list |
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| CAKUT v1.43 | NADSYN1 |
Zornitza Stark gene: NADSYN1 was added gene: NADSYN1 was added to CAKUT. Sources: Expert list Mode of inheritance for gene: NADSYN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NADSYN1 were set to 31883644 Phenotypes for gene: NADSYN1 were set to Multiple congenital abnormalities; absent kidneys; cardiac; limb; vertebral Review for gene: NADSYN1 was set to GREEN gene: NADSYN1 was marked as current diagnostic Added comment: Five individuals from four unrelated families. Sources: Expert list |
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| Proteinuric renal disease v2.0 | FN1 |
Zornitza Stark gene: FN1 was added gene: FN1 was added to Proteinuric renal disease. Sources: Expert list Mode of inheritance for gene: FN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FN1 were set to 18268355 Phenotypes for gene: FN1 were set to Glomerulopathy with fibronectin deposits 2, MIM# 601894 Review for gene: FN1 was set to GREEN gene: FN1 was marked as current diagnostic Added comment: Six unrelated families reported; mostly a nephrotic picture with some haematuria. Sources: Expert list |
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| Renal tubulopathies v2.0 | CLDN10 | Zornitza Stark reviewed gene: CLDN10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: HELIX syndrome, MIM# 617671; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.43 | CHRNA3 |
Zornitza Stark gene: CHRNA3 was added gene: CHRNA3 was added to CAKUT. Sources: Expert list Mode of inheritance for gene: CHRNA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHRNA3 were set to 31708116 Phenotypes for gene: CHRNA3 were set to CAKUT; dysautonomia Review for gene: CHRNA3 was set to GREEN gene: CHRNA3 was marked as current diagnostic Added comment: Five affected individuals from three unrelated families. Sources: Expert list |
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| Proteinuric renal disease v2.0 | CD151 | Zornitza Stark reviewed gene: CD151: Rating: GREEN; Mode of pathogenicity: None; Publications: 15265795, 29138120; Phenotypes: Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CACNA2D2 | Zornitza Stark reviewed gene: CACNA2D2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebellar atrophy with seizures and variable developmental delay, MIM#618501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CA5A | Zornitza Stark reviewed gene: CA5A: Rating: RED; Mode of pathogenicity: None; Publications: 26913920; Phenotypes: Hyperammonemia due to carbonic anhydrase VA deficiency, MIM# 615751; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | C8orf37 | Zornitza Stark changed review comment from: Two unrelated individuals reported with BBS; note gene has an association with retinal ciliopathies.; to: Two unrelated individuals reported with BBS; note gene has an association with retinal ciliopathies. Suggested rating Amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | C8orf37 | Zornitza Stark reviewed gene: C8orf37: Rating: ; Mode of pathogenicity: None; Publications: 26854863, 27008867; Phenotypes: Bardet-Biedl syndrome 21, MIM#617406; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | C4orf26 | Zornitza Stark reviewed gene: C4orf26: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Amelogenesis imperfecta, type IIA4, MIM# 614832; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.2 | C3 | Eleanor Williams commented on gene: C3: Green review by Daniel Gale agrees with Green rating and gain of function mode of pathogenicity. Should change the Mode of Pathogenicity to make it clear that Loss of function variants are not associated with the disease phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | C2orf71 | Zornitza Stark reviewed gene: C2orf71: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 54 613428; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.2 | CFB |
Eleanor Williams changed review comment from: Associated with {Hemolytic uremic syndrome, atypical, susceptibility to, 4} (#612924) in OMIM. PMID: 28210841 - Alfakeeh et al 2017 - 7-year-old boy has pathological features compatible with IC-MPGN. A heterozygous variant p.Glu566Arg in exon 13 of the CFB gene was found. PMID: 26283675 - Bu et al 2016 - screened 193 patients using a gene panel facilitate genetic testing in aHUS, TTP, C3GN, and DDD. Report 1 variant found in a patient with aHUS and 3 in patients with C3 glomerulonephritis. Individual patient and variant information not given. PMID: 25758434 - Imamura et al 2015 - 1 family. Daughter diagnosed with C3 glomerulonephritis, mother treated for membranoproliferative glomerulonephritis, and brother with hypocomplementemia without urinary abnormalities. All 3 found to have heterozygosity for CFB p.S367R that was not present in the unaffected father or younger sister. Other variants were found in the daughter, CFI p.R201S and C3 p.V916I were excluded as in other unaffected individuals or appear in high frequency in other populations. They propose that it is highly likely that p.S367R causes a gain of function in CFB through a structure–function relationship.; to: Associated with {Hemolytic uremic syndrome, atypical, susceptibility to, 4} (#612924) in OMIM. PMID: 28210841 - Alfakeeh et al 2017 - 7-year-old boy has pathological features compatible with IC-MPGN. A heterozygous variant p.Glu566Arg in exon 13 of the CFB gene was found. Note (added 29-01-2020) - the 52 year old father was found to have the same heterozygous CFB gene variant but showed no evidence of renal function impairment, proteinuria, hematuria, or hemolysis. PMID: 26283675 - Bu et al 2016 - screened 193 patients using a gene panel facilitate genetic testing in aHUS, TTP, C3GN, and DDD. Report 1 variant found in a patient with aHUS and 3 in patients with C3 glomerulonephritis. Individual patient and variant information not given. PMID: 25758434 - Imamura et al 2015 - 1 family. Daughter diagnosed with C3 glomerulonephritis, mother treated for membranoproliferative glomerulonephritis, and brother with hypocomplementemia without urinary abnormalities. All 3 found to have heterozygosity for CFB p.S367R that was not present in the unaffected father or younger sister. Other variants were found in the daughter, CFI p.R201S and C3 p.V916I were excluded as in other unaffected individuals or appear in high frequency in other populations. They propose that it is highly likely that p.S367R causes a gain of function in CFB through a structure–function relationship. |
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| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.2 | CFH | Eleanor Williams commented on gene: CFH: Following expert review, the mode of inheritance for this gene on this panel should be updated to BIALLELIC only. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.2 | CFI |
Eleanor Williams edited their review of gene: CFI: Added comment: Only renal phenotype in OMIM this gene is associated with is {Hemolytic uremic syndrome, atypical, susceptibility to, 3} 612923. Papers cited by the BRIDGE consortium PMID: 18371543 - Boyer et al 2008 - Patient 1 with atypical hemolytic and uremic syndrome had combined CFH and CFI heterozygous mutations. PMID: 22456601 - Servais et al 2012 - for 141 patients from 45 centers with a definite diagnosis of primary MPGN I, DDD, or GNC3 they performed direct sequencing of CFH, CFI, or MCP exons and of a set of 10 SNPs within the CFH and MCP genes. 6 patients had heterozygous variants in CFI, 3 of which are reported in patients with MPGN histology (Table 2). Following expert review rating this gene Red, and review of the literature this gene should be down graded to Amber or Red.; Changed rating: RED |
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| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.2 | DGKE |
Eleanor Williams edited their review of gene: DGKE: Added comment: Recent review by Daniel Gale rates the gene green so no change in rating. Checking mode of inheritance: PMID: 23274426 - Ozaltin et al 2013 - 3 consanguineous families - 3 different homozygous variants in 9 individuals. PMID: 28526779 - Azukaitis et al 2017 - review of 24 patients with aHUS/MPGN and variants in DGKE. The 9 cases with MPGN-like renal biopsies are those reported in Ozaltin et al 2013 Other papers cited by BRIDGE review are related to aHUS only (PMID: 23542698 and 21902819) OMIM lists the mode of inheritance for Nephrotic syndrome, type 7, #615008 as AR. Therefore, the mode of inheritance should be updated to BIALLELIC only.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal |
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| Atypical haemolytic uraemic syndrome v2.1 | CFHR5 | Eleanor Williams reviewed gene: CFHR5: Rating: AMBER; Mode of pathogenicity: None; Publications: 20513133, 22622361, 30905589, 29500241; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.1 | ADAMTS13 | Eleanor Williams commented on gene: ADAMTS13 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v1.1 | BNC2 | Eleanor Williams Phenotypes for gene: BNC2 were changed from Posterior urethral valves; PUV; Congenital lower urinary-tract obstruction to Posterior urethral valves; PUV; Congenital lower urinary-tract obstruction; Lower urinary tract obstruction, congenital, 618612 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.43 | BNC2 | Eleanor Williams Phenotypes for gene: BNC2 were changed from Posterior urethral valves; PUV; Congenital lower urinary-tract obstruction to Posterior urethral valves; PUV; Congenital lower urinary-tract obstruction; Lower urinary tract obstruction, congenital, 618612 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | C2CD3 | Zornitza Stark reviewed gene: C2CD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30097616, 27094867, 26477546, 24997988,; Phenotypes: Orofaciodigital syndrome XIV, MIM# 615948; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | C19orf12 | Zornitza Stark reviewed gene: C19orf12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 4, MIM#614298; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | BMPR1B | Zornitza Stark reviewed gene: BMPR1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Acromesomelic dysplasia, Demirhan type MIM#609441, Brachydactyly, type A1, D, MIM#616849, Brachydactyly, type A2, MIM# 112600; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | BMPER | Zornitza Stark reviewed gene: BMPER: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diaphanospondylodysostosis, MIM# 608022; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | BICD2 | Zornitza Stark reviewed gene: BICD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM#615290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | BHLHA9 | Zornitza Stark reviewed gene: BHLHA9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Syndactyly, mesoaxial synostotic, with phalangeal reduction, MIM# 609432; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | BGN | Zornitza Stark reviewed gene: BGN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meester-Loeys syndrome, MIM# 300989, Spondyloepimetaphyseal dysplasia, X-linked, MIM#300106; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | BFSP2 | Zornitza Stark reviewed gene: BFSP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cataract 12, multiple types, MIM# 611597; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | BCORL1 | Zornitza Stark reviewed gene: BCORL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24123876, 30941876; Phenotypes: Shukla-Vernon syndrome, MIM# 301029; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | B9D2 |
Zornitza Stark gene: B9D2 was added gene: B9D2 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: B9D2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B9D2 were set to 26092869; 21763481 Phenotypes for gene: B9D2 were set to Joubert syndrome 34, MIM#614175; Meckel syndrome 10, MIM#614175 Review for gene: B9D2 was set to GREEN gene: B9D2 was marked as current diagnostic Added comment: Two unrelated individuals with Joubert syndrome and bi-allelic variants reported; single family with two affected individuals also reported with homozygous variant in this gene and more severe Meckel phenotype, overall supporting gene-disease association for a ciliopathy with CNS involvement. ID is part of the phenotype of these conditions. Sources: Expert list |
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| Intellectual disability v3.0 | B9D1 | Zornitza Stark reviewed gene: B9D1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24886560, 21493627; Phenotypes: Joubert syndrome 27, MIM#617120, Meckel syndrome 9, MIM#614209; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.2 | MYRF | Ivone Leong Phenotypes for gene: MYRF were changed from Nanophthalmos to Nanophthalmos; High hyperopia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.1 | MYRF | Ivone Leong Publications for gene: MYRF were set to 31266062 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.23 | MYRF | Ivone Leong Classified gene: MYRF as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.23 | MYRF | Ivone Leong Added comment: Comment on list classification: Comment on list classification: New gene added by expert reviewer. This gene has been given a Green rating based on the level of evidence to support gene-disease association and also that it is also a Green gene on the GMS Structural eye disease (v1.0, code: 509). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.23 | MYRF | Ivone Leong Gene: myrf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.22 | MYRF | Ivone Leong Publications for gene: MYRF were set to PMID: 31048900, 31172260, 31700225 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Glaucoma (developmental) v1.7 | CPAMD8 | Ivone Leong Classified gene: CPAMD8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Glaucoma (developmental) v1.7 | CPAMD8 | Ivone Leong Added comment: Comment on list classification: New gene added by expert reviewer. This gene has been given a Green rating based on the level of evidence to support gene-disease association and also that it is also a Green gene on the GMS Structural eye disease (v1.0, code: 509). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Glaucoma (developmental) v1.7 | CPAMD8 | Ivone Leong Gene: cpamd8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v1.0 | IKZF5 | Louise Daugherty reviewed gene: IKZF5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Glaucoma (developmental) v1.6 | CPAMD8 | Ivone Leong Phenotypes for gene: CPAMD8 were changed from Glaucoma; anterior segment dysgenesis; retinal detachment; cataract to Glaucoma; anterior segment dysgenesis 8, 617319; retinal detachment; cataract | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | ATP8B1 | Zornitza Stark reviewed gene: ATP8B1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cholestasis, benign recurrent intrahepatic, MIM# 243300, Cholestasis, intrahepatic, of pregnancy, 1, MIM#147480, Cholestasis, progressive familial intrahepatic 1, MIM# 211600; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | ATP6V1B1 | Zornitza Stark reviewed gene: ATP6V1B1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal tubular acidosis with deafness 267300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | ATP6AP1 |
Zornitza Stark gene: ATP6AP1 was added gene: ATP6AP1 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: ATP6AP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ATP6AP1 were set to 27231034 Phenotypes for gene: ATP6AP1 were set to Immunodeficiency 47, MIM#300972 Review for gene: ATP6AP1 was set to GREEN gene: ATP6AP1 was marked as current diagnostic Added comment: 11 males from 6 unrelated families with primarily an immunodeficiency disorder; six patients from 3 families who carried the same variant (E346K) had neurologic features, including seizures, mild intellectual disability, and behavioral abnormalities Sources: Expert list |
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| Intellectual disability v3.0 | ATP1A2 | Zornitza Stark reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alternating hemiplegia of childhood 1, MIM# 104290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | ATAD1 |
Zornitza Stark gene: ATAD1 was added gene: ATAD1 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: ATAD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATAD1 were set to 28180185 Phenotypes for gene: ATAD1 were set to Hyperekplexia 4, MIM#618011 Review for gene: ATAD1 was set to GREEN Added comment: Severe progressive neurological disorder, severe/profound intellectual disability is a feature Sources: Expert list |
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| Monogenic hearing loss v2.4 | SOX2 | Zornitza Stark reviewed gene: SOX2: Rating: AMBER; Mode of pathogenicity: None; Publications: 30262714, 16932809, 16145681; Phenotypes: Microphthalmia, syndromic 3, MIM# 206900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | SNAI2 | Zornitza Stark reviewed gene: SNAI2: Rating: AMBER; Mode of pathogenicity: None; Publications: 12444107, 30936914; Phenotypes: Waardenburg syndrome, type 2D, MIM# 608890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | SLITRK6 | Zornitza Stark reviewed gene: SLITRK6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23543054, 29551497; Phenotypes: Deafness and myopia, MIM#221200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | SIX5 | Zornitza Stark reviewed gene: SIX5: Rating: RED; Mode of pathogenicity: None; Publications: 17357085, 24429398, 21280147, 14704431, 17357085, 11950062; Phenotypes: Branchiootorenal syndrome 2, MIM#610896; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | PMP22 | Zornitza Stark reviewed gene: PMP22: Rating: AMBER; Mode of pathogenicity: None; Publications: 8355122, 10330345, 12578939; Phenotypes: Charcot-Marie-Tooth disease, type 1E 118300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | ASTN1 |
Zornitza Stark gene: ASTN1 was added gene: ASTN1 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: ASTN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASTN1 were set to 29706646; 27431290; 26539891 Phenotypes for gene: ASTN1 were set to Intellectual disability Review for gene: ASTN1 was set to GREEN gene: ASTN1 was marked as current diagnostic Added comment: Three families reported as part of large cohorts albeit proposing multiple novel candidate genes with minimal detail and no functional validation. Sources: Expert list |
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| Intellectual disability v3.0 | ARHGEF6 | Zornitza Stark reviewed gene: ARHGEF6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: MENTAL RETARDATION X-LINKED TYPE 46; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | FOXI1 | Zornitza Stark reviewed gene: FOXI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29242249, 9843211, 17503324; Phenotypes: Enlarged vestibular aqueduct 600791, deafness, renal tubular acidosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | FDXR |
Zornitza Stark gene: FDXR was added gene: FDXR was added to Hearing loss. Sources: Expert list Mode of inheritance for gene: FDXR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FDXR were set to 28965846 Phenotypes for gene: FDXR were set to Auditory neuropathy and optic atrophy, MIM# 617717 Review for gene: FDXR was set to GREEN gene: FDXR was marked as current diagnostic Added comment: 8 individuals from 4 unrelated families reported, onset of symptoms in first/second decades. Sources: Expert list |
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| Monogenic hearing loss v2.4 | ESRP1 |
Zornitza Stark gene: ESRP1 was added gene: ESRP1 was added to Hearing loss. Sources: Expert list Mode of inheritance for gene: ESRP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ESRP1 were set to 29107558 Phenotypes for gene: ESRP1 were set to Deafness, autosomal recessive 109, MIM# 618013 Review for gene: ESRP1 was set to AMBER Added comment: Single family reported with affected sibs, mouse model. Amber or Red. Sources: Expert list |
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| Monogenic hearing loss v2.4 | COL9A1 | Zornitza Stark reviewed gene: COL9A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stickler syndrome, type IV, MIM#614134; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | COL2A1 | Zornitza Stark reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27408751; Phenotypes: Stickler syndrome, type I, MIM108300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | COL11A1 | Zornitza Stark reviewed gene: COL11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30245514; Phenotypes: Stickler syndrome, type II, MIM#604841, Deafness, autosomal dominant 37, MIM#618533; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | CISD2 | Zornitza Stark reviewed gene: CISD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25371195; Phenotypes: Wolfram syndrome 2, MIM# 604928; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | HOMER2 |
Eleanor Williams changed review comment from: Provisional association with ?Deafness, autosomal dominant 68 #616707 (AD) in OMIM. 2 families reported: PMID: 25816005 - Azaiez et al 2015 - one family with post-lingual progressive autosomal dominant non-syndromic hearing loss and a missense variant p.Arg185Pro in HOMER2 PMID: 30047143 - Lue et al 2018 - Chinese family with autosomal dominant, non-syndromic hearing loss and a pathogenic variant c.840_841insC in HOMER2 that leads to a premature stop codon). Azaiez et al 2015 also report mouse mutants homozygous for the targeted deletion of Homer2 present with early-onset rapidly progressive hearing loss.; to: Provisional association with ?Deafness, autosomal dominant 68 #616707 (AD) in OMIM. 2 families reported: PMID: 25816005 - Azaiez et al 2015 - one family with post-lingual progressive autosomal dominant non-syndromic hearing loss and a missense variant p.Arg185Pro in HOMER2 PMID: 30047143 - Lue et al 2018 - Chinese family with autosomal dominant, non-syndromic hearing loss and a pathogenic variant c.840_841insC in HOMER2 that leads to a premature stop codon). Azaiez et al 2015 also report mouse mutants homozygous for the targeted deletion of Homer2 present with early-onset rapidly progressive hearing loss. Age-matched WT and Homer2 +/- animals showed no differences in electrophysiological hearing tests. |
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| Monogenic hearing loss v2.4 | HOMER2 | Eleanor Williams reviewed gene: HOMER2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related v0.108 | MEN1 | Sarah Leigh changed review comment from: Comment on phenotypes: Clinically relevant transcript NM_000244.3; to: Comment on phenotypes: Clinically relevant transcript NM_000244.3. This has been supersceded by NM_130799.2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | HARS2 |
Eleanor Williams edited their review of gene: HARS2: Added comment: 6 new cases, so now 8 independent cases, which is sufficient to rate green. New cases: PMID: 31827252 - Demain et al 2019 - 3 unrelated families each with compound heterozygous variants in HARS2 in affected members. All 3 families share the c.1439G>A p.(Arg480His) (NM_012208.3) variant along with other likely pathogenic variants. PMID: 31449985 - Karstensen et al 2019 - three novel families, compound heterozygous for missense variants in HARS2 and early onset, rapidly progressive hearing impairment in the five affected individuals. Premature ovarian insufficiency was also seen in some individuals.; Changed rating: GREEN |
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| Monogenic hearing loss v2.4 | EPS8L2 | Eleanor Williams reviewed gene: EPS8L2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | ELMOD3 | Eleanor Williams reviewed gene: ELMOD3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | ANKH | Zornitza Stark reviewed gene: ANKH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniometaphyseal dysplasia, MIM#123000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | DMXL2 | Eleanor Williams reviewed gene: DMXL2: Rating: AMBER; Mode of pathogenicity: None; Publications: 27657680, 31688942; Phenotypes: ?Deafness, autosomal dominant 71, 617605; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | COL4A6 | Eleanor Williams edited their review of gene: COL4A6: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | COL4A6 |
Eleanor Williams changed review comment from: Provisionally associated with ?Deafness, X-linked 6 #300914 (XLR) in OMIM. Only 1 family reported in PMID: 23714752 - Rost et al 2014 - a Hungarian three-generation family with X-linked nonsyndromic congenital hearing loss with a missense mutation (c.1771G>A, p.Gly591Ser) in COL4A6 in all affected family members. In situ hybridization and immunostaining demonstrated expression of the COL4A6 homologs in the otic vesicle of the zebrafish and in the murine inner ear, supporting its role in normal ear development and function. Pubmed search didn’t find any other cases.; to: Provisionally associated with ?Deafness, X-linked 6 #300914 (XLR) in OMIM. Only 1 family reported in PMID: 23714752 - Rost et al 2014 - a Hungarian three-generation family with X-linked nonsyndromic congenital hearing loss with a missense mutation (c.1771G>A, p.Gly591Ser) in COL4A6 in all affected family members. In situ hybridization and immunostaining demonstrated expression of the COL4A6 homologs in the otic vesicle of the zebrafish and in the murine inner ear, supporting its role in normal ear development and function. Pubmed search didn’t find any other cases. |
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| Monogenic hearing loss v2.4 | COL4A6 | Eleanor Williams commented on gene: COL4A6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | CDC14A | Eleanor Williams reviewed gene: CDC14A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29293958, 27259055; Phenotypes: Deafness, autosomal recessive 32, with or without immotile sperm, 608653; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | AIFM1 | Eleanor Williams reviewed gene: AIFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25986071; Phenotypes: Deafness, X-linked 5, 300614; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | ALKBH8 | Zornitza Stark reviewed gene: ALKBH8: Rating: GREEN; Mode of pathogenicity: None; Publications: 31079898; Phenotypes: Intellectual developmental disorder, autosomal recessive 71, MIM# 618504; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | ALG9 | Zornitza Stark reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28932688; Phenotypes: Congenital disorder of glycosylation, type Il, MIM#608776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related v0.108 | VHL | Catherine Snow Transcript for gene VHL was changed from ENST00000256474.2 to ENST00000256474.2; NM_000551.3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related v0.107 | RET | Catherine Snow Transcript for gene RET was changed from ENST00000355710.8 to ENST00000355710.8; NM_020975.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related v0.106 | PCSK9 | Catherine Snow Transcript for gene PCSK9 was changed from ENST00000302118.5 to ENST00000302118.5; NM_174936.3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related v0.105 | MUTYH | Catherine Snow Transcript for gene MUTYH was changed from ENST00000450313.5 to ENST00000450313.5; NM_001128425.1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related v0.104 | MSH6 | Catherine Snow Transcript for gene MSH6 was changed from ENST00000234420.9 to ENST00000234420.9; NM_000179.2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related v0.103 | MSH2 | Catherine Snow Transcript for gene MSH2 was changed from ENST00000233146.6 to ENST00000233146.6; NM_000251.2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related v0.102 | MLH1 | Catherine Snow Transcript for gene MLH1 was changed from ENST00000231790.6 to ENST00000231790.6; NM_000249.3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related v0.101 | MEN1 | Catherine Snow Transcript for gene MEN1 was changed from None to NM_130799.2; ENST00000312049.10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related v0.99 | LDLR | Catherine Snow Transcript for gene LDLR was changed from ENST00000558518.5 to ENST00000558518.5; NM_000527.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related v0.98 | CFTR | Catherine Snow Transcript for gene CFTR was changed from NM_000492.3 to ENST00000003084.10; NM_000492.3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related v0.97 | BRCA2 | Catherine Snow Transcript for gene BRCA2 was changed from ENST00000544455.5 to ENST00000544455.5; NM_000059.3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related v0.96 | BRCA1 | Catherine Snow Transcript for gene BRCA1 was changed from ENST00000357654.8 to ENST00000357654.8; NM_007294.3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related v0.95 | APOB | Catherine Snow Transcript for gene APOB was changed from ENST00000233242.5 to ENST00000233242.5; NM_000384.2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related v0.94 | APC | Catherine Snow Transcript for gene APC was changed from ENST00000257430.9 to ENST00000257430.9; NM_000038.5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related v0.93 | CFTR |
Catherine Snow Source Carrier Status was removed from CFTR. Source Expert Review was added to CFTR. Transcript for gene CFTR was changed from None to NM_000492.3 |
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| Pyruvate dehydrogenase (PDH) deficiency v1.1 | Ellen McDonagh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | ALG14 |
Zornitza Stark gene: ALG14 was added gene: ALG14 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG14 were set to 30221345; 23404334; 28733338 Phenotypes for gene: ALG14 were set to Myasthenic syndrome, congenital, 15, without tubular aggregates, MIM#616227; Intellectual disability Review for gene: ALG14 was set to GREEN gene: ALG14 was marked as current diagnostic Added comment: 5 individuals from unrelated families described in the literature: one with myasthenic syndrome, no report of ID; second with predominantly ID phenotype; and three more with a neurodegenerative phenotype. Sources: Expert list |
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| Intellectual disability v3.0 | ALDOB | Zornitza Stark changed review comment from: Metabolic decompensation on exposure to fructose, including hypoglycaemia, but ID is not an intrinsic feature of this condition.; to: Metabolic decompensation on exposure to fructose, including hypoglycaemia, but ID is not an intrinsic feature of this condition. ID only reported in the absence of treatment. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | ALDOB | Zornitza Stark reviewed gene: ALDOB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fructose intolerance, hereditary, MIM# 229600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | AHCY | Zornitza Stark reviewed gene: AHCY: Rating: ; Mode of pathogenicity: None; Publications: 31957987, 27671891, 30121674, 28779239; Phenotypes: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#613752; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | AGPS | Zornitza Stark reviewed gene: AGPS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Rhizomelic chondrodysplasia punctata, type 3, MIM#600121; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | AGMO |
Zornitza Stark gene: AGMO was added gene: AGMO was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: AGMO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGMO were set to 31555905 Phenotypes for gene: AGMO were set to microcephaly; intellectual disability; epilepsy Review for gene: AGMO was set to GREEN gene: AGMO was marked as current diagnostic Added comment: Three unrelated families and functional data. Sources: Expert list |
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| Intellectual disability v3.0 | AGL | Zornitza Stark reviewed gene: AGL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease IIIa, MIM# 232400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | AFG3L2 | Zornitza Stark reviewed gene: AFG3L2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic ataxia 5, autosomal recessive, MIM#614487; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | ADGRG6 | Zornitza Stark reviewed gene: ADGRG6: Rating: RED; Mode of pathogenicity: None; Publications: 30549416; Phenotypes: Lethal congenital contracture syndrome 9, OMIM #616503; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | ADD3 |
Zornitza Stark gene: ADD3 was added gene: ADD3 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: ADD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADD3 were set to 29768408; 23836506 Phenotypes for gene: ADD3 were set to Cerebral palsy, spastic quadriplegic, 3, MIM#617008 Review for gene: ADD3 was set to GREEN gene: ADD3 was marked as current diagnostic Added comment: Four families reported in the literature with bi-allelic variants in this gene causing intellectual disability. Sources: Expert list |
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| Intellectual disability v3.0 | ADCY5 | Zornitza Stark reviewed gene: ADCY5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskinesia, familial, with facial myokymia, MIM#606703; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | ADAMTS10 |
Zornitza Stark gene: ADAMTS10 was added gene: ADAMTS10 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: ADAMTS10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAMTS10 were set to Weill-Marchesani syndrome 1, recessive, MIM#277600 Review for gene: ADAMTS10 was set to AMBER Added comment: Mild intellectual disability is described in around 10% of affected individuals. Sources: Expert list |
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| Intellectual disability v3.0 | ACADSB | Zornitza Stark reviewed gene: ACADSB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: 2-methylbutyrylglycinuria, MIM# 610006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | ABCC6 | Zornitza Stark reviewed gene: ABCC6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arterial calcification, generalized, of infancy, 2, MIM#614473, Pseudoxanthoma elasticum, MIM#264800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | ABAT | Zornitza Stark reviewed gene: ABAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 10407778, 20052547, 27596361, 28411234,; Phenotypes: GABA-transaminase deficiency, MIM#613163; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | SLC39A8 |
Zornitza Stark gene: SLC39A8 was added gene: SLC39A8 was added to Genetic epilepsy syndromes. Sources: Expert Review Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC39A8 were set to 26637978; 26637979 Phenotypes for gene: SLC39A8 were set to Congenital disorder of glycosylation, type IIn , MIM#16721 Review for gene: SLC39A8 was set to GREEN gene: SLC39A8 was marked as current diagnostic Added comment: 6 individuals from Hutterite descent and two other unrelated families reported. Seizures reported in 2 Hutterite individuals and also in the other two unrelated families. Sources: Expert Review |
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| Early onset or syndromic epilepsy v2.0 | PIGS |
Zornitza Stark gene: PIGS was added gene: PIGS was added to Genetic epilepsy syndromes. Sources: Expert list Mode of inheritance for gene: PIGS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGS were set to 30269814 Phenotypes for gene: PIGS were set to Glycosylphosphatidylinositol biosynthesis defect 18, MIM# 618143 Review for gene: PIGS was set to GREEN gene: PIGS was marked as current diagnostic Added comment: Three unrelated families reported. Severe neurological phenotype ranging from fetal akinesia (one family) to ID/EE (two families). Although pregnancies were terminated in one family, features observed in the affected fetuses suggest a severe neurological phenotype and hence we have rated this gene Green on our Epilepsy and our ID panels. I have added the gene to your CDG panel. Sources: Expert list |
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| Congenital disorders of glycosylation v2.0 | PIGS |
Zornitza Stark gene: PIGS was added gene: PIGS was added to Congenital disorders of glycosylation. Sources: Expert list Mode of inheritance for gene: PIGS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGS were set to 30269814 Phenotypes for gene: PIGS were set to Glycosylphosphatidylinositol biosynthesis defect 18 618143 Review for gene: PIGS was set to GREEN gene: PIGS was marked as current diagnostic Added comment: Three unrelated families reported. Severe neurological phenotype ranging from fetal akinesia to ID/EE. Sources: Expert list |
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| Early onset or syndromic epilepsy v2.0 | WDR45B | Zornitza Stark reviewed gene: WDR45B: Rating: GREEN; Mode of pathogenicity: None; Publications: 21937992, 28503735, 27431290; Phenotypes: Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, MIM# 617977; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | UGP2 | Zornitza Stark reviewed gene: UGP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31820119; Phenotypes: Epileptic encephalopathy, intellectual disability, microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v1.0 | IKZF5 |
Kate Downes gene: IKZF5 was added gene: IKZF5 was added to Bleeding and platelet disorders. Sources: Expert Review,Literature Mode of inheritance for gene: IKZF5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: IKZF5 were set to 1217188 Phenotypes for gene: IKZF5 were set to Thrombocytopenia (HP:0001873), Reduced platelet alpha granules (HP:0012528). Penetrance for gene: IKZF5 were set to unknown Mode of pathogenicity for gene: IKZF5 was set to Other Review for gene: IKZF5 was set to GREEN Added comment: Lentaigne C, et al., 2019 details the association of thrombocytopenia with missense variants in the IKZF5 transcription factor. Five different missense variants in or near the IKZF5 zinc finger domains are reported in five independent probands. Co-segregation studies indicate that two variants occurred de novo and three co-segregate across large pedigrees. Mode of pathogenicity is unknown. Sources: Expert Review, Literature |
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| Early onset or syndromic epilepsy v2.0 | TUBA8 | Zornitza Stark edited their review of gene: TUBA8: Added comment: Another affected individual reported as part of a bigger brain malformations cohort.; Changed publications: 31481326 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | TRPM3 | Zornitza Stark reviewed gene: TRPM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31278393; Phenotypes: Intellectual disability, epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | TIMM50 | Zornitza Stark Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | TIMM50 | Zornitza Stark commented on gene: TIMM50: At least 4 families reported, seizures in all reported individuals. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | TIMM50 | Zornitza Stark edited their review of gene: TIMM50: Added comment: More families reported, supporting gene-disease association; note seizures reported in all.; Changed rating: GREEN; Changed publications: 27573165, 30190335, 31058414 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | ST3GAL3 | Zornitza Stark edited their review of gene: ST3GAL3: Added comment: Additional family reported recently with seizure phenotype.; Changed rating: AMBER; Changed publications: 23252400, 31584066 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | SLC5A6 |
Zornitza Stark gene: SLC5A6 was added gene: SLC5A6 was added to Genetic epilepsy syndromes. Sources: Expert list Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC5A6 were set to 31754459; 27904971 Phenotypes for gene: SLC5A6 were set to Developmental delay; epilepsy; neurodegeneration Review for gene: SLC5A6 was set to GREEN gene: SLC5A6 was marked as current diagnostic Added comment: Two unrelated families reported, functional data and some evidence of response to treatment. Sources: Expert list |
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| Early onset or syndromic epilepsy v2.0 | SETD5 | Zornitza Stark reviewed gene: SETD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 29484850; Phenotypes: Intellectual disability, autosomal dominant 23 (MIM # 615761); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | SETD1B | Zornitza Stark edited their review of gene: SETD1B: Added comment: Another individual with a de novo variant in this gene and epilepsy reported in 31440728 bringing the total to three, and possibly two more in 31685013.; Changed rating: GREEN; Changed publications: 29322246, 31440728, 31685013; Changed phenotypes: Epilepsy with myoclonic absences, intellectual disability; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | SETD1A |
Zornitza Stark gene: SETD1A was added gene: SETD1A was added to Genetic epilepsy syndromes. Sources: Expert list Mode of inheritance for gene: SETD1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SETD1A were set to 31197650 Phenotypes for gene: SETD1A were set to Epilepsy Review for gene: SETD1A was set to GREEN gene: SETD1A was marked as current diagnostic Added comment: Four unrelated families reported: in three, the variants occurred de novo, and in the fourth, it segregated with disease. Some functional data. Sources: Expert list |
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| Early onset or syndromic epilepsy v2.0 | RNF13 | Zornitza Stark reviewed gene: RNF13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30595371; Phenotypes: Epileptic encephalopathy, early infantile, 73, MIM# 618379; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | PTEN |
Zornitza Stark commented on gene: PTEN: Cowden and BRRS are germline PTEN-related conditions and can present with macrocephaly/neurodevelopmental phenotype in childhood, including ID/autism and sometimes seizures as outlined in the previous reviews. The associated cancer risk makes the condition important to diagnose. There are also somatic PTEN-related conditions such as Proteus, but these are not under consideration for this panel. One of the reviews below refers to AKT1, which is confusing. |
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| Early onset or syndromic epilepsy v2.0 | NUP214 |
Zornitza Stark gene: NUP214 was added gene: NUP214 was added to Genetic epilepsy syndromes. Sources: Expert list Mode of inheritance for gene: NUP214 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP214 were set to 31178128; 30758658 Phenotypes for gene: NUP214 were set to Encephalopathy, acute, infection-induced, susceptibility to, 9, MIM# 618426; epileptic encephalopathy; developmental regression; microcephaly Review for gene: NUP214 was set to GREEN gene: NUP214 was marked as current diagnostic Added comment: Three unrelated families reported. Sources: Expert list |
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| Early onset or syndromic epilepsy v2.0 | NEDD4L | Zornitza Stark edited their review of gene: NEDD4L: Added comment: Seizures are a frequently reported feature in this brain development disorder.; Changed publications: 28515470, 23934111, 28212375, 27694961 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | NEUROD2 |
Zornitza Stark gene: NEUROD2 was added gene: NEUROD2 was added to Genetic epilepsy syndromes. Sources: Expert list Mode of inheritance for gene: NEUROD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NEUROD2 were set to 30323019; 16504944 Phenotypes for gene: NEUROD2 were set to Epileptic encephalopathy, early infantile, 72, MIM# 618374 Review for gene: NEUROD2 was set to GREEN gene: NEUROD2 was marked as current diagnostic Added comment: Two unrelated individuals with de novo missense variants in this gene, two animal models. Sources: Expert list |
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| Early onset or syndromic epilepsy v2.0 | MTHFS | Zornitza Stark reviewed gene: MTHFS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30031689, 31844630, 22303332; Phenotypes: Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | MED17 | Zornitza Stark reviewed gene: MED17: Rating: GREEN; Mode of pathogenicity: None; Publications: 30345598; Phenotypes: Microcephaly postnatal progressive with seizures and brain atrophy, 613668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | MAGI2 | Zornitza Stark reviewed gene: MAGI2: Rating: RED; Mode of pathogenicity: None; Publications: 31056551; Phenotypes: Epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v1.0 | HFE2 | Louise Daugherty Tag new-gene-name tag was added to gene: HFE2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v1.0 | HFE2 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v1.0 | HFE2 | Louise Daugherty commented on gene: HFE2: Added new-gene-name tag, new approved HGNC gene symbol for HFE2 is HJV | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v1.0 | SEC61A1 | Zornitza Stark reviewed gene: SEC61A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30586318; Phenotypes: Familial juvenile Hyperuricemic nephropathy-4 MIM 617056; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v1.0 | DNAJB11 | Zornitza Stark reviewed gene: DNAJB11: Rating: GREEN; Mode of pathogenicity: None; Publications: 29706351; Phenotypes: Tubulointerstitial disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained kidney failure in young people v1.82 | VIPAS39 | Zornitza Stark reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: None; Publications: 20190753; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 2, MIM# 613404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.0 | SLC2A2 |
Zornitza Stark gene: SLC2A2 was added gene: SLC2A2 was added to Renal tubulopathies. Sources: Expert list Mode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC2A2 were set to Fanconi-Bickel syndrome, MIM# 227810 Review for gene: SLC2A2 was set to GREEN Added comment: Well established renal tubulopathy gene. Sources: Expert list |
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| Early onset or syndromic epilepsy v2.0 | GRIA2 | Zornitza Stark reviewed gene: GRIA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31300657; Phenotypes: Intellectual disability, autism, Rett-like features, epileptic encephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - childhood onset v2.0 | PTRH2 | Louise Daugherty reviewed gene: PTRH2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v1.0 | KIF23 | Louise Daugherty commented on gene: KIF23: Substantial support from all four GLHs that this gene should be Green, so will remain Green. However, The gene will be flagged up for discussion at the next iteration (version) of this panel to be used for GMS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 | RC3H1 | Louise Daugherty reviewed gene: RC3H1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 | SLC39A7 | Louise Daugherty reviewed gene: SLC39A7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 | PSMB10 | Louise Daugherty reviewed gene: PSMB10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 | SNORA31 | Louise Daugherty reviewed gene: SNORA31: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 | IL6ST | Louise Daugherty reviewed gene: IL6ST: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 | IL6R | Louise Daugherty reviewed gene: IL6R: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 | ZNF341 | Louise Daugherty reviewed gene: ZNF341: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | GLS |
Zornitza Stark gene: GLS was added gene: GLS was added to Genetic epilepsy syndromes. Sources: Expert list Mode of inheritance for gene: GLS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLS were set to 30575854 Phenotypes for gene: GLS were set to Epileptic encephalopathy, early infantile, 71, MIM# 618328 Review for gene: GLS was set to AMBER Added comment: Three individuals from two unrelated families reported with early neonatal refractory seizures, structural brain abnormalities and oedema; significantly increased glutamine levels. Sources: Expert list |
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| Early onset or syndromic epilepsy v2.0 | GABRB1 | Zornitza Stark reviewed gene: GABRB1: Rating: ; Mode of pathogenicity: None; Publications: 23934111, 27273810, 31618474; Phenotypes: Epileptic encephalopathy, early infantile, 45, MIM# 617153; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | FOXRED1 | Zornitza Stark edited their review of gene: FOXRED1: Added comment: A couple more cases reported in the literature in 2019 bringing the total to 6, including another one with seizures are part of the phenotype (31434271).; Changed rating: GREEN; Changed publications: 20858599, 20818383, 31434271 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | FGFR3 | Zornitza Stark edited their review of gene: FGFR3: Added comment: This condition is well documented as being associated with epilepsy. It can be difficult to recognise clinically, particularly in infancy and therefore we consider this gene merits as much inclusion in an Epilepsy panel as other syndromic diagnoses (e.g. EFTUD2 etc).; Changed publications: 24630288, 27485793, 23649205, 12794698 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | FDFT1 | Zornitza Stark reviewed gene: FDFT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29909962; Phenotypes: Squalene synthase deficiency, MIM# 618156; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | EXT2 | Zornitza Stark reviewed gene: EXT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26246518, 30288735, 30997052; Phenotypes: Seizures, scoliosis, and macrocephaly syndrome, MIM# 616682; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | DOLK | Zornitza Stark edited their review of gene: DOLK: Added comment: Early presentation with seizures and demise reported in some individuals. Transferrin isoforms are not a reliable test in the newborn period to guide appropriate genomic analysis towards a CDG/metabolic panel; we also note the 25% recurrence risk, and hence we have included this gene as Green on our panel.; Changed publications: 23890587, 28816422, 24144945 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.0 | ADAMTS9 |
Zornitza Stark gene: ADAMTS9 was added gene: ADAMTS9 was added to Renal ciliopathies. Sources: Expert list Mode of inheritance for gene: ADAMTS9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS9 were set to 30609407 Phenotypes for gene: ADAMTS9 were set to Nephronophthisis-Related Ciliopathy Review for gene: ADAMTS9 was set to GREEN gene: ADAMTS9 was marked as current diagnostic Added comment: Two families reported with functional evidence Sources: Expert list |
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| Early onset or syndromic epilepsy v2.0 | DMXL2 | Zornitza Stark reviewed gene: DMXL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31688942, 30237576; Phenotypes: Epileptic encephalopathy, early infantile, 81, MIM# 618663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | DLL1 | Zornitza Stark reviewed gene: DLL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31353024; Phenotypes: Intellectual disability, autism, seizures, variable brain abnormalities, scoliosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | DEAF1 | Zornitza Stark reviewed gene: DEAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30923367; Phenotypes: Dyskinesia, seizures, and intellectual developmental disorder 617171, autosomal dominant mental retardation 24, MIM# 615828; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi-organ autoimmune diabetes v1.8 | STAT3 | Ivone Leong Publications for gene: STAT3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | SCN8A | Zornitza Stark reviewed gene: SCN8A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31625145; Phenotypes: Epileptic encephalopathy, early infantile, 13, MIM# 614558, dominant and recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | STXBP1 | Zornitza Stark reviewed gene: STXBP1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31855252; Phenotypes: Epileptic encephalopathy, early infantile, 4, MIM#612164; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | CPLX1 |
Zornitza Stark gene: CPLX1 was added gene: CPLX1 was added to Genetic epilepsy syndromes. Sources: Expert list Mode of inheritance for gene: CPLX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPLX1 were set to 26539891; 28422131 Phenotypes for gene: CPLX1 were set to Epileptic encephalopathy, early infantile, 63, MIM# 617976 Review for gene: CPLX1 was set to GREEN gene: CPLX1 was marked as current diagnostic Added comment: Five individuals from three unrelated families reported in larger neurodevelopmental cohorts. Sources: Expert list |
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| Early onset or syndromic epilepsy v2.0 | AGMO |
Zornitza Stark gene: AGMO was added gene: AGMO was added to Genetic epilepsy syndromes. Sources: Expert list Mode of inheritance for gene: AGMO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGMO were set to 31555905; 27000257 Phenotypes for gene: AGMO were set to microcephaly; intellectual disability; epilepsy Review for gene: AGMO was set to AMBER Added comment: Three unrelated families reported, though epilepsy not an invariable feature. Sources: Expert list |
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| Ultra-rare undescribed monogenic disorders v1.1 | Ellen McDonagh Panel types changed to Rare Disease 100K | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.6 | DRAM2 | Andrew Webster reviewed gene: DRAM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25983245, 26720460, 31394102; Phenotypes: macular dystrophy, cone-dystrophy, cone-rod dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 | ZNF341 |
Owen Siggs gene: ZNF341 was added gene: ZNF341 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: ZNF341 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF341 were set to 29907690; 29907691 Phenotypes for gene: ZNF341 were set to Hyper-IgE syndrome Review for gene: ZNF341 was set to GREEN Added comment: Ten unrelated families with nonsense or frameshift variants. Sources: Literature |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 | IL6R |
Owen Siggs gene: IL6R was added gene: IL6R was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: IL6R was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL6R were set to 31235509 Phenotypes for gene: IL6R were set to Recurrent infections; Hyper-IgE; Eczema Review for gene: IL6R was set to GREEN Added comment: Two unrelated cases with homozygous variants (frameshift or missense) and compelling functional evidence. Sources: Literature |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 | IL6ST | Owen Siggs reviewed gene: IL6ST: Rating: GREEN; Mode of pathogenicity: None; Publications: 28747427, 30309848; Phenotypes: Hyper-IgE syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 | IL6ST | Owen Siggs Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 | IL6ST |
Owen Siggs gene: IL6ST was added gene: IL6ST was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: IL6ST was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL6ST were set to 31235509 Phenotypes for gene: IL6ST were set to Recurrent infections; Abnormal acute-phase responses; Elevated IgE; Eczema; Eosinophilia Review for gene: IL6ST was set to GREEN Added comment: Two unrelated cases with homozygous variants (nonsense or missense), with functional evidence of causation. Sources: Literature |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 | SNORA31 |
Owen Siggs gene: SNORA31 was added gene: SNORA31 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: SNORA31 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SNORA31 were set to 31806906 Phenotypes for gene: SNORA31 were set to Herpes simplex encephalitis Review for gene: SNORA31 was set to GREEN Added comment: Five unrelated families, four heterozygous variants in small nucleolar RNA gene. Sources: Literature |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 | PSMB10 |
Owen Siggs gene: PSMB10 was added gene: PSMB10 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: PSMB10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSMB10 were set to 31783057 Phenotypes for gene: PSMB10 were set to Proteasome-associated autoinflammatory syndrome Review for gene: PSMB10 was set to AMBER Added comment: Single case, homozygous missense variant, good functional experimental support. Sources: Literature |
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| Multi-organ autoimmune diabetes v1.7 | STAT3 | Owen Siggs reviewed gene: STAT3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25038750, 25359994; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 | SLC39A7 |
Owen Siggs gene: SLC39A7 was added gene: SLC39A7 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: SLC39A7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC39A7 were set to 30718914 Phenotypes for gene: SLC39A7 were set to Agammaglobulinemia; B cell deficiency Review for gene: SLC39A7 was set to GREEN Added comment: Six individuals from five families with biallelic missense +/- nonsense variants, phenocopied by mouse models. Sources: Literature |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 | RC3H1 |
Owen Siggs gene: RC3H1 was added gene: RC3H1 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: RC3H1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RC3H1 were set to PMID: 31636267 Phenotypes for gene: RC3H1 were set to Hemophagocytic lymphohistiocytosis Penetrance for gene: RC3H1 were set to unknown Added comment: Single case, homozygous nonsense in consanguineous kindred, clinical phenotype resembling HLH (PMID: 31636267). Convincing functional evidence of causation with phenotypic similarities to mouse model. Promote to Green List once second unrelated case identified. Sources: Literature |
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| Structural eye disease v1.0 | MYRF | Owen Siggs reviewed gene: MYRF: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31048900, 31172260, 31266062, 31700225; Phenotypes: Nanophthalmos, High hyperopia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.21 | MYRF |
Owen Siggs changed review comment from: Heterozygous variants in same gene also associated with congenital heart defects (hypoplastic left heart syndrome, scimitar syndrome, septal defects, valvular anomalies), genitourinary anomalies (ambiguous genitalia, hypospadias, cryptorchidism), congenital diaphragmatic hernia, and pulmonary hypoplasia (see 31069960). Sources: Literature; to: Entry in OMIM (600165) for locus, subsequently ascribed to variants in MYRF in this same family and at least 7 others (PMID: 31048900, 31172260, 31700225, 31266062). Heterozygous variants in same gene also associated with congenital heart defects (hypoplastic left heart syndrome, scimitar syndrome, septal defects, valvular anomalies), genitourinary anomalies (ambiguous genitalia, hypospadias, cryptorchidism), congenital diaphragmatic hernia, and pulmonary hypoplasia (see 31069960). Sources: Literature |
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| Glaucoma (developmental) v1.5 | CPAMD8 |
Owen Siggs gene: CPAMD8 was added gene: CPAMD8 was added to Glaucoma (developmental). Sources: Literature Mode of inheritance for gene: CPAMD8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPAMD8 were set to DOI: 10.1016/j.ophtha.2019.12.024, PMID: 29556725 Phenotypes for gene: CPAMD8 were set to Glaucoma; anterior segment dysgenesis; retinal detachment; cataract Penetrance for gene: CPAMD8 were set to unknown Review for gene: CPAMD8 was set to GREEN Added comment: Biallelic variants associated with autosomal recessive anterior segment dysgenesis (three published pedigrees; PMID: 27839872), or anterior segment dysgenesis with glaucoma (eight published pedigrees; PMID: 29556725, DOI: 10.1016/j.ophtha.2019.12.024). Sources: Literature |
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| Anophthalmia or microphthalmia v1.21 | MYRF |
Owen Siggs gene: MYRF was added gene: MYRF was added to Anophthalmia or microphthalmia. Sources: Literature Mode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYRF were set to PMID: 31048900, 31172260, 31700225 Phenotypes for gene: MYRF were set to Nanophthalmos; high hyperopia Penetrance for gene: MYRF were set to Complete Review for gene: MYRF was set to GREEN Added comment: Heterozygous variants in same gene also associated with congenital heart defects (hypoplastic left heart syndrome, scimitar syndrome, septal defects, valvular anomalies), genitourinary anomalies (ambiguous genitalia, hypospadias, cryptorchidism), congenital diaphragmatic hernia, and pulmonary hypoplasia (see 31069960). Sources: Literature |
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| Nephrocalcinosis or nephrolithiasis v2.0 | SLC26A1 |
Zornitza Stark gene: SLC26A1 was added gene: SLC26A1 was added to Nephrocalcinosis or nephrolithiasis. Sources: Expert list Mode of inheritance for gene: SLC26A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC26A1 were set to 27210743; 27210743; 20160351 Phenotypes for gene: SLC26A1 were set to Nephrolithiasis, calcium oxalate, MIM#167030 Review for gene: SLC26A1 was set to GREEN gene: SLC26A1 was marked as current diagnostic Added comment: Three unrelated families and a mouse model. Sources: Expert list |
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| Nephrocalcinosis or nephrolithiasis v2.0 | HNF4A | Zornitza Stark reviewed gene: HNF4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 31875549, 24285859, 22802087, 30005691, 28458902; Phenotypes: Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM #616026; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.41 | WNT5A |
Zornitza Stark gene: WNT5A was added gene: WNT5A was added to CAKUT. Sources: Expert list Mode of inheritance for gene: WNT5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: WNT5A were set to Robinow syndrome, autosomal dominant 1, MIM#180700 Review for gene: WNT5A was set to GREEN gene: WNT5A was marked as current diagnostic Added comment: Renal anomalies in about a quarter. Sources: Expert list |
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| CAKUT v1.41 | VPS33B | chirag patel reviewed gene: VPS33B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.41 | ZIC3 |
Zornitza Stark gene: ZIC3 was added gene: ZIC3 was added to CAKUT. Sources: Expert list Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ZIC3 were set to VACTERL association, X-linked, MIM# 314390 Review for gene: ZIC3 was set to GREEN Added comment: Renal malformations are a feature of VACTERL. Sources: Expert list |
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| CAKUT v1.41 | TBC1D1 |
chirag patel gene: TBC1D1 was added gene: TBC1D1 was added to CAKUT. Sources: Literature Mode of inheritance for gene: TBC1D1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TBC1D1 were set to PMID: 26572137 Phenotypes for gene: TBC1D1 were set to CAKUT Review for gene: TBC1D1 was set to GREEN Added comment: 1 heterozygous de novo frameshift variant in TBC1D1 in 1 CAKUT. 3 further CAKUT cases with three novel or rare inherited heterozygous TBC1D1 missense variants predicted to be pathogenic. TBC1D1 mutations affected Ser237-phosphorylation or protein stability and thereby act as hypomorphs. Tbc1d1 showed widespread expression in the developing murine urogenital system. A mild CAKUT spectrum phenotype, including anomalies observed in patients carrying TBC1D1 mutations, was found in kidneys of some Tbc1d1 (-/-) mice. Significantly reduced Glut4 levels were detected in kidneys of Tbc1d1 (-/-) mice and the dysplastic kidney of a TBC1D1 mutation carrier versus controls. TBC1D1 and SLC2A4 encoding GLUT4 were highly expressed in human fetal kidney. These data demonstrate heterozygous deactivating TBC1D1 mutations in CAKUT patients with a similar renal and ureteral phenotype, and provide evidence that TBC1D1 mutations may contribute to CAKUT pathogenesis, possibly via a role in glucose homeostasis. Sources: Literature |
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| CAKUT v1.41 | TFAP2A |
Zornitza Stark gene: TFAP2A was added gene: TFAP2A was added to CAKUT. Sources: Expert list Mode of inheritance for gene: TFAP2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TFAP2A were set to Branchiooculofacial syndrome, MIM# 113620 Review for gene: TFAP2A was set to GREEN Added comment: CAKUT is a feature of the phenotype. Sources: Expert list |
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| CAKUT v1.41 | STRA6 |
Zornitza Stark gene: STRA6 was added gene: STRA6 was added to CAKUT. Sources: Expert list Mode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STRA6 were set to Microphthalmia, syndromic 9, MIM# 601186 Review for gene: STRA6 was set to GREEN Added comment: Renal malformations are part of the phenotype. Sources: Expert list |
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| CAKUT v1.41 | SLIT2 | Zornitza Stark reviewed gene: SLIT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26026792; Phenotypes: CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.41 | SALL4 |
chirag patel gene: SALL4 was added gene: SALL4 was added to CAKUT. Sources: Literature Mode of inheritance for gene: SALL4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SALL4 were set to PMID: 20301547 Phenotypes for gene: SALL4 were set to SALL4- related disorders Added comment: Phenotypes include: Duane-radial ray syndrome / Okihiro syndrome; Acro-renal-ocular syndrome; and SALL4-related Holt-Oram syndrome. Acro-renal-ocular syndrome is established clinically in individuals with the following: -Radial ray malformations -Renal abnormalities that can include mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, and bladder diverticula -Ocular abnormalities that can include ocular coloboma and Duane anomaly Sources: Literature |
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| CAKUT v1.41 | RRM2B | Zornitza Stark reviewed gene: RRM2B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.41 | ROR2 |
Zornitza Stark gene: ROR2 was added gene: ROR2 was added to CAKUT. Sources: Expert list Mode of inheritance for gene: ROR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ROR2 were set to Robinow syndrome, autosomal recessive, MIM# 268310 Review for gene: ROR2 was set to GREEN gene: ROR2 was marked as current diagnostic Added comment: Although genital abnormalities are a characteristic feature, renal abnormalities described in ~10% Sources: Expert list |
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| CAKUT v1.41 | RPGRIP1L | chirag patel reviewed gene: RPGRIP1L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.41 | ROBO2 | Zornitza Stark reviewed gene: ROBO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27002985, 24429398, 29194579, 31630547, 27460642; Phenotypes: CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.41 | NOTCH2 |
chirag patel gene: NOTCH2 was added gene: NOTCH2 was added to CAKUT. Sources: Literature Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NOTCH2 were set to PMID: 22105858 Phenotypes for gene: NOTCH2 were set to Alagille syndrome 2; OMIM #610205 Review for gene: NOTCH2 was set to GREEN Added comment: Renal abnormalities, both structural (small hyperechoic kidney, ureteropelvic obstruction, renal cysts) and functional (most commonly renal tubular acidosis), are found in 39% of affected individuals (73/187) [Kamath et al 2012b, Romero 2018]. Romero R. The renal sequelae of Alagille Syndrome as a Product of Altered Notch Signaling During Kidney Development. In: Kamath, BM and Loomes, KM, eds. Alagille Syndrome: Pathogenesis and Clinical Management. Cham, Switzerland: Springer Nature Switzerland AG; 2018:103-20. Sources: Literature |
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| CAKUT v1.41 | NIPBL |
Zornitza Stark gene: NIPBL was added gene: NIPBL was added to CAKUT. Sources: Expert list Mode of inheritance for gene: NIPBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NIPBL were set to 8291537 Phenotypes for gene: NIPBL were set to Cornelia de Lange syndrome 1, MIM# 122470 Review for gene: NIPBL was set to GREEN gene: NIPBL was marked as current diagnostic Added comment: Renal abnormalities, primarily vesicoureteral reflux, have been reported in 12% Sources: Expert list |
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| CAKUT v1.41 | MYOCD |
chirag patel gene: MYOCD was added gene: MYOCD was added to CAKUT. Sources: Literature Mode of inheritance for gene: MYOCD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MYOCD were set to PMID: 31513549 Phenotypes for gene: MYOCD were set to Megabladder; congenital heart disease; cardiomyopathy Review for gene: MYOCD was set to GREEN Added comment: Four unrelated families. Mono allelic disease in males (megabladder), bi-allelic disease in males and females (megabladder and congenital heart disease). Cosegregation of MYOCD variants with the phenotype in 4 unrelated families by in vitro transactivation studies in which pathogenic variants resulted in abrogated SM gene expression and by the finding of megabladder in 2 distinct mouse models with reduced Myocd activity. Sources: Literature |
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| CAKUT v1.41 | LRP4 |
Zornitza Stark gene: LRP4 was added gene: LRP4 was added to CAKUT. Sources: Expert list Mode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRP4 were set to Cenani-Lenz syndactyly syndrome, MIM# 212780 Review for gene: LRP4 was set to GREEN gene: LRP4 was marked as current diagnostic Added comment: Renal hypoplasia/dysplasia is a recognised feature of this syndrome, and is a feature of the mouse model. Sources: Expert list |
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| CAKUT v1.41 | LIFR |
chirag patel gene: LIFR was added gene: LIFR was added to CAKUT. Sources: Literature Mode of inheritance for gene: LIFR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LIFR were set to PMID: 28334964 Phenotypes for gene: LIFR were set to CAKUT Review for gene: LIFR was set to GREEN Added comment: 4 unrelated patients with CAKUT, including functional mouse models. BUT gene also causes Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome with biallelic mutations. Sources: Literature |
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| CAKUT v1.41 | KMT2D |
Zornitza Stark gene: KMT2D was added gene: KMT2D was added to CAKUT. Sources: Expert list Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KMT2D were set to 23535010 Phenotypes for gene: KMT2D were set to Kabuki syndrome 1, MIM# 147920 Review for gene: KMT2D was set to GREEN gene: KMT2D was marked as current diagnostic Added comment: Renal malformations are part of the phenotype. Sources: Expert list |
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| CAKUT v1.41 | KDM6A |
Zornitza Stark gene: KDM6A was added gene: KDM6A was added to CAKUT. Sources: Expert list Mode of inheritance for gene: KDM6A was set to Other Publications for gene: KDM6A were set to 23535010 Phenotypes for gene: KDM6A were set to Kabuki syndrome 2, MIM# 300867 Review for gene: KDM6A was set to GREEN Added comment: Renal malformations are a recognised feature of this syndrome. Sources: Expert list |
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| CAKUT v1.41 | JAG1 |
chirag patel gene: JAG1 was added gene: JAG1 was added to CAKUT. Sources: Literature Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: JAG1 were set to PMID: 22105858 Phenotypes for gene: JAG1 were set to Alagille syndrome 1; OMIM #118450 Review for gene: JAG1 was set to GREEN Added comment: Renal abnormalities, both structural (small hyperechoic kidney, ureteropelvic obstruction, renal cysts) and functional (most commonly renal tubular acidosis), are found in 39% of affected individuals (73/187) [Kamath et al 2012b, Romero 2018]. Romero R. The renal sequelae of Alagille Syndrome as a Product of Altered Notch Signaling During Kidney Development. In: Kamath, BM and Loomes, KM, eds. Alagille Syndrome: Pathogenesis and Clinical Management. Cham, Switzerland: Springer Nature Switzerland AG; 2018:103-20. Sources: Literature |
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| CAKUT v1.41 | HOXA13 |
Zornitza Stark gene: HOXA13 was added gene: HOXA13 was added to CAKUT. Sources: Expert list Mode of inheritance for gene: HOXA13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HOXA13 were set to Hand-foot-uterus syndrome, MIM# 140000 Review for gene: HOXA13 was set to GREEN gene: HOXA13 was marked as current diagnostic Added comment: CAKUT is a feature of this condition, variable severity. Sources: Expert list |
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| CAKUT v1.41 | GREB1L |
Zornitza Stark gene: GREB1L was added gene: GREB1L was added to CAKUT. Sources: Expert list Mode of inheritance for gene: GREB1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GREB1L were set to 29100091 Phenotypes for gene: GREB1L were set to Renal hypodysplasia/aplasia 3, MIM# 617805 Review for gene: GREB1L was set to GREEN gene: GREB1L was marked as current diagnostic Added comment: At least 16 families described, and mouse model supports gene-disease association. Sources: Expert list |
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| CAKUT v1.41 | GPC3 |
Zornitza Stark gene: GPC3 was added gene: GPC3 was added to CAKUT. Sources: Expert list Mode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GPC3 were set to Simpson-Golabi-Behmel syndrome, type 1 312870 Review for gene: GPC3 was set to GREEN gene: GPC3 was marked as current diagnostic Added comment: Nephromegaly, multicystic kidneys, hydronephrosis, hydroureter, and duplicated ureters are described features of this syndrome. Sources: Expert list |
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| CAKUT v1.41 | FGF20 |
Zornitza Stark gene: FGF20 was added gene: FGF20 was added to CAKUT. Sources: Expert list Mode of inheritance for gene: FGF20 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FGF20 were set to 22698282 Phenotypes for gene: FGF20 were set to Renal hypodysplasia/aplasia 2, MIM#615721 Review for gene: FGF20 was set to AMBER Added comment: Multiple affected fetuses in a consanguineous family; functional data. Sources: Expert list |
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| CAKUT v1.41 | FAM58A |
Zornitza Stark gene: FAM58A was added gene: FAM58A was added to CAKUT. Sources: Expert list Mode of inheritance for gene: FAM58A was set to Other Publications for gene: FAM58A were set to 28225384; 18297069 Phenotypes for gene: FAM58A were set to STAR syndrome, MIM# 300707 Review for gene: FAM58A was set to GREEN gene: FAM58A was marked as current diagnostic Added comment: XL-dominant disorder, multiple affected families reported, renal malformation are part of the phenotype. Note deletions and sequence variants reported. Sources: Expert list |
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| CAKUT v1.41 | EXOC3L2 |
chirag patel gene: EXOC3L2 was added gene: EXOC3L2 was added to CAKUT. Sources: Literature Mode of inheritance for gene: EXOC3L2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOC3L2 were set to PMID: 30327448, 28749478, 27894351 Phenotypes for gene: EXOC3L2 were set to Dandy-Walker malformation; renal dysplasia; bone marrow failure Review for gene: EXOC3L2 was set to GREEN Added comment: Four individuals from two unrelated families with brain, kidney and bone marrow abnormalities; another described as part of fetal autopsy series, and another in a ciliopathy cohort. Sources: Literature |
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| CAKUT v1.41 | DHCR7 | Zornitza Stark edited their review of gene: DHCR7: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.41 | DHCR7 |
Zornitza Stark gene: DHCR7 was added gene: DHCR7 was added to CAKUT. Sources: Expert list Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHCR7 were set to 3812577; 10069707; 23059950; 9678700 Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome, MIM# 270400 gene: DHCR7 was marked as current diagnostic Added comment: Approximately 25% of affected individuals have renal anomalies, most commonly renal hypoplasia or agenesis, renal cortical cysts, hydronephrosis, and structural anomalies of the collecting system [Curry et al 1987, Ryan et al 1998, Kratz & Kelley 1999, Nowaczyk et al 2001]. Sources: Expert list |
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| CAKUT v1.41 | CTU2 |
Zornitza Stark gene: CTU2 was added gene: CTU2 was added to CAKUT. Sources: Expert list Mode of inheritance for gene: CTU2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTU2 were set to 27480277; 26633546; 31301155 Phenotypes for gene: CTU2 were set to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142 Review for gene: CTU2 was set to GREEN gene: CTU2 was marked as current diagnostic Added comment: Multiple families reported though some share the same founder variant. Sources: Expert list |
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| CAKUT v1.41 | CHD1L | Zornitza Stark reviewed gene: CHD1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.41 | CEP55 |
Zornitza Stark gene: CEP55 was added gene: CEP55 was added to CAKUT. Sources: Expert list Mode of inheritance for gene: CEP55 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP55 were set to 30622327 Phenotypes for gene: CEP55 were set to Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM# 236500 Review for gene: CEP55 was set to GREEN gene: CEP55 was marked as current diagnostic Added comment: Three families and a zebrafish model support gene-disease association. Sources: Expert list |
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| CAKUT v1.41 | CENPF |
Zornitza Stark gene: CENPF was added gene: CENPF was added to CAKUT. Sources: Expert list Mode of inheritance for gene: CENPF was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CENPF were set to Stromme syndrome, MIM#243605 Review for gene: CENPF was set to GREEN Added comment: Renal hypodysplasia and hydronephrosis are a feature of this syndrome. Sources: Expert list |
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| CAKUT v1.41 | BMP7 |
Zornitza Stark gene: BMP7 was added gene: BMP7 was added to CAKUT. Sources: Expert list Mode of inheritance for gene: BMP7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BMP7 were set to 24429398; 7590254 Phenotypes for gene: BMP7 were set to CAKUT Review for gene: BMP7 was set to RED Added comment: Single patient reported in a large series; mouse model supports pathogenicity. Sources: Expert list |
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| CAKUT v1.41 | BMP4 | Zornitza Stark reviewed gene: BMP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 30568244, 24131739, 23641053, 19685083; Phenotypes: CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.0 | SCUBE3 | Eleanor Williams changed review comment from: A variant in this gene has been found in a 100K proband as potentially being the cause of a skeletal dysplasia.; to: A variant in this gene has been found in a 100K proband as potentially being the cause of a skeletal dysplasia. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.0 | SCUBE3 | Eleanor Williams commented on gene: SCUBE3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.3 | PDLIM3 | Eleanor Williams Added comment: Comment on publications: Adding PMID: 25163546 Haas et al 2015 Atlas of the clinical genetics of human dilated cardiomyopathy. Reports a frameshift variant in PDLIM3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.3 | PDLIM3 | Eleanor Williams Publications for gene: PDLIM3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | KCNQ4 | Ellen McDonagh Tag watchlist was removed from gene: KCNQ4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | MITF | Ellen McDonagh Tag watchlist was removed from gene: MITF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.413 | DPM3 | Louise Daugherty Tag watchlist was removed from gene: DPM3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.413 | DPM3 | Louise Daugherty commented on gene: DPM3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.413 | ATAD3A | Louise Daugherty commented on gene: ATAD3A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.413 | ATAD3A | Louise Daugherty Tag watchlist was removed from gene: ATAD3A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.112 | SMAD2 | Louise Daugherty Tag watchlist was removed from gene: SMAD2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.112 | SMAD2 | Louise Daugherty commented on gene: SMAD2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.6 | TUB | Louise Daugherty commented on gene: TUB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.6 | TUB | Louise Daugherty Tag watchlist was removed from gene: TUB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.6 | ABCA4 | Louise Daugherty Tag watchlist was removed from gene: ABCA4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Radial dysplasia v1.7 | ZIC3 | Louise Daugherty commented on gene: ZIC3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Radial dysplasia v1.7 | ZIC3 | Louise Daugherty Tag watchlist was removed from gene: ZIC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v2.0 | PTPN14 | Louise Daugherty commented on gene: PTPN14 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 | CDCA7 | Louise Daugherty Tag watchlist was removed from gene: CDCA7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 | CDCA7 | Louise Daugherty commented on gene: CDCA7: As a result of watchlist tag audit the watchlist tag was removed from CDCA7- this is now a green gene with sufficient evidence/review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.3 | TIMM50 | Louise Daugherty Tag watchlist was removed from gene: TIMM50. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.3 | TIMM50 | Louise Daugherty commented on gene: TIMM50 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.3 | MTFMT | Louise Daugherty Tag watchlist was removed from gene: MTFMT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.3 | MTFMT | Louise Daugherty commented on gene: MTFMT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.3 | LYRM7 | Louise Daugherty Tag watchlist was removed from gene: LYRM7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.3 | LYRM7 | Louise Daugherty commented on gene: LYRM7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.3 | FDX2 | Louise Daugherty Tag watchlist was removed from gene: FDX2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.3 | FDX2 | Louise Daugherty commented on gene: FDX2: As a result of watchlist tag audit the watchlist tag was removed from FDX2- this is now a green gene with sufficient evidence/review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.3 | COQ9 | Louise Daugherty commented on gene: COQ9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.3 | ATPAF2 | Louise Daugherty commented on gene: ATPAF2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | ZSWIM6 | Louise Daugherty commented on gene: ZSWIM6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | ZSWIM6 | Louise Daugherty Tag watchlist was removed from gene: ZSWIM6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | UFM1 | Louise Daugherty Tag watchlist was removed from gene: UFM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.413 | FMO3 | Rebecca Foulger commented on gene: FMO3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.413 | FMO3 | Rebecca Foulger Tag treatable tag was added to gene: FMO3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | TRMT1 | Louise Daugherty Tag watchlist was removed from gene: TRMT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | TRMT1 | Louise Daugherty commented on gene: TRMT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.413 | FMO3 | Rebecca Foulger Phenotypes for gene: FMO3 were changed from Trimethylaminuria (Disorders and variants of enzymes that oxidise xenobiotics other than cytochrome P450) to Trimethylaminuria, 602079 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | TRAF7 | Louise Daugherty Tag watchlist was removed from gene: TRAF7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.412 | FMO3 | Rebecca Foulger Publications for gene: FMO3 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | TRAF7 | Louise Daugherty commented on gene: TRAF7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | TCF20 | Louise Daugherty edited their review of gene: TCF20: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | TCF20 | Louise Daugherty Tag watchlist was removed from gene: TCF20. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | TCF20 | Louise Daugherty commented on gene: TCF20: As a result of watchlist tag audit the watchlist tag was removed from TCF20 this is now a green gene with sufficient evidence/review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | SYNJ1 | Louise Daugherty Tag watchlist was removed from gene: SYNJ1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | SYNJ1 | Louise Daugherty commented on gene: SYNJ1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | SLC6A9 | Louise Daugherty edited their review of gene: SLC6A9: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | SLC6A9 | Louise Daugherty Tag watchlist was removed from gene: SLC6A9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | SLC6A9 | Louise Daugherty commented on gene: SLC6A9: As a result of watchlist tag audit the watchlist tag was removed from SLC6A9- this is now a green gene with sufficient evidence/review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | SETD1B | Louise Daugherty Tag watchlist was removed from gene: SETD1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | SETD1B | Louise Daugherty commented on gene: SETD1B: As a result of watchlist tag audit the watchlist tag was removed from SETD1B- this is now a green gene with sufficient evidence/review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | RLIM | Louise Daugherty commented on gene: RLIM: As a result of watchlist tag audit the watchlist tag was removed from RLIM- this is now a green gene with sufficient evidence/review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | RLIM | Louise Daugherty Tag watchlist was removed from gene: RLIM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | MSL3 | Louise Daugherty commented on gene: MSL3: As a result of watchlist tag audit the watchlist tag was removed from MSL3- this is now a green gene with sufficient evidence/review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | MSL3 | Louise Daugherty Tag watchlist was removed from gene: MSL3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | MSL3 | Louise Daugherty commented on gene: MSL3: As a result of watchlist tag audit the watchlist tag was removed from MSL3- this is now a green gene with sufficient evidence/review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | MED25 | Louise Daugherty Tag watchlist was removed from gene: MED25. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | MED25 | Louise Daugherty commented on gene: MED25: As a result of watchlist tag audit the watchlist tag was removed from MED25- this is now a green gene with sufficient evidence/review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | KDM1A | Louise Daugherty Tag watchlist was removed from gene: KDM1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | KDM1A | Louise Daugherty commented on gene: KDM1A: As a result of watchlist tag audit the watchlist tag was removed from KDM1A- this is now a green gene with sufficient evidence/review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | GRIA2 | Louise Daugherty Tag watchlist was removed from gene: GRIA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | GRIA2 | Louise Daugherty commented on gene: GRIA2: As a result of watchlist tag audit the watchlist tag was removed from GRIA2- this is now a green gene with sufficient evidence/review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | DLG4 | Louise Daugherty Tag watchlist was removed from gene: DLG4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | DLG4 | Louise Daugherty commented on gene: DLG4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CTDP1 | Louise Daugherty Tag watchlist was removed from gene: CTDP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CTDP1 | Louise Daugherty commented on gene: CTDP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CSNK2A1 | Louise Daugherty Tag watchlist was removed from gene: CSNK2A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CSNK2A1 | Louise Daugherty commented on gene: CSNK2A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CLCN4 | Louise Daugherty Tag watchlist was removed from gene: CLCN4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | CLCN4 | Louise Daugherty commented on gene: CLCN4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | ALG11 | Louise Daugherty Tag watchlist was removed from gene: ALG11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | ALG11 | Louise Daugherty commented on gene: ALG11 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v2.1 | JPH2 | Louise Daugherty Tag watchlist was removed from gene: JPH2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v2.1 | JPH2 | Louise Daugherty commented on gene: JPH2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v2.1 | FLNC | Louise Daugherty Tag watchlist was removed from gene: FLNC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v2.1 | FLNC | Louise Daugherty commented on gene: FLNC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.213 | KIF1A | Louise Daugherty Tag watchlist was removed from gene: KIF1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.213 | KIF1A | Louise Daugherty commented on gene: KIF1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, childhood onset v2.7 | KIF1A | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, childhood onset v2.7 | KIF1A | Louise Daugherty commented on gene: KIF1A: As a result of watchlist tag audit the watchlist tag was removed from KIF1A- this is now a green gene with sufficient evidence/review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.368 | SYT2 | Louise Daugherty commented on gene: SYT2: As a result of watchlist tag audit the watchlist tag was kept as still relevant to this gene, it was made green on this panel as it represents a broad phenotype | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.368 | SBF1 | Louise Daugherty Tag watchlist was removed from gene: SBF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.368 | SBF1 | Louise Daugherty commented on gene: SBF1: As a result of watchlist tag audit the watchlist tag was removed from SBF1- this is now a green gene with sufficient evidence/review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | NPRL2 | Louise Daugherty Tag watchlist was removed from gene: NPRL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | NPRL2 | Louise Daugherty commented on gene: NPRL2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | KIAA1109 | Louise Daugherty Tag watchlist was removed from gene: KIAA1109. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | KIAA1109 | Louise Daugherty commented on gene: KIAA1109 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | KCNQ5 | Louise Daugherty Tag watchlist was removed from gene: KCNQ5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | KCNQ5 | Louise Daugherty commented on gene: KCNQ5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | HNRNPR | Louise Daugherty Tag watchlist was removed from gene: HNRNPR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | HNRNPR | Louise Daugherty commented on gene: HNRNPR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | GOT2 | Louise Daugherty commented on gene: GOT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | GOT2 | Louise Daugherty Tag watchlist was removed from gene: GOT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | EIF2B3 | Louise Daugherty Tag watchlist was removed from gene: EIF2B3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | EIF2B3 | Louise Daugherty commented on gene: EIF2B3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | EIF2B1 | Louise Daugherty Tag watchlist was removed from gene: EIF2B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | EIF2B1 | Louise Daugherty commented on gene: EIF2B1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | CSNK2B | Louise Daugherty Tag watchlist was removed from gene: CSNK2B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | CSNK2B | Louise Daugherty commented on gene: CSNK2B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | CNPY3 | Louise Daugherty Tag watchlist was removed from gene: CNPY3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | CNPY3 | Louise Daugherty commented on gene: CNPY3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | ARV1 | Louise Daugherty Tag watchlist was removed from gene: ARV1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | ARV1 | Louise Daugherty commented on gene: ARV1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | AFF3 |
Louise Daugherty changed review comment from: As a result of watchlist tag audit the watchlist tag was removed from AFF3- this is now a green gene. Preprint information is now available Voisin et al, 2019; to: As a result of watchlist tag audit the watchlist tag was removed from AFF3- this is now a green gene. Preprint information is now available Voisin et al, 2019 https://www.biorxiv.org/content/10.1101/693937v1 |
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| Early onset or syndromic epilepsy v2.0 | AFF3 | Louise Daugherty Tag watchlist was removed from gene: AFF3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | AFF3 | Louise Daugherty commented on gene: AFF3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.0 | MYPN | Louise Daugherty Tag watchlist was removed from gene: MYPN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.0 | MYPN | Louise Daugherty commented on gene: MYPN: As a result of watchlist tag audit the watchlist tag was removed from MYPN- this is now a green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.0 | CCDC78 | Louise Daugherty Tag watchlist was removed from gene: CCDC78. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.0 | CCDC78 | Louise Daugherty commented on gene: CCDC78: As a result of watchlist tag audit the watchlist tag was removed from CCDC78- this is now a green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | VAMP1 | Louise Daugherty Tag watchlist was removed from gene: VAMP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | VAMP1 | Louise Daugherty commented on gene: VAMP1: As a result of watchlist tag audit the watchlist tag was removed from VAMP1- this is now a green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myaesthenic syndrome v2.0 | VAMP1 | Louise Daugherty Tag watchlist was removed from gene: VAMP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myaesthenic syndrome v2.0 | VAMP1 | Louise Daugherty commented on gene: VAMP1: As a result of watchlist tag audit the watchlist tag was removed from VAMP1- this is now a green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital adrenal hypoplasia v2.0 | SGPL1 | Louise Daugherty Tag watchlist was removed from gene: SGPL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital adrenal hypoplasia v2.0 | SGPL1 | Louise Daugherty commented on gene: SGPL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar hypoplasia v1.39 | SMPD4 | Louise Daugherty Tag watchlist was removed from gene: SMPD4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar hypoplasia v1.39 | SMPD4 | Louise Daugherty commented on gene: SMPD4: As a result of watchlist tag audit the watchlist tag was removed from SMPD4- this is now a green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v2.0 | PEX6 | Louise Daugherty Tag watchlist was removed from gene: PEX6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v2.0 | PEX6 | Louise Daugherty commented on gene: PEX6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.112 | ADAMTSL4 | Ivone Leong Phenotypes for gene: ADAMTSL4 were changed from to Ectopia lentis et pupillae; Ectopia lentis, isolated, autosomal recessive | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.111 | ADAMTSL4 | Ivone Leong Classified gene: ADAMTSL4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.111 | ADAMTSL4 | Ivone Leong Added comment: Comment on list classification: Promoted from Red to Green based on expert review from Ellen Thomas (Genomics England Curator). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.111 | ADAMTSL4 | Ivone Leong Gene: adamtsl4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.110 | FLCN | Ivone Leong commented on gene: FLCN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.110 | COL1A2 | Ivone Leong commented on gene: COL1A2: After consulting with the Genomics England Clinical Team, it was decided that this gene should remain Green on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.110 | COL1A1 | Ivone Leong commented on gene: COL1A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v2.1 | TBL1X | Ivone Leong Phenotypes for gene: TBL1X were changed from isolated mild-moderate central hypothyroidism to isolated mild-moderate central hypothyroidism; Hypothyroidism, congenital, nongoitrous, 8, 301033 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | SUPT16H |
Konstantinos Varvagiannis gene: SUPT16H was added gene: SUPT16H was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: SUPT16H was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SUPT16H were set to http://dx.doi.org/10.1136/jmedgenet-2019-106193 Phenotypes for gene: SUPT16H were set to Global developmental delay; Intellectual disability; Abnormality of the corpus callosum Penetrance for gene: SUPT16H were set to Complete Review for gene: SUPT16H was set to AMBER Added comment: Bina et al (2020 - http://dx.doi.org/10.1136/jmedgenet-2019-106193) report on 4 unrelated individuals with heterozygous SNVs affecting SUPT16H as well as 1 further with microdeletion spanning this gene. The phenotype consisted of DD with subsequent ID in a subset of them (ages of the cohort: 2y-14y), autistic features in few, abnormalities of the corpus callosum (for 3 with available MRI images), variable gastrointestinal problems in some, and possibly minor dysmorphic features. SUPT16H encodes a subunit of the FACT (facilitates chromatin transcription) complex, a chromatin-specific factor required for transcription elongation as well as for DNA replication and repair (OMIM citing Belotserkovskaya et al. 2003 - PMID: 12934006). The 2 subunits of the complex [Spt16 (encoded by SUPT16H) and SSRP1] are essential for histone regulation. As the authors note, Spt16 interacts with the histone dimer H2A-H2B during transcription to allow RNA polymerase access to previously coiled DNA [cited PMIDs : 9489704, 10421373 / A recent study by Liu et al 2019 (PMID: 31775157) appears highly relevant]. SUPT16H has a Z-score of 5.1 in gnomAD and a pLI of 1 (%HI of 22.56 in Decipher). SNVs : 4 de novo missense SNVs were identified following exome sequencing (NM_007192.3:c.484A>G or I162V / L432P / N571S / R734W), all absent from gnomAD and mostly predicted to be deleterious (I162V predicted benign, tolerated, disease-causing by PolyPhen2, SIFT, MutationTaster respectively and had a CADD score of 13.61). Prior work-up for these individuals (incl. CMA in some / MS-MLPA for Angelman s. in 1 / metabolic investigations) had (probably) not revealed an apparent cause, with small CNVs inherited from healthy parents (a 4q13.3 dup / 20q13.2 del - coordinates not provided). There were no studies performed for the identified variants. CNVs : A 5th individual reported by Bina et al was found to harbor a 2.05 Mb 14q11.2 deletion spanning SUPT16H. The specific deletion also spanned CHD8 while the same individual harbored also a 30.17 Mb duplication of 18p11.32q12.1. CNVs spanning SUPT16H reported to date, also span the (very) proximal CHD8. [Genomic coordinates (GRCh38) for SUPT16H and CHD8 as provided by OMIM : 14:21,351,471-21,384,018 / 14:21,385,198-21,456,122]. Haploinsufficiency of CHD8 is associated with a distinctive syndrome with overgrowth and ID (Douzgou et al 2019 - PMID: 31001818). The phenotype of SUPT16H-CHD8 duplications is discussed in other studies/reviews. [Smol et al 2020 - PMID: 31823155 / Smyk et al 2016 - PMID: 26834018]. Animal models were not commented on by Bina et al (possibly not available for mouse : http://www.informatics.jax.org/marker/MGI:1890948 / https://www.mousephenotype.org/data/genes/MGI:1890948 ). Sources: Literature |
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| Early onset or syndromic epilepsy v2.0 | TET3 |
Konstantinos Varvagiannis gene: TET3 was added gene: TET3 was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: TET3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TET3 were set to https://doi.org/10.1016/j.ajhg.2019.12.007 Phenotypes for gene: TET3 were set to Global developmental delay; Intellectual disability; Macrocephaly; Growth abnormality; Seizures; Autistic behavior; Abnormality of movement; Abnormality of the face Penetrance for gene: TET3 were set to Complete Review for gene: TET3 was set to AMBER Added comment: Beck et al (2020 - DOI: https://doi.org/10.1016/j.ajhg.2019.12.007) report on individuals with monoallelic de novo or biallelic pathogenic TET3 variants. For both inheritance modes (AR/AD) DD/ID were among the observed features (mild-severe - individuals from families 2, 4 and 6 for whom presence of ID was not commented, relevance to the current panel is suggested from the developmental milestones in the supplement. One individual presented DD without ID). Other features included hypotonia (in 8), ASD/autistic features (in 5), seizures (2 unrelated subjects for each inheritance mode). Postnatal growth abnormalities were observed in many, in most cases involving head size (with/without abnormal stature) and few presented abnormal prenatal growth. Variable movement disorders were observed in some. Some facial features appeared to be more common (eg. long face, tall forehead, etc). Most were referred for their DD. Extensive prior genetic investigations had (mostly) come out normal (with possible contribution of a 16p11.2 dup in an individual with monoallelic variant or a 16q22 dup in another with biallelic TET3 variants). Monoallelic / biallelic variants in all subjects were identified following exome sequencing. TET3 encodes a methylcytosine dioxygenase (the TET family consisting of 3 enzymes, TET1, TET2, TET3). These enzymes are involved in DNA demethylation through a series of reactions beginning with the conversion of 5-methyl cytosine [5mc] to 5-hydromethylcytosine [5hmC]. 5 individuals from 3 families (1/3 consanguineous) harbored biallelic missense variants. 5 different missense variants were observed. Heterozygous parents appeared to be mildly affected (eg. having learning difficulties, etc). 6 individuals from 5 families harbored monoallelic variants [3 truncating (of which 2 localizing in the last exon), 2 missense SNVs]. In one family the variant was inherited from a similarly affected parent. In all other cases the variant had occured de novo. No additional TET3 variants were identified, with the limitations of WES. All missense mutations, whether observed in individuals with biallelic or monoallelic variants, were located within the catalytic domain or - for a single variant (NM_001287491.1:c.2254C>T / p.Arg752Cys) - adjacent to it. Functional studies were carried out only for (all) missense variants observed in individuals with biallelic variants. Conversion of 5mC to 5hmC is the first step in DNA demethylation. In HEK293 cells overexpressing either wt or variants, production of 5hmc was measured. 4/5 missense variants evaluated demonstrated a defect in converting 5mC to 5hmC, Arg752Cys being an exception (as also predicted by its localization). DD/ID and abnormal growth are also features of disorders of the epigenetic machinery (DNA methylation machinery, histone machinery, chromatin remodelers, other chromatin-associated proteins). Similarly to TET3, both monoallelic and biallelic variants in KDM5B, encoding for another component of the epigenetic machinery, have been identified in individuals with ID. Mouse models discussed by the authors [several Refs provided though not here reviewed] : The gene has been shown to be highly expressed in oocytes, zygotes and neurons and to play a role in demethylation of the paternal genome after fertilization. (From the MGI: 'mice inheriting a null allele from a germ cell conditional null mother display impaired reprogramming of the paternal genome resulting in reduced embryo viability'). Beck et al also note that Tet3 inhibition or depletion in differentiated neurons can impact synaptic function [PMIDs cited: 25915473, 24757058, 26711116]. Sources: Literature |
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| Intellectual disability v3.0 | TET3 |
Konstantinos Varvagiannis gene: TET3 was added gene: TET3 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: TET3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TET3 were set to https://doi.org/10.1016/j.ajhg.2019.12.007 Phenotypes for gene: TET3 were set to Global developmental delay; Intellectual disability; Macrocephaly; Growth abnormality; Seizures; Autistic behavior; Abnormality of movement; Abnormality of the face Penetrance for gene: TET3 were set to Complete Review for gene: TET3 was set to GREEN Added comment: Beck et al (2020 - DOI: https://doi.org/10.1016/j.ajhg.2019.12.007) report on individuals with monoallelic de novo or biallelic pathogenic TET3 variants. For both inheritance modes (AR/AD) DD/ID were among the observed features (mild-severe - individuals from families 2, 4 and 6 for whom presence of ID was not commented, relevance to the current panel is suggested from the developmental milestones in the supplement. One individual presented DD without ID). Other features included hypotonia (in 8), ASD/autistic features (in 5), seizures (2 unrelated subjects for each inheritance mode). Postnatal growth abnormalities were observed in many, in most cases involving head size (with/without abnormal stature) and few presented abnormal prenatal growth. Variable movement disorders were observed in some. Some facial features appeared to be more common (eg. long face, tall forehead, etc). Most were referred for their DD. Extensive prior genetic investigations had (mostly) come out normal (with possible contribution of a 16p11.2 dup in an individual with monoallelic variant or a 16q22 dup in another with biallelic TET3 variants). Monoallelic / biallelic variants in all subjects were identified following exome sequencing. TET3 encodes a methylcytosine dioxygenase (the TET family consisting of 3 enzymes, TET1, TET2, TET3). These enzymes are involved in DNA demethylation through a series of reactions beginning with the conversion of 5-methyl cytosine [5mc] to 5-hydromethylcytosine [5hmC]. 5 individuals from 3 families (1/3 consanguineous) harbored biallelic missense variants. 5 different missense variants were observed. Heterozygous parents appeared to be mildly affected (eg. having learning difficulties, etc). 6 individuals from 5 families harbored monoallelic variants [3 truncating (of which 2 localizing in the last exon), 2 missense SNVs]. In one family the variant was inherited from a similarly affected parent. In all other cases the variant had occured de novo. No additional TET3 variants were identified, with the limitations of WES. All missense mutations, whether observed in individuals with biallelic or monoallelic variants, were located within the catalytic domain or - for a single variant (NM_001287491.1:c.2254C>T / p.Arg752Cys) - adjacent to it. Functional studies were carried out only for (all) missense variants observed in individuals with biallelic variants. Conversion of 5mC to 5hmC is the first step in DNA demethylation. In HEK293 cells overexpressing either wt or variants, production of 5hmc was measured. 4/5 missense variants evaluated demonstrated a defect in converting 5mC to 5hmC, Arg752Cys being an exception (as also predicted by its localization). DD/ID and abnormal growth are also features of disorders of the epigenetic machinery (DNA methylation machinery, histone machinery, chromatin remodelers, other chromatin-associated proteins). Similarly to TET3, both monoallelic and biallelic variants in KDM5B, encoding for another component of the epigenetic machinery, have been identified in individuals with ID. Mouse models discussed by the authors [several Refs provided though not here reviewed] : The gene has been shown to be highly expressed in oocytes, zygotes and neurons and to play a role in demethylation of the paternal genome after fertilization. (From the MGI: 'mice inheriting a null allele from a germ cell conditional null mother display impaired reprogramming of the paternal genome resulting in reduced embryo viability'). Beck et al also note that Tet3 inhibition or depletion in differentiated neurons can impact synaptic function [PMIDs cited: 25915473, 24757058, 26711116]. Sources: Literature |
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| Intellectual disability v3.0 | PIGP |
Konstantinos Varvagiannis changed review comment from: Please consider upgrading this gene to Green. A recent study Vetro et al. (2020 - https://doi.org/10.1212/NXG.0000000000000387) identified 4 additional affected individuals with severe EIEE, belonging to a large inbred family. Following extensive genetic investigations (all of which were non-diagnostic) these subjects were found to harbor in homozygosity the frameshift variant also reported in the 2 previous studies (NM_153681.2:c.456delA / p.Glu153AsnfsTer34 or NM_153682.2:c.384delA / p.Glu129AsnfsTer34). Reduced expression of the GPI-anchor protein CD16 was demonstrated in granulocytes of affected individuals.; to: Please consider upgrading this gene to Green. In a recent study, Vetro et al. (2020 - https://doi.org/10.1212/NXG.0000000000000387) identified 4 additional affected individuals with severe EIEE, belonging to a large inbred family. Following extensive genetic investigations (all of which were non-diagnostic) these subjects were found to harbor in homozygosity the frameshift variant also reported in the 2 previous studies (NM_153681.2:c.456delA / p.Glu153AsnfsTer34 or NM_153682.2:c.384delA / p.Glu129AsnfsTer34). Reduced expression of the GPI-anchor protein CD16 was demonstrated in granulocytes of affected individuals. |
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| Early onset or syndromic epilepsy v2.0 | PIGP |
Konstantinos Varvagiannis edited their review of gene: PIGP: Added comment: Please consider upgrading this gene to Green. In a recent study, Vetro et al. (2020 - https://doi.org/10.1212/NXG.0000000000000387) identified 4 additional affected individuals with severe EIEE, belonging to a large inbred family. Following extensive genetic investigations (all of which were non-diagnostic) these subjects were found to harbor in homozygosity the frameshift variant also reported in the 2 previous studies (NM_153681.2:c.456delA / p.Glu153AsnfsTer34 or NM_153682.2:c.384delA / p.Glu129AsnfsTer34). Reduced expression of the GPI-anchor protein CD16 was demonstrated in granulocytes of affected individuals.; Changed publications: 28334793, 31139695, https://doi.org/10.1212/NXG.0000000000000387 |
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| Intellectual disability v3.0 | PIGP |
Konstantinos Varvagiannis edited their review of gene: PIGP: Added comment: Please consider upgrading this gene to Green. A recent study Vetro et al. (2020 - https://doi.org/10.1212/NXG.0000000000000387) identified 4 additional affected individuals with severe EIEE, belonging to a large inbred family. Following extensive genetic investigations (all of which were non-diagnostic) these subjects were found to harbor in homozygosity the frameshift variant also reported in the 2 previous studies (NM_153681.2:c.456delA / p.Glu153AsnfsTer34 or NM_153682.2:c.384delA / p.Glu129AsnfsTer34). Reduced expression of the GPI-anchor protein CD16 was demonstrated in granulocytes of affected individuals.; Changed publications: 28334793, 31139695, https://doi.org/10.1212/NXG.0000000000000387 |
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| Intellectual disability v3.0 | ZNF292 |
Konstantinos Varvagiannis commented on gene: ZNF292: Correction to the phrase "Manual review of some relevant LoF variants in gnomAD suggested that they represent false positive calls": Irrespective of the variants identified in their cohort, Mirzaa et al. reviewed many pLoF variants which are listed in gnomAD. The authors suggested that some of these variants may not represent true LoF variants. Eg. NM_015021.3:c.2690C>A ( https://gnomad.broadinstitute.org/variant/6-87966037-C-A ) which appears to be a stopgain variant (Ser[TCA]>Ter[TAA]) is probably not a true LoF variant. It always occurred in cis (/the same reads) with NM_015021.3:c.2689T>C (Ser[TCA] to Pro[CCA]). This is visible in the IGV graph of gnomAD (url above). Thus, gnomAD lists 2 single-nucleotide variants affecting the same codon, one next to the other. However, as the 2 SNVs always occurred in cis, this represents a single missense multi-nucleotide variant (Ser[TCA]>Gln[CAA]) [ NM_015021.3(ZNF292_v001):c.2689_2690delinsCA ]. Similar observations were made for other variants seen in gnomAD. |
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| Intellectual disability v3.0 | NUS1 |
Konstantinos Varvagiannis edited their review of gene: NUS1: Added comment: Please consider upgrading this gene (NUS1 is also rated Green in the epilepsy panel). Den et al (2019 - PMID: 31656175) reported on 2 additional unrelated individuals (aged 17 and 59y) both presenting intellectual disability, epilepsy , involuntary movements, ataxia and scoliosis. Both were found to harbor the same splicing variant in NUS1 (NM_138459.4:c.691+1C>A) following exome sequencing. Using lymphoblastoid cell lines from both individuals it was demonstrated that the variant creates a new splice donor site in exon 3 further creating a new reading frame and producing a premature termination codon [c.601_691del or p.(Arg202Glnfs*9)]. Using cyclohexamide, it was further shown that the mutant mRNA is partially subjected to NMD. [Additional variants identified by exome for the 2 subjects were non diagnostic (/VUS). An SPTAN1 nonsense variant identified in one was inherited from an unaffected parent (dominant-negative mechanism listed in G2P for this gene / in ClinVar all pLoF variants are submitted as VUS)]. -----; Changed rating: GREEN; Changed publications: 25066056, 29100083, 24824130, 30348779, 31656175 |
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| Hereditary ataxia v1.205 | CACNA2D2 | Louise Daugherty Classified gene: CACNA2D2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia v1.205 | CACNA2D2 | Louise Daugherty Gene: cacna2d2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia v1.204 | CACNA2D2 | Louise Daugherty Classified gene: CACNA2D2 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia v1.204 | CACNA2D2 | Louise Daugherty Added comment: Comment on list classification: New gene added to panel by Genomics England clinical team recommendation and upgraded Grey to Green. There is enough evidence to support a Green rating on this panel, confirming biallelic CACNA2D2 variants and pertinent to the corresponding phenotype of Cerebellar anomalies/ataxia/epilepsy/ID. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia v1.204 | CACNA2D2 | Louise Daugherty Gene: cacna2d2 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.213 | TFG | Louise Daugherty edited their review of gene: TFG: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | CACNA2D2 | Louise Daugherty commented on gene: CACNA2D2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | CACNA2D2 | Louise Daugherty Tag watchlist was removed from gene: CACNA2D2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia v1.203 | CACNA2D2 | Louise Daugherty Publications for gene: CACNA2D2 were set to PMID: 30410802, PMID: 31402629, PMID: 24358150, PMID: 23339110, PMID: 29997391; PMID : 14660671; PMID: 15331424 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.213 | TFG | Louise Daugherty Classified gene: TFG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.213 | TFG | Louise Daugherty Added comment: Comment on list classification: Upgraded gene from Amber to Green due to feedback from Genomics England clinical team, due to re-analysing a few cases for diagnostic discovery there is enough evidence to support a Green rating on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.213 | TFG | Louise Daugherty Gene: tfg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.212 | TFG | Louise Daugherty Phenotypes for gene: TFG were changed from to Hereditary spastic paraplegia - childhood onset; Intellectual disability; Hereditary spastic paraplegia - adult onset; neuropathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.211 | TFG | Louise Daugherty Added comment: Comment on publications: added publications to support upgrading from Amber to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.211 | TFG | Louise Daugherty Publications for gene: TFG were set to Beetz et al. (2013) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.368 | AR_CAG | Louise Daugherty Classified STR: AR_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.368 | AR_CAG | Louise Daugherty Added comment: Comment on list classification: Upgraded STR from Amber to Green due to feedback from Genomics England clinical team, due to re-analysing a few cases for diagnostic discovery there is enough evidence to support a Green rating on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.368 | AR_CAG | Louise Daugherty Str: ar_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.367 | AR_CAG | Louise Daugherty Added comment: Comment on publications: added publications to support upgrading from Amber to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.367 | AR_CAG | Louise Daugherty Publications for STR: AR_CAG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.110 | ADAMTSL4 | Ellen Thomas reviewed gene: ADAMTSL4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectopia lentis et pupillae, Ectopia lentis, isolated, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.2 | NDNF |
Simon Thomas gene: NDNF was added gene: NDNF was added to Hypogonadotropic hypogonadism idiopathic. Sources: Literature Mode of inheritance for gene: NDNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NDNF were set to PMID: 31883645 Phenotypes for gene: NDNF were set to Congenital hypogonadotropic hypogonadism (CHH) Penetrance for gene: NDNF were set to unknown Review for gene: NDNF was set to GREEN gene: NDNF was marked as current diagnostic Added comment: Messina et al (Am J Hum Genet Jan 2020) screened NDNF (Neuron-Derived Neurotrophic Factor) because, in common with several IHH genes, it contains a fibronectin-3 (FN3) domain. Three heterozygous protein-truncating variants and one heterozygous missense variant were identified in a cohort of 240 unrelated IHH patients. The authors also provided supporting evidence from animal models. Sources: Literature |
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| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.2 | DGKE | Daniel Gale reviewed gene: DGKE: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23274426; Phenotypes: Proteinuria, membranoproliferative glomerulonephritis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.2 | CFI | Daniel Gale reviewed gene: CFI: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.2 | CFH | Daniel Gale reviewed gene: CFH: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 9312129; Phenotypes: C3 glomerulopathy, Membranoproliferative glomerulonephritis, renal insufficiency, proteinuria; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.2 | CFB | Daniel Gale reviewed gene: CFB: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 25758434; Phenotypes: C3 glomerulopathy, Membranoproliferative glomerulonephritis, renal insufficiency, proteinuria; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.2 | C3 | Daniel Gale reviewed gene: C3: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 20852386, 26471127; Phenotypes: C3 glomerulopathy, Membranoproliferative glomerulonephritis, renal insufficiency, proteinuria; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.0 | TMEM165 | Rebecca Foulger commented on gene: TMEM165 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.0 | SLC39A8 | Rebecca Foulger commented on gene: SLC39A8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.0 | SLC35C1 | Rebecca Foulger commented on gene: SLC35C1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.0 | SLC35A1 | Rebecca Foulger Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.0 | SLC35A1 | Rebecca Foulger commented on gene: SLC35A1: GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=P78382-1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.0 | SLC35A1 | Rebecca Foulger commented on gene: SLC35A1: GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=P78382-1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.0 | SEC23B | Rebecca Foulger commented on gene: SEC23B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.0 | POMT2 | Rebecca Foulger commented on gene: POMT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.0 | POMT1 | Rebecca Foulger commented on gene: POMT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.0 | POMGNT1 | Rebecca Foulger commented on gene: POMGNT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.0 | PMM2 | Rebecca Foulger commented on gene: PMM2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.0 | PIGA | Rebecca Foulger commented on gene: PIGA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.0 | PGM1 | Rebecca Foulger commented on gene: PGM1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.0 | NGLY1 | Rebecca Foulger commented on gene: NGLY1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.0 | MOGS | Rebecca Foulger commented on gene: MOGS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.0 | MGAT2 | Rebecca Foulger commented on gene: MGAT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.0 | LARGE1 | Rebecca Foulger commented on gene: LARGE1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.0 | GNE | Rebecca Foulger commented on gene: GNE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.0 | GFPT1 | Rebecca Foulger commented on gene: GFPT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.0 | GALNT3 | Rebecca Foulger commented on gene: GALNT3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.0 | FKTN | Rebecca Foulger commented on gene: FKTN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.0 | FKRP | Rebecca Foulger commented on gene: FKRP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.0 | EXT2 | Rebecca Foulger commented on gene: EXT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.0 | EXT1 | Rebecca Foulger commented on gene: EXT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.0 | DPAGT1 | Rebecca Foulger commented on gene: DPAGT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.0 | COG8 | Rebecca Foulger commented on gene: COG8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.0 | COG7 | Rebecca Foulger commented on gene: COG7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.0 | COG6 | Rebecca Foulger commented on gene: COG6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.0 | COG5 | Rebecca Foulger commented on gene: COG5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.0 | COG4 | Rebecca Foulger commented on gene: COG4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.0 | COG1 | Rebecca Foulger commented on gene: COG1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.0 | CHSY1 | Rebecca Foulger commented on gene: CHSY1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.0 | CHST6 | Rebecca Foulger commented on gene: CHST6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.0 | CHST3 | Rebecca Foulger commented on gene: CHST3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.0 | CCDC115 | Rebecca Foulger commented on gene: CCDC115 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.0 | B4GALT1 | Rebecca Foulger commented on gene: B4GALT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.0 | B3GLCT | Rebecca Foulger commented on gene: B3GLCT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related v0.92 | APOB | Ellen McDonagh Mode of pathogenicity for gene: APOB was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.0 | HNF4A |
Zornitza Stark gene: HNF4A was added gene: HNF4A was added to Renal tubulopathies. Sources: Expert list Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HNF4A were set to 22802087; 24285859; 30005691; 28458902; 31875549 Phenotypes for gene: HNF4A were set to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, MIM#616026 Review for gene: HNF4A was set to GREEN gene: HNF4A was marked as current diagnostic Added comment: Multiple individuals reported. Sources: Expert list |
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| Atypical haemolytic uraemic syndrome v2.1 | CFHR5 |
Zornitza Stark gene: CFHR5 was added gene: CFHR5 was added to Atypical haemolytic uraemic syndrome. Sources: Expert list Mode of inheritance for gene: CFHR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CFHR5 were set to 22622361 Phenotypes for gene: CFHR5 were set to Nephropathy due to CFHR5 deficiency, MIM# 614809 Review for gene: CFHR5 was set to AMBER Added comment: There is at least one paper specifically linking variants in this gene with aHUS, not quite sure where this gene belongs. Sources: Expert list |
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| Atypical haemolytic uraemic syndrome v2.1 | ADAMTS13 |
Zornitza Stark gene: ADAMTS13 was added gene: ADAMTS13 was added to Atypical haemolytic uraemic syndrome. Sources: Expert list Mode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAMTS13 were set to Thrombotic thrombocytopenic purpura, familial, MIM# 274150 Review for gene: ADAMTS13 was set to AMBER Added comment: It is difficult to know whether to include this gene on an aHUS panel; there is considerable overlap in the clinical features between TTP and HUS, and we have included it in ours. Sources: Expert list |
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| Proteinuric renal disease v2.0 | TPRKB | chirag patel reviewed gene: TPRKB: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 28805828, 30053862; Phenotypes: Galloway-Mowat syndrome 5, OMIM #617731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.0 | PTPRO | Zornitza Stark reviewed gene: PTPRO: Rating: AMBER; Mode of pathogenicity: None; Publications: 21722858, 30065916; Phenotypes: Nephrotic syndrome, type 6 #614196; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.0 | KANK2 | Zornitza Stark reviewed gene: KANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25961457; Phenotypes: Nephrotic syndrome, type 16, MIM#617783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.0 | DGKE | Zornitza Stark reviewed gene: DGKE: Rating: GREEN; Mode of pathogenicity: None; Publications: 23542698, 23274426; Phenotypes: Nephrotic syndrome, type 7, MIM# 615008; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.0 | CD2AP | chirag patel Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.0 | CD2AP | chirag patel reviewed gene: CD2AP: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30612599, 17713465; Phenotypes: Glomerulosclerosis, focal segmental, 3, OMIM #607832; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.0 | CD2AP | Zornitza Stark reviewed gene: CD2AP: Rating: AMBER; Mode of pathogenicity: None; Publications: 17713465, 30612599; Phenotypes: Glomerulosclerosis, focal segmental, 3 #607832; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.0 | APOE |
Zornitza Stark gene: APOE was added gene: APOE was added to Proteinuric renal disease. Sources: Expert list Mode of inheritance for gene: APOE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: APOE were set to 10432380; 9176854; 18077821 Phenotypes for gene: APOE were set to Lipoprotein glomerulopathy, MIM# 611771 Review for gene: APOE was set to GREEN Added comment: Specific variants in Japanese/Chinese linked to the development of a glomerulopathy, characterised by proteinuria, renal failure and deposition of lipoprotein thrombi. Sources: Expert list |
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| Proteinuric renal disease v2.0 | AMN | Zornitza Stark reviewed gene: AMN: Rating: GREEN; Mode of pathogenicity: None; Publications: 30691194, 26040326; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratoderma and erythrokeratodermas v1.17 | CTSC | Catherine Snow Classified gene: CTSC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratoderma and erythrokeratodermas v1.17 | CTSC | Catherine Snow Added comment: Comment on list classification: Gene added to panel based on feedback from Genomics England clinician. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratoderma and erythrokeratodermas v1.17 | CTSC | Catherine Snow Gene: ctsc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratoderma and erythrokeratodermas v1.16 | CTSC |
Zerin Hyder gene: CTSC was added gene: CTSC was added to Palmoplantar keratoderma and erythrokeratodermas. Sources: Expert list Mode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTSC were set to 10581027; 15585850; 11180012; 10662807 Phenotypes for gene: CTSC were set to Papillon-Lefevre syndrome; Haim-Munk syndrome; Periodontitis 1, juvenile Penetrance for gene: CTSC were set to unknown Review for gene: CTSC was set to GREEN gene: CTSC was marked as current diagnostic Added comment: This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. CTSC green on GMS panel, upgrade on 100K panel. Sources: Expert list |
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| Hereditary spastic paraplegia v1.210 | TFG | Zerin Hyder reviewed gene: TFG: Rating: GREEN; Mode of pathogenicity: None; Publications: 23479643, 27601211, 28124177, 27492651; Phenotypes: Hereditary spastic paraplegia - childhood onset, Intellectual disability, Hereditary spastic paraplegia - adult onset; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.366 | AR_CAG | Zerin Hyder reviewed STR: AR_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: 8469342, 15851746, 1449253; Phenotypes: Spinal and bulbar muscular atrophy or Kennedy diseases 313200; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | ASTN1 |
Zornitza Stark gene: ASTN1 was added gene: ASTN1 was added to Genetic epilepsy syndromes. Sources: Expert list Mode of inheritance for gene: ASTN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASTN1 were set to 29706646; 27431290; 26539891 Phenotypes for gene: ASTN1 were set to Intellectual disability; epilepsy; cortical malformations Review for gene: ASTN1 was set to GREEN gene: ASTN1 was marked as current diagnostic Added comment: Three families reported as part of large cohorts albeit proposing multiple novel candidate genes with minimal detail and no functional validation. Sources: Expert list |
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| Early onset or syndromic epilepsy v2.0 | ASNS |
Zornitza Stark gene: ASNS was added gene: ASNS was added to Genetic epilepsy syndromes. Sources: Expert list Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASNS were set to Asparagine synthetase deficiency, MIM# 615574 Review for gene: ASNS was set to GREEN Added comment: Encephalopathy, including seizures is a feature of this metabolic condition. Sources: Expert list |
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| Early onset or syndromic epilepsy v2.0 | APC2 | Zornitza Stark reviewed gene: APC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31585108; Phenotypes: Cortical dysplasia, complex, with other brain malformations 10, MIM#618677; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | ADRA2B | Zornitza Stark reviewed gene: ADRA2B: Rating: RED; Mode of pathogenicity: None; Publications: 24114805, 21937992; Phenotypes: Cortical myoclonus and epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | ADAM22 |
Zornitza Stark gene: ADAM22 was added gene: ADAM22 was added to Genetic epilepsy syndromes. Sources: Expert list Mode of inheritance for gene: ADAM22 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAM22 were set to 27066583; 30237576 Phenotypes for gene: ADAM22 were set to Epileptic encephalopathy, early infantile, 61, MIM# 617933 Review for gene: ADAM22 was set to AMBER Added comment: Two families reported; the second one as part of a large consanguineous cohort. Sources: Expert list |
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| Thoracic aortic aneurysm or dissection v1.110 | CBS | Ivone Leong Classified gene: CBS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.110 | CBS | Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber based on evidence provided by expert reviews. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.110 | CBS | Ivone Leong Gene: cbs has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | RNF113A |
Konstantinos Varvagiannis gene: RNF113A was added gene: RNF113A was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: RNF113A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: RNF113A were set to 25612912; 31880405; 31793730; 29133357; 30506991; 15256591; 24026126; 23555887 Phenotypes for gene: RNF113A were set to ?Trichothiodystrophy 5, nonphotosensitive, 300953 Penetrance for gene: RNF113A were set to Complete Review for gene: RNF113A was set to GREEN Added comment: The gene has been reviewed for the ID panel. Seizures have been reported in 4 affected males from 3 families. From the ID panel: Nonphotosensitive trichothiodystrophy-5 (TTD5 - #300953) is caused by mutation in the RNF113A gene on Xq24. DD, ID and seizures are part of the phenotype in males. (Several) heterozygous females have not been reported to exhibit these features (DD/ID/seizures) although a single female in the first report had speech/motor delay and learning difficulties. Corbett et al (2015 - PMID: 25612912) reported on 2 cousins with profound ID and epilepsy among other principal features of the disorder. Linkage analysis (probably low(?) LOD score) localized the gene to a 7.75 Mb region on Xq and subsequent Sanger and exome sequencing identified an RNF113A stopgain variant in both (NM_006978.2:c.901C>T / p.Q301*). Other X-chr variants did not segregate with the disorder. Previously sequencing of other trichothiodystrophy genes (in both) and CMA (X-chromosome BAC array / ISCA CMA) were non-diagnostic. The variant in this family was identified in a previous study (Tarpey et al 2009 - PMID: 19377476) but was 'incorrectly' discarded at the time due to a sequencing error in a control DNA sample (analysis repeated by Corbett et al). The same variant was also reported in 2 fetuses in a later report (PMID: 31793730). Mendelsohn et al (2019 - PMID: 31880405) reported on 2 unrelated affected males. The 1st presented with severe DD/ID (independent walking at 7y, single words/non-verbal with with special educational needs at 11y), seizures as well as typical features of the disorder. Metabolic work-up (incl. 7-DHCR) and genetic testing (Allagile, PFIC genes, CMA) were non-diagnostic. Duo WES revealed a frameshift variant [c.903_910delGCAGACCCA / p.(Gln302fs*12)] inherited from the mother. Maternal XCI was completely skewed (100:0). The 2nd individual (briefly reported as REQ18-0616 by Monies et al - PMID: 31130284) presented global DD and seizures along with all other core features of the disorder at the age of 16m. Karyotype was normal. Exome revealed a frameshift variant [NM_006978.3:c.897_898delTG / p.(Cys299*)]. Further evidence is based on the role of the RNA113A, being involved in mRNA splicing (/spiceosome function) [Gatti da Silva et al 2018 - PMID: 30506991 & many other Refs] as well in DNA repair (E3 ubiquitin-protein ligase in a mechanism for sensing DNA damage induced by alkylation) [Brickner et al 2017 - PMID: 29133357]. In the latter study, LCLs from individuals harboring Q301* were shown to be hypersensitive to an alkylating agent (MMS) which was also the case for an RNF113A knockdown cell line. The cells had reduced ASCC alkylation repair complex foci formation, which was rescued upon reconstitution of patient cells with wt RNF113A. Animal models : Disruption of rnf113a in zebrafish resulted among others in small head and underdeveloped gut (PMID cited : 15256591 - Amsterdam et al) similar to the microcephaly observed in several individuals and/or abnormal gut development/diarrhoea reported in few. Knockdown of the Drosophila ortholog (mdlc) led to reduced proliferation of neuroblasts. Neuronal differentiation was initiated but not completed. Expression of the full-length human gene rescued the CNS defects (discussed by Mendelsohn et al citing PMID: 24026126 - Carney et al). RNA-seq data from the same study were analyzed by Corbett et al, and differentialy expressed genes were enriched for genes involved in DNA damage response and repair. Knockdown of RNF-113 in C.elegans sensitises cells to UVA-induced DNA damage. RNF-113 was shown to be involved in interstrand DNA crosslink repair and interact with a RAD51C homolog (PMID cited: 23555887 - Lee et al). [Please consider upgrade/inclusion in other relevant panels eg. the 'Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome panel' where the gene has red rating]. Sources: Literature |
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| Intellectual disability v3.0 | RNF113A | Konstantinos Varvagiannis reviewed gene: RNF113A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25612912, 31880405, 31793730, 29133357, 30506991, 15256591, 24026126, 23555887; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders v1.123 | PDE6D | Zornitza Stark reviewed gene: PDE6D: Rating: AMBER; Mode of pathogenicity: None; Publications: 30423442; Phenotypes: Joubert syndrome type 22 (JBTS22); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.0 | SLC41A1 |
Zornitza Stark gene: SLC41A1 was added gene: SLC41A1 was added to Renal ciliopathies. Sources: Expert list Mode of inheritance for gene: SLC41A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC41A1 were set to 23661805 Phenotypes for gene: SLC41A1 were set to Nephronophthisis Review for gene: SLC41A1 was set to RED Added comment: Single family reported, functional data. Sources: Expert list |
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| Renal ciliopathies v1.0 | SCLT1 |
Zornitza Stark gene: SCLT1 was added gene: SCLT1 was added to Renal ciliopathies. Sources: Expert list Mode of inheritance for gene: SCLT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCLT1 were set to 28486600; 30425282; 30237576; 28005958; 24285566 Phenotypes for gene: SCLT1 were set to Orofaciodigital syndrome type IX; Senior-Loken syndrome Review for gene: SCLT1 was set to AMBER Added comment: Emerging ciliopathy gene, at least one report of renal involvement; mouse model recapitulates phenotype. Sources: Expert list |
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| Renal ciliopathies v1.0 | PDE6D | Zornitza Stark reviewed gene: PDE6D: Rating: RED; Mode of pathogenicity: None; Publications: 30423442; Phenotypes: Joubert syndrome 22; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.0 | NEK1 |
Zornitza Stark gene: NEK1 was added gene: NEK1 was added to Renal ciliopathies. Sources: Expert list Mode of inheritance for gene: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NEK1 were set to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520 Review for gene: NEK1 was set to GREEN Added comment: A ciliopathy with a renal phenotype. Sources: Expert list |
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| Renal ciliopathies v1.0 | KIF14 | Zornitza Stark reviewed gene: KIF14: Rating: GREEN; Mode of pathogenicity: None; Publications: 30388224; Phenotypes: Microcephaly, renal hypo/dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.0 | KIAA0556 | Zornitza Stark reviewed gene: KIAA0556: Rating: ; Mode of pathogenicity: None; Publications: 27245168, 26714646; Phenotypes: Joubert syndrome 26; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.0 | IFT140 |
chirag patel gene: IFT140 was added gene: IFT140 was added to Renal ciliopathies. Sources: Expert Review Mode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT140 were set to PMID: 22503633, 23418020, 29706353 Phenotypes for gene: IFT140 were set to Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM #266920 (aka Mainzer-Saldino syndrome) Review for gene: IFT140 was set to GREEN Added comment: Renal ciliopathy gene with phenotype of Mainzer-Saldino syndrome. Nephronophthisis reported in multiple cases, with functional evidence (Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype). Sources: Expert Review |
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| Renal ciliopathies v1.0 | IFT27 | Zornitza Stark reviewed gene: IFT27: Rating: GREEN; Mode of pathogenicity: None; Publications: 30761183; Phenotypes: Bardet-Biedl syndrome 19, MIM# 615996; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.0 | IFT172 |
Zornitza Stark gene: IFT172 was added gene: IFT172 was added to Renal ciliopathies. Sources: Expert list Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT172 were set to Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630 Review for gene: IFT172 was set to GREEN Added comment: Nephronophthisis is a recognised feature of this ciliopathy. Sources: Expert list |
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| Renal ciliopathies v1.0 | ICK | Zornitza Stark reviewed gene: ICK: Rating: AMBER; Mode of pathogenicity: None; Publications: 19185282, 27069622; Phenotypes: Endocrine-cerebroosteodysplasia, MIM# 612651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.0 | HNF1B | Zornitza Stark reviewed gene: HNF1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.0 | DHCR7 | chirag patel reviewed gene: DHCR7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.0 | CENPF | Zornitza Stark reviewed gene: CENPF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Stromme syndrome, MIM# 243605; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.0 | ARMC9 | Zornitza Stark commented on gene: ARMC9: Gene not associated with a renal phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.0 | ALMS1 | Zornitza Stark reviewed gene: ALMS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alstrom syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.0 | ARMC9 | Zornitza Stark edited their review of gene: ARMC9: Added comment: Specifically no renal phenotype described with this gene, plus this is a syndromic condition.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | MTHFS |
Konstantinos Varvagiannis gene: MTHFS was added gene: MTHFS was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: MTHFS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTHFS were set to 30031689; 31844630; 22303332; https://doi.org/10.1007/978-3-642-40337-8_10 Phenotypes for gene: MTHFS were set to Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367 Penetrance for gene: MTHFS were set to Complete Review for gene: MTHFS was set to GREEN Added comment: Biallelic pathogenic MTHFS variants cause Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination (# 618367). The gene encodes 5,10-Methenyltetrahydrofolate synthetase which catalyzes conversion of 5-formyltetrahydrofolate (5-FTHF or folinic acid) to 5,10-methenyltetrahydrofolate (5,10-MTHF). At least 3 unrelated individuals have been reported. The phenotype appears to be relevant to both epilepsy and ID gene panels and the role of variants/the gene supported by enzymatic activity studies, 5-FTHF accumulation, 5,10-MTHF levels (low/low-normal), the role of folate metabolism pathway overall and some supporting (metabolic) evidence from the mouse model. --- Rodan et al (2018 - PMID: 30031689) reported on 2 individuals both presenting with microcephaly, severe global DD, epilepsy, progressive spasticity and cerebral hypomyelination upon MRI imaging. Short stature was also feature in both. The 1st patient was an 8-year-old male who following exome sequencing was found to harbor 2 missense variants each inherited from a carrier parent. (NM_006441.3:c.434G>A / p.R145Q and c.107T>C / p.L36P). A further AFG3L2 indel was not felt to fit with his phenotype (and the onset of the related disorder appears to occur later). Previous investigations included extensive metabolic testing, CMA, Angelman syndrome methylation analysis, GFAP, POLG1, TYMP sequencing, mitochondrial genome analysis and an XL-ID gene panel (further suggesting relevance of this gene to the current panel) were all non-diagnostic. CSF 5-MTHF levels were initially on the low-normal range, subsequently found to be decreased (upon folinic acid supplementation) and later normalized upon use of another regimen. MTHFS activity was measured in control fibroblasts as well as fibroblasts from this individual, with the latter demonstrating no enzyme activity. Accumulation (30x elevation) of 5-FTHF (the substrate of MTHFS) was demonstrated in patient fibroblasts. The 2nd patient was a 11-year-old male with similar features incl. global DD (standing/walking/single words at/after 4 years of age, limited vocabulary and articulation upon last examination). Extensive metabolic work-up as well as genetic testing for an epilepsy panel, vanishing white matter disease gene panel, mitochondrial genome as well as specific gene sequencing (LAMA2, POLR3A, POLR3B) were all non-diagnostic. Trio exome revealed 2 MTHFS variants in trans configuration (c.484C>T / p.Q162X and c.434G>A / p.R145Q). --- Romero et al (2019 - PMID: 31844630) reported on a 4-year-old female with congenital microcephaly, severe global DD (nonverbal/nonambulatory at the age of 4), spasticity, epilepsy and cerebral hypomyelination. Extensive investigations prior to exome sequencing revealed macrocytic anemia, decreased CSF 5-MTHF and elevated neopterin, 2 CNVs of uncertain significance upon CMA with additional long ROH on chr15. Methylation studies were negative. The child was homozygous for c.220C>T / p.R74X (RefSeq is probably NM_006441.3. MTHFS lies on chr15. The parents were unrelated but came from the same town). There were no other candidate variants from the exome analysis. Both articles discuss extensively the role of the folate metabolism pathway overall in nucleic acid synthesis, AA metabolism, neurotransmitter synthesis, methylation as well as 5-FTHF / 5,10-MTHF in particular in myelin stabilization and DNA synthesis (eg. according to Romero et al. a defect in MTHFS would impair myelin production and also lead to decreased myelin stability). --- A book chapter cited by Rodan et al (in N. Blau et al. (eds.), Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases - DOI: 10.1007/978-3-642-40337-8_10) included limited details on a patient with 'MTHFS gene mutation'. This individual had early speech delay, seizures beginning in infancy, ID, autistic features, recurrent infections and was found to have very low CSF 5-MTHF levels. [Details in p169 and table 10.6 - p173]. --- In a mouse model reported by Field et al (2011 - PMID: 22303332), Mthfs was disrupted through insertion of a gene trap vector between the first 2 exons. Heterozygous [Mthfs(gt/+)] mice were fertile and viable. Mthfs protein levels were slightly but not statistically significantly reduced in tissues measured. No homozygous embryos were recovered following intercrosses of heterozygous mice, suggesting that Mthfs is an essential gene. Mouse embryonic fibroblasts from heterozygous mice [Mthfs (gt/+)] exhibited reduced de novo purine biosynthesis, but did not exhibit altered de novo thymidylate biosynthesis. Plasma folate levels were altered in heterozygous mice on a standard (/control) diet. [Please consider inclusion in other possibly relevant panels e.g. for metabolic disorders] Sources: Literature |
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| Intellectual disability v3.0 | MTHFS |
Konstantinos Varvagiannis changed review comment from: Biallelic pathogenic MTHFS variants cause Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination (# 618367). The gene encodes 5,10-Methenyltetrahydrofolate synthetase which catalyzes conversion of 5-formyltetrahydrofolate (5-FTHF or folinic acid) to 5,10-methenyltetrahydrofolate (5,10-MTHF). At least 3 unrelated individuals have been reported. The phenotype appears to be relevant to both epilepsy and ID gene panels and the role of variants/the gene supported by enzymatic activity studies, 5-FTHF accumulation, 5,10-MTHF levels (low/low-normal), the role of folate metabolism pathway overall and some supporting (metabolic) evidence from the mouse model. --- Rodan et al (2018 - PMID: 30031689) reported on 2 individuals both presenting with microcephaly, severe global DD, epilepsy, progressive spasticity and cerebral hypomyelination upon MRI imaging. Short stature was also feature in both. The 1st patient was an 8-year-old male who following exome sequencing was found to harbor 2 missense variants each inherited from a carrier parent. (NM_006441.3:c.434G>A / p.R145Q and c.107T>C / p.L36P). A further AFG3L2 indel was not felt to fit with his phenotype (and the onset of the related disorder appears to occur later). Previous investigations included extensive metabolic testing, CMA, Angelman syndrome methylation analysis, GFAP, POLG1, TYMP sequencing, mitochondrial genome analysis and an XL-ID gene panel (further suggesting relevance of this gene to the current panel) were all non-diagnostic. CSF 5-MTHF levels were initially on the low-normal range, subsequently found to be decreased (upon folinic acid supplementation) and later normalized upon use of another regimen. MTHFS activity was measured in control fibroblasts as well as fibroblasts from this individual, with the latter demonstrating no enzyme activity. Accumulation (30x elevation) of 5-FTHF (the substrate of MTHFS) was demonstrated in patient fibroblasts. The 2nd patient was a 11-year-old male with similar features incl. global DD (standing/walking/single words at/after 4 years of age, limited vocabulary and articulation upon last examination). Extensive metabolic work-up as well as genetic testing for an epilepsy panel, vanishing white matter disease gene panel, mitochondrial genome as well as specific gene sequencing (LAMA2, POLR3A, POLR3B) were all non-diagnostic. Trio exome revealed 2 MTHFS variants in trans configuration (c.484C>T / p.Q162X and c.434G>A / p.R145Q). --- Romero et al (2019 - PMID: 31844630) reported on a 4-year-old female with congenital microcephaly, severe global DD (nonverbal/nonambulatory at the age of 4), spasticity, epilepsy and cerebral hypomyelination. Extensive investigations prior to exome sequencing revealed macrocytic anemia, decreased CSF 5-MTHF and elevated neopterin, 2 CNVs of uncertain significance upon CMA with additional long ROH on chr15. Methylation studies were negative. The child was homozygous for c.220C>T / p.R74X (RefSeq is probably NM_006441.3. MTHFS lies on chr15. The parents were unrelated but came from the same town). There were no other candidate variants from the exome analysis. Both articles discuss extensively the role of the folate metabolism pathway overall in nucleic acid synthesis, AA metabolism, neurotransmitter synthesis, methylation as well as 5-FTHF / 5,10-MTHF in particular in myelin stabilization and DNA synthesis (eg. according to Romero et al. a defect in MTHFS would impair myelin production and also lead to decreased myelin stability). --- A book chapter cited by Rodan et al (in N. Blau et al. (eds.), Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases - DOI: 10.1007/978-3-642-40337-8_10) included limited details on a patient with 'MTHFS gene mutation'. This individual had early speech delay, seizures beginning in infancy, ID, autistic features, recurrent infections and was found to have very low CSF 5-MTHF levels. [Details in p169 and table 10.6 - p173]. --- In a mouse model reported by Field et al (2011 - PMID: 22303332), Mthfs was disrupted through insertion of a gene trap vector between the first 2 exons. Heterozygous [Mthfs(gt/+)] mice were fertile and viable. Mthfs protein levels were slightly but not statistically significantly reduced in tissues measured. No homozygous embryos were recovered following intercrosses of heterozygous mice, suggesting that Mthfs is an essential gene. Mouse embryonic fibroblasts from heterozygous mice [Mthfs (gt/+)] exhibited reduced de novo purine biosynthesis, but did not exhibit altered de novo thymidylate biosynthesis. Plasma folate levels were altered in heterozygous mice on a standard (/control) diet. Sources: Literature; to: Biallelic pathogenic MTHFS variants cause Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination (# 618367). The gene encodes 5,10-Methenyltetrahydrofolate synthetase which catalyzes conversion of 5-formyltetrahydrofolate (5-FTHF or folinic acid) to 5,10-methenyltetrahydrofolate (5,10-MTHF). At least 3 unrelated individuals have been reported. The phenotype appears to be relevant to both epilepsy and ID gene panels and the role of variants/the gene supported by enzymatic activity studies, 5-FTHF accumulation, 5,10-MTHF levels (low/low-normal), the role of folate metabolism pathway overall and some supporting (metabolic) evidence from the mouse model. --- Rodan et al (2018 - PMID: 30031689) reported on 2 individuals both presenting with microcephaly, severe global DD, epilepsy, progressive spasticity and cerebral hypomyelination upon MRI imaging. Short stature was also feature in both. The 1st patient was an 8-year-old male who following exome sequencing was found to harbor 2 missense variants each inherited from a carrier parent. (NM_006441.3:c.434G>A / p.R145Q and c.107T>C / p.L36P). A further AFG3L2 indel was not felt to fit with his phenotype (and the onset of the related disorder appears to occur later). Previous investigations included extensive metabolic testing, CMA, Angelman syndrome methylation analysis, GFAP, POLG1, TYMP sequencing, mitochondrial genome analysis and an XL-ID gene panel (further suggesting relevance of this gene to the current panel) were all non-diagnostic. CSF 5-MTHF levels were initially on the low-normal range, subsequently found to be decreased (upon folinic acid supplementation) and later normalized upon use of another regimen. MTHFS activity was measured in control fibroblasts as well as fibroblasts from this individual, with the latter demonstrating no enzyme activity. Accumulation (30x elevation) of 5-FTHF (the substrate of MTHFS) was demonstrated in patient fibroblasts. The 2nd patient was a 11-year-old male with similar features incl. global DD (standing/walking/single words at/after 4 years of age, limited vocabulary and articulation upon last examination). Extensive metabolic work-up as well as genetic testing for an epilepsy panel, vanishing white matter disease gene panel, mitochondrial genome as well as specific gene sequencing (LAMA2, POLR3A, POLR3B) were all non-diagnostic. Trio exome revealed 2 MTHFS variants in trans configuration (c.484C>T / p.Q162X and c.434G>A / p.R145Q). --- Romero et al (2019 - PMID: 31844630) reported on a 4-year-old female with congenital microcephaly, severe global DD (nonverbal/nonambulatory at the age of 4), spasticity, epilepsy and cerebral hypomyelination. Extensive investigations prior to exome sequencing revealed macrocytic anemia, decreased CSF 5-MTHF and elevated neopterin, 2 CNVs of uncertain significance upon CMA with additional long ROH on chr15. Methylation studies were negative. The child was homozygous for c.220C>T / p.R74X (RefSeq is probably NM_006441.3. MTHFS lies on chr15. The parents were unrelated but came from the same town). There were no other candidate variants from the exome analysis. Both articles discuss extensively the role of the folate metabolism pathway overall in nucleic acid synthesis, AA metabolism, neurotransmitter synthesis, methylation as well as 5-FTHF / 5,10-MTHF in particular in myelin stabilization and DNA synthesis (eg. according to Romero et al. a defect in MTHFS would impair myelin production and also lead to decreased myelin stability). --- A book chapter cited by Rodan et al (in N. Blau et al. (eds.), Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases - DOI: 10.1007/978-3-642-40337-8_10) included limited details on a patient with 'MTHFS gene mutation'. This individual had early speech delay, seizures beginning in infancy, ID, autistic features, recurrent infections and was found to have very low CSF 5-MTHF levels. [Details in p169 and table 10.6 - p173]. --- In a mouse model reported by Field et al (2011 - PMID: 22303332), Mthfs was disrupted through insertion of a gene trap vector between the first 2 exons. Heterozygous [Mthfs(gt/+)] mice were fertile and viable. Mthfs protein levels were slightly but not statistically significantly reduced in tissues measured. No homozygous embryos were recovered following intercrosses of heterozygous mice, suggesting that Mthfs is an essential gene. Mouse embryonic fibroblasts from heterozygous mice [Mthfs (gt/+)] exhibited reduced de novo purine biosynthesis, but did not exhibit altered de novo thymidylate biosynthesis. Plasma folate levels were altered in heterozygous mice on a standard (/control) diet. [Please consider inclusion in other possibly relevant panels e.g. for metabolic disorders] Sources: Literature |
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| Intellectual disability v3.0 | MTHFS |
Konstantinos Varvagiannis gene: MTHFS was added gene: MTHFS was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: MTHFS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTHFS were set to 30031689; 31844630; 22303332; https://doi.org/10.1007/978-3-642-40337-8_10 Phenotypes for gene: MTHFS were set to Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367 Penetrance for gene: MTHFS were set to Complete Review for gene: MTHFS was set to GREEN Added comment: Biallelic pathogenic MTHFS variants cause Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination (# 618367). The gene encodes 5,10-Methenyltetrahydrofolate synthetase which catalyzes conversion of 5-formyltetrahydrofolate (5-FTHF or folinic acid) to 5,10-methenyltetrahydrofolate (5,10-MTHF). At least 3 unrelated individuals have been reported. The phenotype appears to be relevant to both epilepsy and ID gene panels and the role of variants/the gene supported by enzymatic activity studies, 5-FTHF accumulation, 5,10-MTHF levels (low/low-normal), the role of folate metabolism pathway overall and some supporting (metabolic) evidence from the mouse model. --- Rodan et al (2018 - PMID: 30031689) reported on 2 individuals both presenting with microcephaly, severe global DD, epilepsy, progressive spasticity and cerebral hypomyelination upon MRI imaging. Short stature was also feature in both. The 1st patient was an 8-year-old male who following exome sequencing was found to harbor 2 missense variants each inherited from a carrier parent. (NM_006441.3:c.434G>A / p.R145Q and c.107T>C / p.L36P). A further AFG3L2 indel was not felt to fit with his phenotype (and the onset of the related disorder appears to occur later). Previous investigations included extensive metabolic testing, CMA, Angelman syndrome methylation analysis, GFAP, POLG1, TYMP sequencing, mitochondrial genome analysis and an XL-ID gene panel (further suggesting relevance of this gene to the current panel) were all non-diagnostic. CSF 5-MTHF levels were initially on the low-normal range, subsequently found to be decreased (upon folinic acid supplementation) and later normalized upon use of another regimen. MTHFS activity was measured in control fibroblasts as well as fibroblasts from this individual, with the latter demonstrating no enzyme activity. Accumulation (30x elevation) of 5-FTHF (the substrate of MTHFS) was demonstrated in patient fibroblasts. The 2nd patient was a 11-year-old male with similar features incl. global DD (standing/walking/single words at/after 4 years of age, limited vocabulary and articulation upon last examination). Extensive metabolic work-up as well as genetic testing for an epilepsy panel, vanishing white matter disease gene panel, mitochondrial genome as well as specific gene sequencing (LAMA2, POLR3A, POLR3B) were all non-diagnostic. Trio exome revealed 2 MTHFS variants in trans configuration (c.484C>T / p.Q162X and c.434G>A / p.R145Q). --- Romero et al (2019 - PMID: 31844630) reported on a 4-year-old female with congenital microcephaly, severe global DD (nonverbal/nonambulatory at the age of 4), spasticity, epilepsy and cerebral hypomyelination. Extensive investigations prior to exome sequencing revealed macrocytic anemia, decreased CSF 5-MTHF and elevated neopterin, 2 CNVs of uncertain significance upon CMA with additional long ROH on chr15. Methylation studies were negative. The child was homozygous for c.220C>T / p.R74X (RefSeq is probably NM_006441.3. MTHFS lies on chr15. The parents were unrelated but came from the same town). There were no other candidate variants from the exome analysis. Both articles discuss extensively the role of the folate metabolism pathway overall in nucleic acid synthesis, AA metabolism, neurotransmitter synthesis, methylation as well as 5-FTHF / 5,10-MTHF in particular in myelin stabilization and DNA synthesis (eg. according to Romero et al. a defect in MTHFS would impair myelin production and also lead to decreased myelin stability). --- A book chapter cited by Rodan et al (in N. Blau et al. (eds.), Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases - DOI: 10.1007/978-3-642-40337-8_10) included limited details on a patient with 'MTHFS gene mutation'. This individual had early speech delay, seizures beginning in infancy, ID, autistic features, recurrent infections and was found to have very low CSF 5-MTHF levels. [Details in p169 and table 10.6 - p173]. --- In a mouse model reported by Field et al (2011 - PMID: 22303332), Mthfs was disrupted through insertion of a gene trap vector between the first 2 exons. Heterozygous [Mthfs(gt/+)] mice were fertile and viable. Mthfs protein levels were slightly but not statistically significantly reduced in tissues measured. No homozygous embryos were recovered following intercrosses of heterozygous mice, suggesting that Mthfs is an essential gene. Mouse embryonic fibroblasts from heterozygous mice [Mthfs (gt/+)] exhibited reduced de novo purine biosynthesis, but did not exhibit altered de novo thymidylate biosynthesis. Plasma folate levels were altered in heterozygous mice on a standard (/control) diet. Sources: Literature |
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| Paediatric or syndromic cardiomyopathy v1.1 | CACNA1C | Ivone Leong Added comment: Comment on mode of inheritance: MOI has been corrected. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.1 | CACNA1C | Ivone Leong Mode of inheritance for gene: CACNA1C was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | WBP2 |
Zornitza Stark gene: WBP2 was added gene: WBP2 was added to Hearing loss. Sources: Expert list Mode of inheritance for gene: WBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WBP2 were set to 26881968 Phenotypes for gene: WBP2 were set to Deafness, autosomal recessive 107, MIM#617639 Review for gene: WBP2 was set to AMBER Added comment: Two unrelated families identified in a large cohort; supportive animal model data. Sources: Expert list |
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| Monogenic hearing loss v2.4 | TOP2B |
Zornitza Stark gene: TOP2B was added gene: TOP2B was added to Hearing loss. Sources: Expert list Mode of inheritance for gene: TOP2B was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Publications for gene: TOP2B were set to 31198993 Phenotypes for gene: TOP2B were set to Deafness, autosomal dominant Added comment: One multigenerational family where variant in this gene segregated with deafness; two additional variants identified in a cohort; supportive animal model data. Sources: Expert list |
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| Monogenic hearing loss v2.4 | TMTC2 |
Zornitza Stark gene: TMTC2 was added gene: TMTC2 was added to Hearing loss. Sources: Expert list Mode of inheritance for gene: TMTC2 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Publications for gene: TMTC2 were set to 29671961; 27311106 Phenotypes for gene: TMTC2 were set to Deafness Review for gene: TMTC2 was set to AMBER Added comment: Two unrelated families reported, no functional evidence. Sources: Expert list |
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| Monogenic hearing loss v2.4 | SPNS2 |
Zornitza Stark gene: SPNS2 was added gene: SPNS2 was added to Hearing loss. Sources: Expert list Mode of inheritance for gene: SPNS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPNS2 were set to 30973865; 25356849 Phenotypes for gene: SPNS2 were set to Deafness, autosomal recessive 115, MIM#618457 Review for gene: SPNS2 was set to AMBER Added comment: Single family reported, mouse model shows progressive hearing loss. Sources: Expert list |
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| Monogenic hearing loss v2.4 | SPATC1L |
Zornitza Stark gene: SPATC1L was added gene: SPATC1L was added to Hearing loss. Sources: Expert list Mode of inheritance for gene: SPATC1L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SPATC1L were set to 30177775 Phenotypes for gene: SPATC1L were set to Deafness Added comment: Two families with compound het variants, and one family with heterozygous variant and dominant pattern of inheritance described, some functional data. Sources: Expert list |
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| Monogenic hearing loss v2.4 | ROR1 |
Zornitza Stark gene: ROR1 was added gene: ROR1 was added to Hearing loss. Sources: Expert list Mode of inheritance for gene: ROR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ROR1 were set to 27162350 Phenotypes for gene: ROR1 were set to Deafness, autosomal recessive 108, MIM#617654 Review for gene: ROR1 was set to AMBER Added comment: Single family, homozygous missense variant in sibs; mouse model. Sources: Expert list |
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| Monogenic hearing loss v2.4 | PPIP5K2 |
Zornitza Stark gene: PPIP5K2 was added gene: PPIP5K2 was added to Hearing loss. Sources: Expert list Mode of inheritance for gene: PPIP5K2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPIP5K2 were set to 29590114 Phenotypes for gene: PPIP5K2 were set to Deafness, autosomal recessive 100, MIM#618422 Review for gene: PPIP5K2 was set to AMBER Added comment: Two apparently unrelated families with multiple affecteds segregating a homozygous missense variant; mouse model. Sources: Expert list |
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| Monogenic hearing loss v2.4 | PLS1 |
Zornitza Stark gene: PLS1 was added gene: PLS1 was added to Hearing loss. Sources: Expert list Mode of inheritance for gene: PLS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PLS1 were set to 31397523; 31432506; 30872814 Phenotypes for gene: PLS1 were set to Deafness Review for gene: PLS1 was set to GREEN gene: PLS1 was marked as current diagnostic Added comment: non-syndromic deafness in 5 families with mono-allelic variants in this gene, and a mouse model. Sources: Expert list |
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| Monogenic hearing loss v2.4 | NARS2 | Zornitza Stark reviewed gene: NARS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25807530, 28077841, 30327238, 25385316; Phenotypes: Deafness, autosomal recessive 94, MIM#618434, Combined oxidative phosphorylation deficiency 24, MIM#616239; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | MPZL2 |
Zornitza Stark gene: MPZL2 was added gene: MPZL2 was added to Hearing loss. Sources: Expert list Mode of inheritance for gene: MPZL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPZL2 were set to 29982980; 29961571 Phenotypes for gene: MPZL2 were set to Deafness, autosomal recessive 111, MIM#618145 Review for gene: MPZL2 was set to GREEN Added comment: 16 individuals from 6 unrelated consanguineous families reported with bi-allelic variants in this gene. Sources: Expert list |
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| Monogenic hearing loss v2.4 | LMX1A | Zornitza Stark reviewed gene: LMX1A: Rating: AMBER; Mode of pathogenicity: None; Publications: 29754270, 29971487; Phenotypes: Deafness, autosomal recessive and autosomal dominant; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | HOMER2 |
Zornitza Stark gene: HOMER2 was added gene: HOMER2 was added to Hearing loss. Sources: Expert list Mode of inheritance for gene: HOMER2 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Publications for gene: HOMER2 were set to 25816005; 30047143; 25816005 Phenotypes for gene: HOMER2 were set to Deafness, autosomal dominant 68, MIM#616707 Review for gene: HOMER2 was set to GREEN gene: HOMER2 was marked as current diagnostic Added comment: Two families reported and a mouse model. Sources: Expert list |
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| Monogenic hearing loss v2.4 | HARS2 | Zornitza Stark reviewed gene: HARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21464306, 27650058, 31827252, 31486067; Phenotypes: Perrault syndrome, deafness, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | GJB6 | Zornitza Stark reviewed gene: GJB6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | GJB3 | Zornitza Stark reviewed gene: GJB3: Rating: RED; Mode of pathogenicity: None; Publications: 9843210; Phenotypes: Deafness, autosomal dominant 2B, MIM#612644; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | EPS8L2 |
Zornitza Stark gene: EPS8L2 was added gene: EPS8L2 was added to Hearing loss. Sources: Expert list Mode of inheritance for gene: EPS8L2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPS8L2 were set to 26282398; 2391890; 28281779 Phenotypes for gene: EPS8L2 were set to Deafness, autosomal recessive 106, MIM#617637 Review for gene: EPS8L2 was set to GREEN gene: EPS8L2 was marked as current diagnostic Added comment: Two unrelated families and a mouse model. Sources: Expert list |
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| Monogenic hearing loss v2.4 | ELMOD3 | Zornitza Stark reviewed gene: ELMOD3: Rating: AMBER; Mode of pathogenicity: None; Publications: 240396609, 31628468, 30284680, 29713870; Phenotypes: Deafness, autosomal recessive 88, MIM#615429, Deafness, autosomal dominant; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | DMXL2 | Zornitza Stark reviewed gene: DMXL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31688942; Phenotypes: Epileptic encephalopathy with deafness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | COL4A6 | Zornitza Stark reviewed gene: COL4A6: Rating: RED; Mode of pathogenicity: None; Publications: 23714752; Phenotypes: Deafness, X-linked 6, MIM#300914; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | CDC14A |
Zornitza Stark gene: CDC14A was added gene: CDC14A was added to Hearing loss. Sources: Expert list Mode of inheritance for gene: CDC14A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDC14A were set to 29293958; 27259055 Phenotypes for gene: CDC14A were set to Deafness, autosomal recessive 32, with or without immotile sperm, MIM#608653 Review for gene: CDC14A was set to GREEN gene: CDC14A was marked as current diagnostic Added comment: Multiple affected individuals from unrelated families reported, plus animal model data. Likely to present with apparently isolated deafness in children. Sources: Expert list |
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| Monogenic hearing loss v2.4 | AIFM1 |
Zornitza Stark gene: AIFM1 was added gene: AIFM1 was added to Hearing loss. Sources: Expert list Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: AIFM1 were set to 25986071 Phenotypes for gene: AIFM1 were set to Deafness, X-linked 5, MIM#300614 Review for gene: AIFM1 was set to GREEN Added comment: More than 10 unrelated families described. Sources: Expert list |
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| Early onset or syndromic epilepsy v2.0 | PUM1 |
Konstantinos Varvagiannis gene: PUM1 was added gene: PUM1 was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: PUM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PUM1 were set to 29474920; 30903679; 31859446 Phenotypes for gene: PUM1 were set to Global developmental delay; Intellectual disability; Seizures; Abnormality of the face; Ataxia; Cryptorchidism Penetrance for gene: PUM1 were set to unknown Review for gene: PUM1 was set to GREEN Added comment: 5 unrelated individuals with de novo pathogenic PUM1 variants have been reported in the literature. DD (5/5), ID (4/5 - relevant severity to the current panel), seizures (4/4 - absence/tonic-clonic, abnormal EEG) and variable other features (incl. facial dysmorphism, ataxia, cryptorchidism) appear to be part of the phenotype. 9 individuals with deletions spanning PUM1 and proximal genes presented similar features. [1] PMID: 29474920 - Gennarino et al (2018) [2] PMID: 30903679 - Bonnemason-Carrere et al (2019) [3] PMID: 31859446 - Voet et al (2019) [with review of the literature] SNVs in relevant individuals were identified by exome sequencing and were in all cases de novo. Arg1147Trp was a recurrent variant reported in 3 unrelated subjects with ID and seizures (Refs 1,2,3 / NM_001020658.1:c.3439C>T). A nonsense variant was reported in an additional one with DD, ID, seizures and additional features (c.2509C>T / p.Arg837* - Ref3). One individual with a de novo missense variant (c.3416G>A / p.Arg1139Trp) with DD and ataxia, though without ID was reported in Ref1. Details on 9 individuals with 0.3 - 5.6 Mb deletions spanning PUM1 and other genes are provided in Ref1. Features also included DD, ID, seizures, ataxia, etc. Extensive initial investigations were reported for individuals in Refs 2 and 3 (various investigations incl. karyotype, SNP-array, targeted sequencing of OPHN1, KANSL1 or of a small panel of ID genes, biopsies and/or metabolic work-up) to rule out alternative causes. These only revealed a likely benign CNV and a GRIA3 SNV of uncertain significance in the case of an individual harboring the recurrent Arg1147Trp variant [Ref2]. Role of the gene (from OMIM): Pumilio proteins, such as PUM1, negatively regulate gene expression by repressing translation of mRNAs to which they bind (Lee et al., 2016). A clinically significant PUM1 target is ataxin (ATXN1; 601556), mutation in which causes spinocerebellar ataxia-1 (SCA1; 601556). Variant studies: - Arg1147Trp was shown to be associated with normal PUM1 mRNA levels, but reduced (to ~43%) PUM1 protein levels in patient fibroblasts. ATXN1 mRNA and protein levels, as well as protein and/or mRNA levels of other PUM1 targets were shown to be increased (Ref1). - In Ref1, in vitro transfection assays with wt or mt PUM1 were performed in HEK293T cells to evaluate repression of ATXN1 and E2F3. While overexpression of wt and Arg1147Trp were able to reduce ATXN1 and E2F3 levels, Arg1139Trp was not able to repress ATXN1 or E2F3. - Upon overexpression in mouse hippocampal neurons, PUM1 missense mutations (among others Arg1139Trp and Arg1147Trp) were shown to alter neuronal morphology. Overall haploinsufficiency is the proposed mechanism for the disorder for which the acronym PADDAS is used (Pumilio1-associated developmental disability, ataxia and seizure). Milder mutations reducing PUM1 levels by 25% are associated with adult-onset ataxia without ID (PRCA or Pumilio1-related cerebellar ataxia) [Ref1]. Mouse models: The role of PUM1 was first suggested in mouse models where Pum1 mutations were shown to lead to a SCA1-like phenotype (PMID cited : 12086639 - Watase et al 2002) further shown to be caused by increased Atxn1 mRNA and protein levels (PMID cited : 25768905 - Gennarino et al 2015). The mouse model seems to recapitulate several of the features observed in affected individuals : Pum1 homozygous ko mice display among others hyperactivity, progressive cerebellar signs, spontaneous seizures as also observed in affected individuals (PMID cited : 25768905 - Gennarino et al 2015). Cryptorchidism was observed in 2 patients similar to testicular hypoplasia reported in Pum1 ko mice (PMID cited : 22342750 - Chen et al 2012). - Heterozygous mice were evaluated in Ref1 with 69% or 75% exhibiting spontaneous seizures by the end of 30 or 35 wks respectively, with abnormal EEG activity already by 16 wks. Additional individuals with PUM1 variants and a relevant phenotype of ID with or without seizures have been reported as part of the DDD study or as external submissions to Decipher and ClinVar : https://decipher.sanger.ac.uk/search?q=PUM1#research-variants/results [ DDD4K.01387 participant ] https://decipher.sanger.ac.uk/search?q=pum1#consented-patients/results [ external submission(s) ] https://www.ncbi.nlm.nih.gov/clinvar/variation/431110/ [ splice-site variant in an individual with ID submitted prior to the 1st publication on the disorder ] Sources: Literature |
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| Intellectual disability v3.0 | PUM1 |
Konstantinos Varvagiannis commented on gene: PUM1: 5 unrelated individuals with de novo pathogenic PUM1 variants have been reported in the literature. DD (5/5), ID (4/5 - relevant severity to the current panel), seizures (4/4 - absence/tonic-clonic, abnormal EEG) and variable other features (incl. facial dysmorphism, ataxia, cryptorchidism) appear to be part of the phenotype. 9 individuals with deletions spanning PUM1 and proximal genes presented similar features. [1] PMID: 29474920 - Gennarino et al (2018) [2] PMID: 30903679 - Bonnemason-Carrere et al (2019) [3] PMID: 31859446 - Voet et al (2019) [with review of the literature] SNVs in relevant individuals were identified by exome sequencing and were in all cases de novo. Arg1147Trp was a recurrent variant reported in 3 unrelated subjects with ID and seizures (Refs 1,2,3 / NM_001020658.1:c.3439C>T). A nonsense variant was reported in an additional one with DD, ID, seizures and additional features (c.2509C>T / p.Arg837* - Ref3). One individual with a de novo missense variant (c.3416G>A / p.Arg1139Trp) with DD and ataxia, though without ID was reported in Ref1. Details on 9 individuals with 0.3 - 5.6 Mb deletions spanning PUM1 and other genes are provided in Ref1. Features also included DD, ID, seizures, ataxia, etc. Extensive initial investigations were reported for individuals in Refs 2 and 3 (various investigations incl. karyotype, SNP-array, targeted sequencing of OPHN1, KANSL1 or of a small panel of ID genes, biopsies and/or metabolic work-up) to rule out alternative causes. These only revealed a likely benign CNV and a GRIA3 SNV of uncertain significance in the case of an individual harboring the recurrent Arg1147Trp variant [Ref2]. Role of the gene (from OMIM): Pumilio proteins, such as PUM1, negatively regulate gene expression by repressing translation of mRNAs to which they bind (Lee et al., 2016). A clinically significant PUM1 target is ataxin (ATXN1; 601556), mutation in which causes spinocerebellar ataxia-1 (SCA1; 601556). Variant studies: - Arg1147Trp was shown to be associated with normal PUM1 mRNA levels, but reduced (to ~43%) PUM1 protein levels in patient fibroblasts. ATXN1 mRNA and protein levels, as well as protein and/or mRNA levels of other PUM1 targets were shown to be increased (Ref1). - In Ref1, in vitro transfection assays with wt or mt PUM1 were performed in HEK293T cells to evaluate repression of ATXN1 and E2F3. While overexpression of wt and Arg1147Trp were able to reduce ATXN1 and E2F3 levels, Arg1139Trp was not able to repress ATXN1 or E2F3. - Upon overexpression in mouse hippocampal neurons, PUM1 missense mutations (among others Arg1139Trp and Arg1147Trp) were shown to alter neuronal morphology. Overall haploinsufficiency is the proposed mechanism for the disorder for which the acronym PADDAS is used (Pumilio1-associated developmental disability, ataxia and seizure). Milder mutations reducing PUM1 levels by 25% are associated with adult-onset ataxia without ID (PRCA or Pumilio1-related cerebellar ataxia) [Ref1]. Mouse models: The role of PUM1 was first suggested in mouse models where Pum1 mutations were shown to lead to a SCA1-like phenotype (PMID cited : 12086639 - Watase et al 2002) further shown to be caused by increased Atxn1 mRNA and protein levels (PMID cited : 25768905 - Gennarino et al 2015). The mouse model seems to recapitulate several of the features observed in affected individuals : Pum1 homozygous ko mice display among others hyperactivity, progressive cerebellar signs, spontaneous seizures as also observed in affected individuals (PMID cited : 25768905 - Gennarino et al 2015). Cryptorchidism was observed in 2 patients similar to testicular hypoplasia reported in Pum1 ko mice (PMID cited : 22342750 - Chen et al 2012). - Heterozygous mice were evaluated in Ref1 with 69% or 75% exhibiting spontaneous seizures by the end of 30 or 35 wks respectively, with abnormal EEG activity already by 16 wks. Additional individuals with PUM1 variants and a relevant phenotype of ID with or without seizures have been reported as part of the DDD study or as external submissions to Decipher and ClinVar : https://decipher.sanger.ac.uk/search?q=PUM1#research-variants/results [ DDD4K.01387 participant ] https://decipher.sanger.ac.uk/search?q=pum1#consented-patients/results [ external submission(s) ] https://www.ncbi.nlm.nih.gov/clinvar/variation/431110/ [ splice-site variant in an individual with ID submitted prior to the 1st publication on the disorder ] |
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| Intellectual disability v3.0 | PUM1 |
Konstantinos Varvagiannis gene: PUM1 was added gene: PUM1 was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: PUM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PUM1 were set to 29474920; 30903679; 31859446 Phenotypes for gene: PUM1 were set to Global developmental delay; Intellectual disability; Seizures; Abnormality of the face; Ataxia; Cryptorchidism Penetrance for gene: PUM1 were set to unknown Review for gene: PUM1 was set to GREEN Added comment: Please consider inclusion in both ID and epilepsy panels with probably green rating. Sources: Literature, Radboud University Medical Center, Nijmegen |
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| Fetal hydrops v1.16 | PKLR |
Zornitza Stark gene: PKLR was added gene: PKLR was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: PKLR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PKLR were set to 29549173; 8285758; 10923218 Phenotypes for gene: PKLR were set to Pyruvate Kinase deficiency Review for gene: PKLR was set to GREEN gene: PKLR was marked as current diagnostic Added comment: PMID 29549173: A large cohort study (n=233) documented fetal anaemia requiring transfusion in 13% of affected fetuses and hydrops fetalis in 4%. Sources: Expert list |
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| Fetal hydrops v1.16 | PTH1R |
Zornitza Stark gene: PTH1R was added gene: PTH1R was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: PTH1R was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTH1R were set to 3975110; 9268097; 8723092 Phenotypes for gene: PTH1R were set to CHONDRODYSPLASIA, BLOMSTRAND TYPE; BOCD Review for gene: PTH1R was set to GREEN gene: PTH1R was marked as current diagnostic Added comment: PMID 3975110 Original case report "The infant was hydropic, showed macroglossia and had very short limbs with normal sized hands and feet" PMID 9268097 Sibling fetuses were both hydropic at 26 and 33 weeks' gestation. PMID 8723092: Both fetuses hydropic, one grossly so. Sources: Expert list |
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| Fetal anomalies v1.0 | AHCY |
Zornitza Stark gene: AHCY was added gene: AHCY was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: AHCY was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AHCY were set to 30121674; 20852937 Phenotypes for gene: AHCY were set to S-adenosylhomocysteine hydrolase deficiency Review for gene: AHCY was set to AMBER Added comment: Please note recent additional report of this condition presenting prenatally with hydrops. Sources: Expert list |
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| Fetal anomalies v1.0 | ALG9 | Zornitza Stark reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 26453364, 31420886; Phenotypes: Congenital disorder of glycosylation, type Il, MIM#608776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.0 | ATP1A2 |
Zornitza Stark gene: ATP1A2 was added gene: ATP1A2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: ATP1A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP1A2 were set to 30690204 Phenotypes for gene: ATP1A2 were set to hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations Review for gene: ATP1A2 was set to AMBER gene: ATP1A2 was marked as current diagnostic Added comment: Three individuals from two unrelated families reported with balleliic LoF variants in this gene and hydrops/congenital abnormalities. Mouse model is perinatal lethal. This is a distinct phenotype from the mono allelic variants associated with alternating hemiplegia. Sources: Expert list |
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| Fetal hydrops v1.16 | TAZ |
Zornitza Stark gene: TAZ was added gene: TAZ was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: TAZ were set to 29476731; 31598953 Phenotypes for gene: TAZ were set to Barth syndrome, MIM#302060 Review for gene: TAZ was set to GREEN gene: TAZ was marked as current diagnostic Added comment: Cardiomyopathy is a recognised feature and hydrops has been described in case reports. Sources: Expert list |
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| Fetal hydrops v1.16 | RYR1 |
Zornitza Stark gene: RYR1 was added gene: RYR1 was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: RYR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RYR1 were set to 28543167; 26932181 Phenotypes for gene: RYR1 were set to Central core disease, MIM# 117000; Multiple pterygium syndrome Review for gene: RYR1 was set to GREEN gene: RYR1 was marked as current diagnostic Added comment: Severe end of spectrum of RYR1-related disorders can present antenatally, including with hydrops. Sources: Expert list |
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| Fetal anomalies v1.0 | PSAT1 | Zornitza Stark reviewed gene: PSAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25152457; Phenotypes: Neu-Laxova syndrome 2, MIM# 616038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.16 | PSAT1 |
Zornitza Stark gene: PSAT1 was added gene: PSAT1 was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSAT1 were set to 30838783; 27475004 Phenotypes for gene: PSAT1 were set to Neu-Laxova syndrome 2, MIM# 616038 Review for gene: PSAT1 was set to AMBER gene: PSAT1 was marked as current diagnostic Added comment: Unclear how frequently hydrops is a manifestation, skin oedema mentioned in a couple of case reports. Sources: Expert list |
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| Fetal hydrops v1.16 | PHGDH |
Zornitza Stark gene: PHGDH was added gene: PHGDH was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHGDH were set to 11895570; 11494295 Phenotypes for gene: PHGDH were set to Neu-Laxova syndrome 1, MIM# 256520 Review for gene: PHGDH was set to GREEN gene: PHGDH was marked as current diagnostic Added comment: Oedema/hydrops is a presenting feature antenatally. Sources: Expert list |
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| Fetal hydrops v1.16 | MVK |
Zornitza Stark gene: MVK was added gene: MVK was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MVK were set to 27012807 Phenotypes for gene: MVK were set to Mevalonic aciduria, MIM#610377 Review for gene: MVK was set to GREEN gene: MVK was marked as current diagnostic Added comment: Reports of severe prenatal presentations with hydrops for this metabolic condition. Sources: Expert list |
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| Fetal hydrops v1.16 | MUSK |
Zornitza Stark gene: MUSK was added gene: MUSK was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: MUSK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MUSK were set to 31750350; 25537362 Phenotypes for gene: MUSK were set to Fetal akinesia deformation sequence 1, MIM# 208150 Review for gene: MUSK was set to GREEN gene: MUSK was marked as current diagnostic Added comment: Hydrops/oedema reported in a number of affected individuals with this fetal akinesia condition. Sources: Expert list |
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| Fetal hydrops v1.16 | KMT2D |
Zornitza Stark gene: KMT2D was added gene: KMT2D was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KMT2D were set to 30293990; 27568880; 15690368 Phenotypes for gene: KMT2D were set to Kabuki syndrome Review for gene: KMT2D was set to GREEN gene: KMT2D was marked as current diagnostic Added comment: There are reports of hydrops fetalis in Kabuki syndrome. Sources: Expert list |
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| Fetal hydrops v1.16 | KLHL40 |
Zornitza Stark gene: KLHL40 was added gene: KLHL40 was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: KLHL40 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KLHL40 were set to 25721947 Phenotypes for gene: KLHL40 were set to Nemaline myopathy 8, autosomal recessive, MIM# 615348 Review for gene: KLHL40 was set to AMBER Added comment: Gene causes fetal akinesia, however can only find one specific report of hydrops. Sources: Expert list |
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| Rare anaemia v1.0 | KIF23 | Zornitza Stark reviewed gene: KIF23: Rating: RED; Mode of pathogenicity: None; Publications: 23570799; Phenotypes: Congenital dyserythropoietic anaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.16 | GATA1 |
Zornitza Stark gene: GATA1 was added gene: GATA1 was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: GATA1 were set to 10700180 Phenotypes for gene: GATA1 were set to Anaemia, X-linked, with/without neutropaenia and/or platelet abnormalities, MIM#300835 Review for gene: GATA1 was set to GREEN gene: GATA1 was marked as current diagnostic Added comment: Can present with severe hydrops in utero requiring transfusion. Sources: Expert list |
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| Fetal hydrops v1.16 | EPHB4 |
Zornitza Stark gene: EPHB4 was added gene: EPHB4 was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Publications for gene: EPHB4 were set to 2990564; 27400125 Phenotypes for gene: EPHB4 were set to Lymphatic malformation 7, MIM#617300 Review for gene: EPHB4 was set to GREEN gene: EPHB4 was marked as current diagnostic Added comment: Three unrelated families reported, hydrops fetalis is a key feature of this condition. Sources: Expert list |
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| Fetal hydrops v1.16 | DOK7 |
Zornitza Stark gene: DOK7 was added gene: DOK7 was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOK7 were set to 31880392; 19261599 Phenotypes for gene: DOK7 were set to Fetal akinesia sequence, MIM#618389 Review for gene: DOK7 was set to AMBER gene: DOK7 was marked as current diagnostic Added comment: Two unrelated families reported with fetal akinesia deformation sequence, hydrops is a feature. The gene also causes a less severe phenotype (congenital myasthenic syndrome 10), hydrops is not a feature of this. Sources: Expert list |
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| Fetal hydrops v1.16 | DHCR7 | Zornitza Stark reviewed gene: DHCR7: Rating: GREEN; Mode of pathogenicity: None; Publications: 14735596, 10215064, 9856557; Phenotypes: Smith-Lemli-Opitz syndrome, MIM#270400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.16 | COL2A1 |
Zornitza Stark gene: COL2A1 was added gene: COL2A1 was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL2A1 were set to Achondrogenesis, type II or hypochondrogenesis, MIM#200610 Review for gene: COL2A1 was set to GREEN gene: COL2A1 was marked as current diagnostic Added comment: Hydrops is a presenting feature of this skeletal dysplasia. Sources: Expert list |
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| Fetal hydrops v1.16 | CHRNG |
Zornitza Stark gene: CHRNG was added gene: CHRNG was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRNG were set to Multiple pterygium syndrome, lethal type, MIM#253290 Review for gene: CHRNG was set to GREEN gene: CHRNG was marked as current diagnostic Added comment: Typically presents with cystic hygroma/hydrops fetalis. Sources: Expert list |
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| Fetal hydrops v1.16 | CHRND |
Zornitza Stark gene: CHRND was added gene: CHRND was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: CHRND was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRND were set to Multiple pterygium syndrome, lethal type, MIM#253290 Review for gene: CHRND was set to GREEN gene: CHRND was marked as current diagnostic Added comment: Typically presents with cystic hygroma/hydrops fetalis. Sources: Expert list |
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| Fetal hydrops v1.16 | CHRNA1 |
Zornitza Stark gene: CHRNA1 was added gene: CHRNA1 was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: CHRNA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRNA1 were set to Multiple pterygium syndrome, lethal type, MIM#253290 Review for gene: CHRNA1 was set to GREEN gene: CHRNA1 was marked as current diagnostic Added comment: Typically presents with cystic hygroma/hydrops. Sources: Expert list |
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| Fetal hydrops v1.16 | CDAN1 |
Zornitza Stark gene: CDAN1 was added gene: CDAN1 was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: CDAN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDAN1 were set to 30786798; 29668551; 29599085 Phenotypes for gene: CDAN1 were set to Dyserythropoietic anaemia, congenital, type Ia, MIM#224120 Review for gene: CDAN1 was set to GREEN gene: CDAN1 was marked as current diagnostic Added comment: Can present with fetal hydrops. Sources: Expert list |
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| Fetal hydrops v1.16 | ATP1A2 |
Zornitza Stark gene: ATP1A2 was added gene: ATP1A2 was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: ATP1A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP1A2 were set to 30690204 Phenotypes for gene: ATP1A2 were set to hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations gene: ATP1A2 was marked as current diagnostic Added comment: Three individuals from two unrelated families reported with bi-allelic LoF variants in this gene and hydrops/congenital abnormalities. Mouse model is perinatal lethal. Please note this is a distinct phenotype from the mono-allelic variants associated with alternating hemiplegia. Sources: Expert list |
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| Fetal hydrops v1.16 | ALG9 |
Zornitza Stark gene: ALG9 was added gene: ALG9 was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG9 were set to 26453364; 31420886 Phenotypes for gene: ALG9 were set to Congenital disorder of glycosylation, type II, MIM#608776 Review for gene: ALG9 was set to GREEN Added comment: CDGs can present prenatally with hydrops fetalis; please note three patients reported in recent literature review. Sources: Expert list |
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| Fetal hydrops v1.16 | ALG8 |
Zornitza Stark gene: ALG8 was added gene: ALG8 was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG8 were set to 26066342; 31420886 Phenotypes for gene: ALG8 were set to Congenital disorder of glycosylation, type Ih, MIM#608104 Review for gene: ALG8 was set to GREEN Added comment: CDGs can present prenatally with non-immune hydrops fetalis. Please note these two reviews: one of ALG8-CDG, reporting hydrops in 3/15 patients; and the other reporting hydrops in a range of CDGs. Sources: Expert list |
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| Fetal hydrops v1.16 | ALG1 | Zornitza Stark reviewed gene: ALG1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31420886; Phenotypes: Congenital disorder of glycosylation, type Ik, MIM#608540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.16 | AHCY | Zornitza Stark reviewed gene: AHCY: Rating: AMBER; Mode of pathogenicity: None; Publications: 30121674; Phenotypes: S-adenosylhomocysteine hydrolase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | DLL1 |
Konstantinos Varvagiannis gene: DLL1 was added gene: DLL1 was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: DLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DLL1 were set to 31353024 Phenotypes for gene: DLL1 were set to Global developmental delay; Intellectual disability; Morphological abnormality of the central nervous system; Seizures; Behavioral abnormality; Autism; Scoliosis Penetrance for gene: DLL1 were set to unknown Review for gene: DLL1 was set to AMBER Added comment: Gene added to the ID panel. Epilepsy has been reported in 6 unrelated individuals. Please consider inclusion with amber/green rating. ---- Heterozygous DLL1 pathogenic variants cause Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures (# 618709). Fischer-Zirnsak et al (2019 - PMID: 31353024) reported on 15 affected individuals from 12 unrelated families. Most common features included DD/ID (12/14), ASD (6/14 - belonging to 6 families) or other behavioral abnormalities, seizures (6/14 - from 6 unrelated families) and various brain MRI abnromalities. As commented by OMIM (based on the same ref) "Cognitive function ranges from severely impaired to the ability to attend schools with special assistance". Among other features, scoliosis was observed in 4. The authors could not identify a distinctive facial gestalt. Variable initial investigations (where discussed/performed - also suggesting relevance to the current panel) included CMA, FMR1, FLNA, mitochondrial DNA analysis and metabolic work-up but had not revealed an alternative cause. The DLL1 variants were identified by WES (with the exception of a 122-kb microdeletion spanning DLL1 and FAM120B detected by CMA). Nonsense, frame-shift, splice-site variants in positions predicted to result to NMD were identified in most. One individual was found to harbor a missense variant (NM_005618.3:c.536G>T / p.Cys179Phe) and another the aforementioned microdeletion. The variant in several individuals had occurred as a de novo event. In 2 families, it was inherited from an also affected parent (an unaffected sib was non-carrier) while in 3 families parental studies were not possible/complete. In frame insertion of 4 residues was demonstrated for a splice site variant, from LCLs of the corresponding individual. For another individual, material was unavailable for mRNA studies. The missense variant affected a cysteine (of the DSL domain) conserved in all Notch ligands while AA changes affecting the same position of JAG1 (another Notch ligand) have been described in patients with Alagille s. Based on the variants identified and reports of deletions spanning DLL1 in the literature, haploinsufficiency is the proposed underlying mechanism. The gene has also a pLI of 1 and %HI of 4.65. DLL1 encodes the Delta-like canonical Notch ligand 1. Notch signaling is an established pathway for brain morphogenesis. Previous in vivo and in vitro studies have demonstrated the role of DLL1 in CNS. The gene is highly expressed in neuronal precursor cells during embryogenesis. Expression of Dll1 (and other molecules of the Notch signalling pathway) in an oscillatory/sustained pattern and cell-cell interactions important for this pathway have been demonstrated to play a role in neuronal differentiation. [Most discussed by Fischer-Zirnsak et al with several refs provided / also Gray et al., 1999 - PMID: 10079256 & OMIM]. Animal models as summarized by the authors: [Mouse] Loss of Dll1 in mice has been shown to increase neuronal differentiation, cause CNS hyperplasia and increased number of neurons (PMIDs cited: 9109488, 12397111, 20081190). Reduced Dll1 expression was associated with scoliosis and mild vertebral defects (cited PMIDs: 19562077, 14960495, 22484060 / among others Dll1 haploinsufficiency and dominant negative models studied). Scoliosis and vertebral segmentation defects were features in 4 and 1 individual, respectively in the cohort of 15. [Zebrafish] Homozygous mutations in dlA, the zebrafish ortholog, disrupted the Delta-Notch signaling and led to patterning defects in the hindbrain and overproduction of neurons (cited: 15366005). Sources: Literature |
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| Intellectual disability v3.0 | DLL1 |
Konstantinos Varvagiannis gene: DLL1 was added gene: DLL1 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: DLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DLL1 were set to 31353024 Phenotypes for gene: DLL1 were set to Global developmental delay; Intellectual disability; Morphological abnormality of the central nervous system; Seizures; Behavioral abnormality; Autism; Scoliosis Penetrance for gene: DLL1 were set to unknown Review for gene: DLL1 was set to GREEN Added comment: Heterozygous DLL1 pathogenic variants cause Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures (# 618709). Fischer-Zirnsak et al (2019 - PMID: 31353024) reported on 15 affected individuals from 12 unrelated families. Most common features included DD/ID (12/14), ASD (6/14 - belonging to 6 families) or other behavioral abnormalities, seizures (6/14 - from 6 unrelated families) and various brain MRI abnromalities. As commented by OMIM (based on the same ref) "Cognitive function ranges from severely impaired to the ability to attend schools with special assistance". Among other features, scoliosis was observed in 4. The authors could not identify a distinctive facial gestalt. Variable initial investigations (where discussed/performed - also suggesting relevance to the current panel) included CMA, FMR1, FLNA, mitochondrial DNA analysis and metabolic work-up but had not revealed an alternative cause. The DLL1 variants were identified by WES (with the exception of a 122-kb microdeletion spanning DLL1 and FAM120B detected by CMA). Nonsense, frame-shift, splice-site variants in positions predicted to result to NMD were identified in most. One individual was found to harbor a missense variant (NM_005618.3:c.536G>T / p.Cys179Phe) and another the aforementioned microdeletion. The variant in several individuals had occurred as a de novo event. In 2 families, it was inherited from an also affected parent (an unaffected sib was non-carrier) while in 3 families parental studies were not possible/complete. In frame insertion of 4 residues was demonstrated for a splice site variant, from LCLs of the corresponding individual. For another individual, material was unavailable for mRNA studies. The missense variant affected a cysteine (of the DSL domain) conserved in all Notch ligands while AA changes affecting the same position of JAG1 (another Notch ligand) have been described in patients with Alagille s. Based on the variants identified and reports of deletions spanning DLL1 in the literature, haploinsufficiency is the proposed underlying mechanism. The gene has also a pLI of 1 and %HI of 4.65. DLL1 encodes the Delta-like canonical Notch ligand 1. Notch signaling is an established pathway for brain morphogenesis. Previous in vivo and in vitro studies have demonstrated the role of DLL1 in CNS. The gene is highly expressed in neuronal precursor cells during embryogenesis. Expression of Dll1 (and other molecules of the Notch signalling pathway) in an oscillatory/sustained pattern and cell-cell interactions important for this pathway have been demonstrated to play a role in neuronal differentiation. [Most discussed by Fischer-Zirnsak et al with several refs provided / also Gray et al., 1999 - PMID: 10079256 & OMIM]. Animal models as summarized by the authors: [Mouse] Loss of Dll1 in mice has been shown to increase neuronal differentiation, cause CNS hyperplasia and increased number of neurons (PMIDs cited: 9109488, 12397111, 20081190). Reduced Dll1 expression was associated with scoliosis and mild vertebral defects (cited PMIDs: 19562077, 14960495, 22484060 / among others Dll1 haploinsufficiency and dominant negative models studied). Scoliosis and vertebral segmentation defects were features in 4 and 1 individual, respectively in the cohort of 15. [Zebrafish] Homozygous mutations in dlA, the zebrafish ortholog, disrupted the Delta-Notch signaling and led to patterning defects in the hindbrain and overproduction of neurons (cited: 15366005). Please consider inclusion in other possibly relevant panels e.g. for ASD. Sources: Literature |
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| Early onset or syndromic epilepsy v2.0 | TFE3 | Konstantinos Varvagiannis reviewed gene: TFE3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30595499, 31833172, https://doi.org/10.1126/scisignal.aax0926; Phenotypes: Global developmental delay, Intellectual disability, Abnormality of skin pigmentation, Coarse facial features, Seizures; Mode of inheritance: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | TFE3 | Konstantinos Varvagiannis reviewed gene: TFE3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30595499, 31833172, https://doi.org/10.1126/scisignal.aax0926; Phenotypes: Global developmental delay, Intellectual disability, Abnormality of skin pigmentation, Coarse facial features, Seizures; Mode of inheritance: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | TUBGCP6 | Ivone Leong reviewed gene: TUBGCP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | TUBGCP4 | Ivone Leong reviewed gene: TUBGCP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | TTPA | Ivone Leong reviewed gene: TTPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | TRNT1 | Ivone Leong reviewed gene: TRNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | TREX1 | Ivone Leong reviewed gene: TREX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | SPP2 | Ivone Leong reviewed gene: SPP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | SLC25A46 | Ivone Leong reviewed gene: SLC25A46: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | SAMD11 | Ivone Leong reviewed gene: SAMD11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | RTN4IP1 | Ivone Leong reviewed gene: RTN4IP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | RDH11 | Ivone Leong reviewed gene: RDH11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | PRDM13 | Ivone Leong reviewed gene: PRDM13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | POMGNT1 | Ivone Leong reviewed gene: POMGNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | POC5 | Ivone Leong reviewed gene: POC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | PNPLA6 | Ivone Leong reviewed gene: PNPLA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | PLK4 | Ivone Leong reviewed gene: PLK4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | PGK1 | Ivone Leong reviewed gene: PGK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | PAX2 | Ivone Leong reviewed gene: PAX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | OPN1SW | Ivone Leong reviewed gene: OPN1SW: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | NEUROD1 | Ivone Leong reviewed gene: NEUROD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | NBAS | Ivone Leong reviewed gene: NBAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | MT-TS2 | Ivone Leong reviewed gene: MT-TS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | MT-TP | Ivone Leong reviewed gene: MT-TP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | MT-TH | Ivone Leong reviewed gene: MT-TH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | MIR204 | Ivone Leong reviewed gene: MIR204: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | MAPKAPK3 | Ivone Leong reviewed gene: MAPKAPK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | LAMA1 | Ivone Leong reviewed gene: LAMA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | JAG1 | Ivone Leong reviewed gene: JAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | IFT81 | Ivone Leong reviewed gene: IFT81: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | IFT27 | Ivone Leong reviewed gene: IFT27: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | IFT172 | Ivone Leong reviewed gene: IFT172: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | GNB3 | Ivone Leong reviewed gene: GNB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | EXOSC2 | Ivone Leong reviewed gene: EXOSC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | ESPN | Ivone Leong reviewed gene: ESPN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | ELOVL1 | Ivone Leong reviewed gene: ELOVL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | DRAM2 | Ivone Leong reviewed gene: DRAM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | DMD | Ivone Leong reviewed gene: DMD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | CTNNA1 | Ivone Leong reviewed gene: CTNNA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | CLUAP1 | Ivone Leong reviewed gene: CLUAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | CLCC1 | Ivone Leong reviewed gene: CLCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | CEP250 | Ivone Leong reviewed gene: CEP250: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | CEP19 | Ivone Leong reviewed gene: CEP19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | CCT2 | Ivone Leong reviewed gene: CCT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | C12orf65 | Ivone Leong reviewed gene: C12orf65: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | ATXN7 | Ivone Leong reviewed gene: ATXN7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | ASRGL1 | Ivone Leong reviewed gene: ASRGL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | ARSG | Ivone Leong reviewed gene: ARSG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | ARL3 | Ivone Leong reviewed gene: ARL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | AHR | Ivone Leong reviewed gene: AHR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | AFG3L2 | Ivone Leong reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | ADIPOR1 | Ivone Leong reviewed gene: ADIPOR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | ABCC6 | Ivone Leong reviewed gene: ABCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.4 | REEP6 | Ivone Leong Classified gene: REEP6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.4 | REEP6 | Ivone Leong Gene: reep6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.3 | TUBGCP6 |
Ivone Leong gene: TUBGCP6 was added gene: TUBGCP6 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: TUBGCP6 was set to |
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| Retinal disorders v2.3 | TUBGCP4 |
Ivone Leong gene: TUBGCP4 was added gene: TUBGCP4 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: TUBGCP4 was set to |
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| Retinal disorders v2.3 | TTPA |
Ivone Leong gene: TTPA was added gene: TTPA was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: TTPA was set to |
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| Retinal disorders v2.3 | TRNT1 |
Ivone Leong gene: TRNT1 was added gene: TRNT1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: TRNT1 was set to |
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| Retinal disorders v2.3 | TREX1 |
Ivone Leong gene: TREX1 was added gene: TREX1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: TREX1 was set to |
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| Retinal disorders v2.3 | SPP2 |
Ivone Leong gene: SPP2 was added gene: SPP2 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: SPP2 was set to |
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| Retinal disorders v2.3 | SLC25A46 |
Ivone Leong gene: SLC25A46 was added gene: SLC25A46 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: SLC25A46 was set to |
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| Retinal disorders v2.3 | SAMD11 |
Ivone Leong gene: SAMD11 was added gene: SAMD11 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: SAMD11 was set to |
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| Retinal disorders v2.3 | RTN4IP1 |
Ivone Leong gene: RTN4IP1 was added gene: RTN4IP1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: RTN4IP1 was set to |
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| Retinal disorders v2.3 | REEP6 |
Ivone Leong Source Expert Review Amber was added to REEP6. Source RetNet was added to REEP6. Source NHS GMS was added to REEP6. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Retinal disorders v2.3 | RDH11 |
Ivone Leong gene: RDH11 was added gene: RDH11 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: RDH11 was set to |
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| Retinal disorders v2.3 | PRDM13 |
Ivone Leong gene: PRDM13 was added gene: PRDM13 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: PRDM13 was set to |
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| Retinal disorders v2.3 | POMGNT1 |
Ivone Leong gene: POMGNT1 was added gene: POMGNT1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: POMGNT1 was set to |
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| Retinal disorders v2.3 | POC5 |
Ivone Leong gene: POC5 was added gene: POC5 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: POC5 was set to |
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| Retinal disorders v2.3 | PNPLA6 |
Ivone Leong gene: PNPLA6 was added gene: PNPLA6 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: PNPLA6 was set to |
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| Retinal disorders v2.3 | PLK4 |
Ivone Leong gene: PLK4 was added gene: PLK4 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: PLK4 was set to |
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| Retinal disorders v2.3 | PGK1 |
Ivone Leong gene: PGK1 was added gene: PGK1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: PGK1 was set to |
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| Retinal disorders v2.3 | PAX2 |
Ivone Leong gene: PAX2 was added gene: PAX2 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: PAX2 was set to |
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| Retinal disorders v2.3 | OPN1SW |
Ivone Leong gene: OPN1SW was added gene: OPN1SW was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: OPN1SW was set to |
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| Retinal disorders v2.3 | NEUROD1 |
Ivone Leong gene: NEUROD1 was added gene: NEUROD1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: NEUROD1 was set to |
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| Retinal disorders v2.3 | NBAS |
Ivone Leong gene: NBAS was added gene: NBAS was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: NBAS was set to |
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| Retinal disorders v2.3 | MT-TS2 |
Ivone Leong gene: MT-TS2 was added gene: MT-TS2 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene gene: MT-TS2 was set to MITOCHONDRIAL |
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| Retinal disorders v2.3 | MT-TP |
Ivone Leong gene: MT-TP was added gene: MT-TP was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene gene: MT-TP was set to MITOCHONDRIAL |
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| Retinal disorders v2.3 | MT-TH |
Ivone Leong gene: MT-TH was added gene: MT-TH was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene gene: MT-TH was set to MITOCHONDRIAL |
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| Retinal disorders v2.3 | MIR204 |
Ivone Leong gene: MIR204 was added gene: MIR204 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: MIR204 was set to |
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| Retinal disorders v2.3 | MAPKAPK3 |
Ivone Leong gene: MAPKAPK3 was added gene: MAPKAPK3 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: MAPKAPK3 was set to |
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| Retinal disorders v2.3 | LAMA1 |
Ivone Leong gene: LAMA1 was added gene: LAMA1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: LAMA1 was set to |
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| Retinal disorders v2.3 | JAG1 |
Ivone Leong gene: JAG1 was added gene: JAG1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: JAG1 was set to |
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| Retinal disorders v2.3 | IFT81 |
Ivone Leong gene: IFT81 was added gene: IFT81 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: IFT81 was set to |
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| Retinal disorders v2.3 | IFT27 |
Ivone Leong gene: IFT27 was added gene: IFT27 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: IFT27 was set to |
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| Retinal disorders v2.3 | IFT172 |
Ivone Leong gene: IFT172 was added gene: IFT172 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: IFT172 was set to |
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| Retinal disorders v2.3 | GNB3 |
Ivone Leong gene: GNB3 was added gene: GNB3 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: GNB3 was set to |
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| Retinal disorders v2.3 | EXOSC2 |
Ivone Leong gene: EXOSC2 was added gene: EXOSC2 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: EXOSC2 was set to |
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| Retinal disorders v2.3 | ESPN |
Ivone Leong gene: ESPN was added gene: ESPN was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: ESPN was set to |
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| Retinal disorders v2.3 | ELOVL1 |
Ivone Leong gene: ELOVL1 was added gene: ELOVL1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: ELOVL1 was set to |
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| Retinal disorders v2.3 | DRAM2 |
Ivone Leong gene: DRAM2 was added gene: DRAM2 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: DRAM2 was set to |
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| Retinal disorders v2.3 | DMD |
Ivone Leong gene: DMD was added gene: DMD was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: DMD was set to |
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| Retinal disorders v2.3 | CTNNA1 |
Ivone Leong gene: CTNNA1 was added gene: CTNNA1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: CTNNA1 was set to |
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| Retinal disorders v2.3 | CLUAP1 |
Ivone Leong gene: CLUAP1 was added gene: CLUAP1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: CLUAP1 was set to |
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| Retinal disorders v2.3 | CLCC1 |
Ivone Leong gene: CLCC1 was added gene: CLCC1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: CLCC1 was set to |
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| Retinal disorders v2.3 | CEP250 |
Ivone Leong gene: CEP250 was added gene: CEP250 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: CEP250 was set to |
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| Retinal disorders v2.3 | CEP19 |
Ivone Leong gene: CEP19 was added gene: CEP19 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: CEP19 was set to |
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| Retinal disorders v2.3 | CCT2 |
Ivone Leong gene: CCT2 was added gene: CCT2 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: CCT2 was set to |
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| Retinal disorders v2.3 | C12orf65 |
Ivone Leong gene: C12orf65 was added gene: C12orf65 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: C12orf65 was set to |
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| Retinal disorders v2.3 | ATXN7 |
Ivone Leong gene: ATXN7 was added gene: ATXN7 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: ATXN7 was set to |
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| Retinal disorders v2.3 | ASRGL1 |
Ivone Leong gene: ASRGL1 was added gene: ASRGL1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: ASRGL1 was set to |
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| Retinal disorders v2.3 | ARSG |
Ivone Leong gene: ARSG was added gene: ARSG was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: ARSG was set to |
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| Retinal disorders v2.3 | ARL3 |
Ivone Leong gene: ARL3 was added gene: ARL3 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: ARL3 was set to |
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| Retinal disorders v2.3 | AHR |
Ivone Leong gene: AHR was added gene: AHR was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: AHR was set to |
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| Retinal disorders v2.3 | AFG3L2 |
Ivone Leong gene: AFG3L2 was added gene: AFG3L2 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: AFG3L2 was set to |
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| Retinal disorders v2.3 | ADIPOR1 |
Ivone Leong gene: ADIPOR1 was added gene: ADIPOR1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: ADIPOR1 was set to |
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| Retinal disorders v2.3 | ABCC6 |
Ivone Leong gene: ABCC6 was added gene: ABCC6 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: ABCC6 was set to |
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| Intellectual disability v3.0 | MN1 |
Konstantinos Varvagiannis gene: MN1 was added gene: MN1 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: MN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MN1 were set to 31834374; 31839203; 15870292 Phenotypes for gene: MN1 were set to Central hypotonia; Feeding difficulties; Global developmental delay; Intellectual disability; Hearing impairment; Abnormality of facial skeleton; Craniosynostosis; Abnormality of the face; Abnormality of the cerebellum; Abnormality of the corpus callosum; Polymicrogyria Penetrance for gene: MN1 were set to Complete Review for gene: MN1 was set to GREEN Added comment: Two studies by Mak et al (2019 - PMID: 31834374 / Ref1) and Miyake et al (2019 - PMID: 31839203 / Ref2) provide sufficient evidence for heterozygous MN1 C-terminal truncating variants (predicted to escape NMD - localizing within the last nucleotides of exon 1 or in exon 2) being associated with a distinctive phenotype and DD and ID among the features. Mak et al also discuss on the phenotype of individuals with variants causing N-terminal truncation or with MN1 deletions (discussed at the end of this review). Overlapping features for C-terminal truncating variants included hypotonia, feeding difficulties, global DD and ID, hearing loss, cranial shape defects (/craniosynostosis in few), highly suggestive/distinctive facial features (eg. frontal bossing, hypertelorism, downslanting palpebral-fissures, shallow orbits, short upturned nose, low-set/posteriorly rotated/dysplastic ears, etc) and brain MRI abnormalities (eg. rhomboencephalosynapsis or cerebellar dysplasia, polymicrogyria, dysplastic CC). The majority of the affected individuals were investigated by WES/WGS with a single one tested by targeted MN1 Sanger sequencing due to highly suggestive features. Variable previous investigations incl. CMA in several, gene panel testing (Rasopathies, hearing loss, craniofacial panels, FMR1, etc) and metabolic work were normal in most. In a single case a likely pathogenic ACSL4 also explained part of the phenotype (Ref2). In the majority of these individuals, the variant had occured as a de novo event. Two sibs had inherited the truncating variant from a milder affected mosaic parent. A parental sample was not available for an additional individual. p.(Arg1295*) or NM_002430.2:c.3883C>T was a recurrent variant, seen in several individuals and in both studies. Several lines of evidence are provided for the MN1 variants and the role of the gene including: - For few individuals for whom cell lines were available, variants were shown to escape NMD by cDNA/RT-PCR/RNA-seq [Ref1 & 2]. - The gene has a high expression in fetal brain [Ref2 / fig S2] - MN1 (* 156100 - MN1 protooncogene, transcriptional regulator) has been proposed to play a role in cell proliferation and shown to act as transcription cofactor (increasing its transactivation capacity in synergy with coactivators EP300 and RAC3) [Discussion and Refs provided in Ref2]. - In vitro studies suggested increased protein stability (upon transfection of wt/mut constructs in HEK293T cells), enhanced MN1 aggregation in nuclei (when wt/mut GFP-tagged MN1 was expressed in HeLa cells), increased inhibitory effect on cell growth (MG63 cells - role of MN1 in cell proliferation discussed above) and retained transactivation activity (upon transient MN1 overexpression of wt/mt MN1 in HEK293T cells) for the variants. These seem to support a gain-of-function effect for the C-terminal truncating variants [Ref2]. - The truncating variants are proposed to raise the fraction of Intrinsically disordered regions (IDRs = regions without fixed tertiary structure) probably contributing to the above effects [Ref2]. - Expression of FLAG-tagged MN1 wt/mut MN1 followed by immunoprecipitation and mass spectrometry analysis (mCAT-Hela cells), provided evidence that MN1 is involved in transcriptional regulation: a. through binding ZBTB24 and RING1 E3 ubiquitin ligase (with mutant MN1 displaying impaired interaction with ZBTB24 and no binding to RING1) and/or b. through interaction with DNA-binding transcription factors PBX1 and PKNOX1. Proper MN1 degradation is proposed to mediate precise transcriptional regulation. [Ref2] - Transcriptome analysis in LCLs from an affected individual suggested dysregulation of genes relevant to neuronal development (eg. LAMP, ITGA, etc) and GO analysis suggested enrichment for pathways possibly linked to the observed phenotypes [Ref2]. - Discussed in both Refs1/2, homozygous Mn1-ko mice display abnormal skull bone development and die at/shortly after birth as a result of cleft palate. Heterozygous Mn1-ko mice display hypoplastic membranous bones of the cranial skeleton and cleft palate (CP), the latter with incomplete penetrance [Meester-Smoor et al 2005 - PMID: 15870292]. This is thus compatible with the cranial shape defects observed in C-terminal truncations (while CP has been reported in gene deletions, bifid uvula was reported once in C-terminal and N-terminal truncating variants, in the latter case with submucous CP). ----- The phenotype of other MN1 variants is discussed by Mak et al (Ref1) : - 3 individuals with MN1 N-terminal truncating variants (eg. Ser179*, Pro365Thrfs*120, Ser472*) presented speech delay, mild conductive hearing loss and facial features different from C-terminal truncations. None of these individuals had significant ID. - Microdeletions: One individual (#27) with 130 kb deletion harboring only MN1, presented microcephaly, DD and ID and mildly dysmorphic facial features. Deletions spanning MN1 and other genes (eg a 1.17 Mb deletion in ind. #28) and relevant cases from the literature reviewed, with mild DD/ID, variable palatal defects and/or facial dysmorphisms (distinct from the C-terminal truncating variants) among the frequent findings. [Please consider inclusion in other possibly relevant gene panels eg. for hearing loss (conductive/sensorineural in 16/20 reported by Mak et al) or craniosynostosis, etc]. Sources: Literature |
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| Intellectual disability v3.0 | CXorf56 |
Konstantinos Varvagiannis gene: CXorf56 was added gene: CXorf56 was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: CXorf56 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: CXorf56 were set to 29374277; 31822863 Phenotypes for gene: CXorf56 were set to ?Mental retardation, X-linked 107, 301013 Penetrance for gene: CXorf56 were set to unknown Review for gene: CXorf56 was set to AMBER Added comment: Verkerk et al (2018 - PMID: 29374277) reported on a three-generation family with five males and one female presenting mild non-syndromic ID. Segregation was compatible with X-linked inheritance. Multipoint linkage analysis with XL microsatellite markers demonstrated a linkage peak at Xq23-24 with LOD score of 3.3. Haplotype analysis and utilization of additional STR markers allowed narrowing to a region of 7.6 Mb containing 92 genes. WGS in 3 affected males (spanning 3 generations) and 1 unaffected male and application of relevant filters for rare protein affecting variants within this region - present only in affected but absent in the unaffected individual - suggested a CXorf56 frameshift variant in exon 2 [NM_022101.3:c.159_160insTA / p.(Asp54*)] as the only relevant for this phenotype. Sanger sequencing was performed for 25 family members with all 5 affected males and 1 affected female harboring this insertion and 8 unaffected females (also) shown to be carriers. X-chromosome inactivation studies demonstrated that unaffected females had skewed inactivation (76-93%) of the variant allele, while the single affected female did not have a skewed XCI pattern (54%). In EBV-transformed lymphoblasts grown with/without cycloheximide, mRNA levels were shown to be significantly lower in the affected female compared to unaffected ones (and corrected upon treatment with cycloheximide). mRNA levels were also significantly lower in cell lines from an affected male, with expression showing significant increase after treatment with cycloheximide. These results confirmed that nonsense-mediated decay applies. The variant was absent from ExAC (where CXorf56 has a pLI of 0.93) and 188 healthy Dutch individuals. The function of CXorf56 is not known. The gene appears to be expressed in brain and a (broad) range of other tissues [ https://gtexportal.org/home/gene/CXORF56 ]. Immunostaining in 8-week old murine brain, showed that the protein is present in the nucleus and cell soma of most neurons in brain cortex and cerebellum. Upon transfection of human CXorf56 cDNA in mouse primary hippocampal neurons, the protein localized in the nucleus, dendrites (co-localizing with Map2) and dendritic spines. As the authors note, the latter may suggest a role in synaptic function. Overexpression in HEK293T cells demonstrated predominantly nuclear localization. Mouse : Based on MGI (and an article by Cox et al. - PMID: 20548051 / both cited by the authors) male chimeras hemizygous for a gene trapped allele have abnormal midbrain-hindbrain boundary morphology, decreased forebrain size, while a subset hemizygous for a different gene trapped allele show growth delay [ http://www.informatics.jax.org/marker/MGI:1924894 ]. ----- Rocha et al (2019 - PMID: 31822863) report on 9 affected individuals with mild to severe ID belonging to 3 unrelated families. Additional features in this cohort - observed in some - included abnormal reflexes, fine tremor, seizures (in 3), abnormal gait, etc. In the 1st family, 3 males presented with (severe/severe/moderate) ID and 2 females with mild ID. Following a normal CMA and FMR1 testing, trio plus exome sequencing revealed a CXorf56 in-frame deletion [NM_022101.3:c.498_503del / p.(Glu167_Glu168del)]. Sanger sequencing in 9 members, confirmed presence of the variant in one unaffected mother, all her affected sons (2) and daughers(2) and an affected grandson and absence in 2 remaining unaffected daughters. Skewing of XCI was seen in blood cells from affected females (97 and 83%) while the unaffected mother had complete inactivation of the carrier X-chromosome. The authors commented that even minor reductions in CXorf56 (suggested by XCI in affected females) may be detrimental and/or that inactivation for this gene may be different than that of AR gene (which was studied instead) or in other tissues. In family 2, an affected mother (with learning difficulties) and her 2 sons - the most severely affected presenting moderate ID - harbored a frameshift variant [c.303_304delCTinsACCC / p.(Phe101Leufs*20)]. A male with ID belonging to a 3rd family, for which no further information was available, was found to harbor the c.498_503del variant (also discussed above) as a de novo event. It has been commented that individuals with Xq24 deletions spanning CXorf56 present with ID, although (all) such deletions reported in the literature also span the neighboring UBE2A gene, associated with Mental retardation, X-linked syndromic, Nascimento-type (MIM #300860). ----- In OMIM, the CXorf56-related phenotype is ?Mental retardation, X-linked 107 (# 301013), based only on the report by Verkerk et al. This gene is included in gene panels for ID offered by some diagnostic laboratories (incl. Radboudumc). ----- Overall, CXorf56 can be considered for inclusion in the ID panel either with amber (function of the gene unknown, skewed XCI also in affected females in the 2nd reference) or with green rating (several individuals from 4 families, compatible segregation studies and females presenting a milder phenotype than males or unaffected, LOD score in the 1st report, studies confirming lower mRNA levels and NMD, gene expressed in human brain, expression in mouse brain cortex and cerebellum, evidence from transfection studies in mouse hippocampal neurons). [Note : penetrance was here set to unknown / It was complete for males, incomplete for females]. Sources: Literature, Radboud University Medical Center, Nijmegen |
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| Skeletal dysplasia v2.0 | SCUBE3 |
Zerin Hyder gene: SCUBE3 was added gene: SCUBE3 was added to Skeletal dysplasia. Sources: Other Mode of inheritance for gene: SCUBE3 was set to BIALLELIC, autosomal or pseudoautosomal Penetrance for gene: SCUBE3 were set to unknown |
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| Intellectual disability v3.0 | UGP2 |
Konstantinos Varvagiannis gene: UGP2 was added gene: UGP2 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: UGP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UGP2 were set to 31820119 Phenotypes for gene: UGP2 were set to Seizures; Global developmental delay; Intellectual disability; Feeding difficulties; Abnormality of vision; Abnormality of the face Penetrance for gene: UGP2 were set to Complete Review for gene: UGP2 was set to GREEN Added comment: Perenthaler et al. (2019 - PMID: 31820119) provide evidence that homozygosity for a variant abolishing the start codon of the UGP2 transcript (NM_001001521.1) encoding the predominant (short) protein isoform in brain, leads to a severe epileptic encephalopathy. This variant (chr2:64083454A>G / NM_001001521.1:c.1A>G - p.?) is also predicted to result in a substitution of a methionine at position 12 by a valine of the longer UGP2 transcript (NM_006759.3:c.34A>G - p.Met12Val). The 2 isoforms differ only by 11 amino acids at the N-terminal and are otherwise expected to be functionally equivalent. The authors provide details on 22 individuals from 15 families (some of which consanguineous). Features included intractable seizures (in all), absence of developmental milestones (in all), progressive microcephaly, visual impairment. The authors reported also presence of somewhat similar facial features. Some of these individuals passed away early. Previous work-up in several of them (incl. SNP-array, gene panel testing and metabolic investigations) had not revealed any abnormality, apart from ROH in some individuals. In all cases, the homozygous UGP2 SNV was the only P/LP variant for the neurodevelopmental phenotype following exome/genome sequencing. Segregation studies in affected/unaffected family members were compatible. Families came from the Netherlands (but mostly from) India, Pakistan and Iran. Presence of a region of homozygosity shared between individuals from different families suggested that the variant might represent a mutation that originated several generations ago (in the area of Balochistan). The variant is present 15x in gnomAD, only in heterozygous state (in Asian mostly, reported once in Ashkenazi Jewish or Europeans) [ https://gnomad.broadinstitute.org/variant/2-64083454-A-G ]. UGP2 encodes UDP-glucose pyrophosphorylase which is an essential enzyme in sugar metabolism, catalyzing conversion of glucose-1-phosphate to UDP-glucose. UDP-glucose, in turn, serves as precursor for production of glycogen by glycogen synthase. The authors provide several lines of evidence for a the role of the gene in the CNS as well as for the deleterious effect of the specific variant : - In patient fibroblasts total UGP2 levels were not signifficantly different compared to parent / control fibroblasts, the longer isoform being upregulated (and stable) when the shorter is missing. Immunocytochemistry demonstrated similar localization of UGP2 in the case of mutant or wt cells. Enzymatic activity (/capacity to produce UDP-glucose) was similar between homozygous mut, heterozygous and wt fibroblasts. - In H9-derived neural stem cells, Western Blot, RT-PCR and qRT-PCR suggested that the short isoform is the predominant one. (In embryonic stem cells, or fibroblasts the ratio between short and long isoform was lower). - Analysis of RNA-seq data from human fetal tissues suggested that the short isoform is the predominant in brain. - UGP2 was detected upon immunohistochemistry in fetal brain tissues from first to third trimester of pregnancy while Western Blot confirmed preferential expression of the shorter isoform. - Homozygous embryonic (ESC) or neural stem cells (NSC) for the variant (knock-in/KI) or for a frameshift variant (knock-out/KO) were generated. Study of NSCs demonstrated reduced total UGP2 protein expression upon Western Blot in the case of KI cells and depleted in KO ones. Transcriptome analysis did not show major transcriptome alterations in KI/KO ESCs compared to wt. In NSC KI/KO cells transcriptome alterations were observed compared to wt with upregulation among others of genes for synaptic processes and genes implicated in epilepsy. - The absence of UGP2 was shown to result in reduced ability of KO/KI NSCs to produce UDP-glucose, reduced capacity to synthesize glycogen under hypoxia (rescued in the case of KO cells by overexpression of wt or long isoform), defects of protein glycosylation as well as in increased unfolded protein response (/susceptibility to ER stress). These alterations are commented to be possibly implicated in pathogenesis of epilepsy, progressive microcephaly, etc. - A CRISPR-Cas9 zebrafish model leading with loss of ugp2a and hypomorphic ugp2b (the zebrafish homologs of UGP2) demonstrated abnormal behavior, reduced eye movements and increased frequency/duration of movements upon stimulation with a potent convulsant (suggestive of increased seizure susceptibility). - UGP knockout in drosophila is lethal while flies compound heterozygous for hypomorphic alleles are viable but show a movement defects due to altered synaptogenesis secondary to glycosylation defects (cited PMID: 27466186). - The authors make speculations as for the occurrence of a single variant (and not others) eg. absence of UGP2 (in the case of LoF variants affecting both isoforms) would possibly be incompatible with life, Met12Val being tolerable for the long transcript not affecting stability/enzymatic activity (which may not be the case for other substitutions affecting Met12), etc. Sources: Literature |
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| Early onset or syndromic epilepsy v2.0 | UGP2 |
Konstantinos Varvagiannis gene: UGP2 was added gene: UGP2 was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: UGP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UGP2 were set to 31820119 Phenotypes for gene: UGP2 were set to Seizures; Global developmental delay; Intellectual disability; Feeding difficulties; Abnormality of vision; Abnormality of the face Penetrance for gene: UGP2 were set to Complete Review for gene: UGP2 was set to GREEN Added comment: Perenthaler et al. (2019 - PMID: 31820119) provide evidence that homozygosity for a variant abolishing the start codon of the UGP2 transcript (NM_001001521.1) encoding the predominant (short) protein isoform in brain, leads to a severe epileptic encephalopathy. This variant (chr2:64083454A>G / NM_001001521.1:c.1A>G - p.?) is also predicted to result in a substitution of a methionine at position 12 by a valine of the longer UGP2 transcript (NM_006759.3:c.34A>G - p.Met12Val). The 2 isoforms differ only by 11 amino acids at the N-terminal and are otherwise expected to be functionally equivalent. The authors provide details on 22 individuals from 15 families (some of which consanguineous). Features included intractable seizures (in all), absence of developmental milestones (in all), progressive microcephaly, visual impairment. The authors reported also presence of somewhat similar facial features. Some of these individuals passed away early. Previous work-up in several of them (incl. SNP-array, gene panel testing and metabolic investigations) had not revealed any abnormality, apart from ROH in some individuals. In all cases, the homozygous UGP2 SNV was the only P/LP variant for the neurodevelopmental phenotype following exome/genome sequencing. Segregation studies in affected/unaffected family members were compatible. Families came from the Netherlands (but mostly from) India, Pakistan and Iran. Presence of a region of homozygosity shared between individuals from different families suggested that the variant might represent a mutation that originated several generations ago (in the area of Balochistan). The variant is present 15x in gnomAD, only in heterozygous state (in Asian mostly, reported once in Ashkenazi Jewish or Europeans) [ https://gnomad.broadinstitute.org/variant/2-64083454-A-G ]. UGP2 encodes UDP-glucose pyrophosphorylase which is an essential enzyme in sugar metabolism, catalyzing conversion of glucose-1-phosphate to UDP-glucose. UDP-glucose, in turn, serves as precursor for production of glycogen by glycogen synthase. The authors provide several lines of evidence for a the role of the gene in the CNS as well as for the deleterious effect of the specific variant : - In patient fibroblasts total UGP2 levels were not signifficantly different compared to parent / control fibroblasts, the longer isoform being upregulated (and stable) when the shorter is missing. Immunocytochemistry demonstrated similar localization of UGP2 in the case of mutant or wt cells. Enzymatic activity (/capacity to produce UDP-glucose) was similar between homozygous mut, heterozygous and wt fibroblasts. - In H9-derived neural stem cells, Western Blot, RT-PCR and qRT-PCR suggested that the short isoform is the predominant one. (In embryonic stem cells, or fibroblasts the ratio between short and long isoform was lower). - Analysis of RNA-seq data from human fetal tissues suggested that the short isoform is the predominant in brain. - UGP2 was detected upon immunohistochemistry in fetal brain tissues from first to third trimester of pregnancy while Western Blot confirmed preferential expression of the shorter isoform. - Homozygous embryonic (ESC) or neural stem cells (NSC) for the variant (knock-in/KI) or for a frameshift variant (knock-out/KO) were generated. Study of NSCs demonstrated reduced total UGP2 protein expression upon Western Blot in the case of KI cells and depleted in KO ones. Transcriptome analysis did not show major transcriptome alterations in KI/KO ESCs compared to wt. In NSC KI/KO cells transcriptome alterations were observed compared to wt with upregulation among others of genes for synaptic processes and genes implicated in epilepsy. - The absence of UGP2 was shown to result in reduced ability of KO/KI NSCs to produce UDP-glucose, reduced capacity to synthesize glycogen under hypoxia (rescued in the case of KO cells by overexpression of wt or long isoform), defects of protein glycosylation as well as in increased unfolded protein response (/susceptibility to ER stress). These alterations are commented to be possibly implicated in pathogenesis of epilepsy, progressive microcephaly, etc. - A CRISPR-Cas9 zebrafish model leading with loss of ugp2a and hypomorphic ugp2b (the zebrafish homologs of UGP2) demonstrated abnormal behavior, reduced eye movements and increased frequency/duration of movements upon stimulation with a potent convulsant (suggestive of increased seizure susceptibility). - UGP knockout in drosophila is lethal while flies compound heterozygous for hypomorphic alleles are viable but show a movement defects due to altered synaptogenesis secondary to glycosylation defects (cited PMID: 27466186). - The authors make speculations as for the occurrence of a single variant (and not others) eg. absence of UGP2 (in the case of LoF variants affecting both isoforms) would possibly be incompatible with life, Met12Val being tolerable for the long transcript not affecting stability/enzymatic activity (which may not be the case for other substitutions affecting Met12), etc. Sources: Literature |
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| Likely inborn error of metabolism v2.1 | PCYT2 |
Sarah Leigh edited their review of gene: PCYT2: Added comment: Vaz et al. (2019 - PMID: 31637422 - DDD study among the co-authors) report on 5 individuals - from 4 families - with biallelic PCYT2 mutations. The phenotype corresponded to a complex hererditary paraplegia with global DD, regression (4/5), ID (mild in 3/5, severe in 2/5), spastic para-/tetraparesis, epilepsy (5/5 - variable onset 2-16 yrs - focal or tonic-clonic seizures) and progressive cerebral and cerebellar atrophy. Exome sequencing in all revealed biallelic PCYT2 variants, confirmed with Sanger s. in probands and their parents (NM_001184917.2 - corresponding to the canonical transcript used as Ref below): - P1 (Fam1) : 2 missense SNVs in trans configuration, c.730C>T or p.His244Tyr and c.920C>T or p.Pro307Leu - P2 (Fam2 - consanguineous of White British origin), P3 (Fam3 - Consanguineous of Turkish origin), P4,5 (Fam4 - consanguineous, unspecified origin) : homozygosity for c.1129C>T or p.Arg377Ter) affecting the last exon of 8/12 transcripts, including the canonical one. Individuals with the same genotype displayed variable degrees of ID (eg P3 - severe / P2, P4,5 - mild ID). For sibs in Fam4, homozygosity for a missense SACS variant led to consideration of the respective disorder (AR spastic ataxia of Charlevoix-Saguenay) though the variant was predicted to be tolerated in silico and notably the MRI images not suggestive. All variants were absent from / had extremely low AF in public databases, with no homozygotes. Posphatidylethanolamine (PE) is a membrane lipid, particularly enriched in human brain (45% of phospholypid fraction). PE is synthesized either via the CDP-ethanolamine pathway or by decarboxylation of phosphatidylserine in mitochondria. PCYT2 encodes CTP:phosophoethanolamine cytidyltransferase (ET) which is an ubiquitously expressed rate-limiting enzyme for PE biosynthesis in the former pathway. In silico, the 2 missense variants - localizing in the CTP catalytic domain 2 - were predicted to be damaging, as well as to affect protein stability. Fibroblasts of 3 patients (P1, P2, P3) representing all variants were studied: - Enzymatic activity was shown to be significantly reduced (though not absent) compared to controls. Abnormalities were noted upon Western Blot incl. absence in all 3 patients studied of one of the 2 bands normally found in controls (probably representing the longer isoform), reduced intensity in all 3 of another band probably corresponding to a shorter isoform, and presence of an additional band of intermediate molec. mass in patients with the truncating variant. - RT-PCR on mRNA from patient fibroblasts did not reveal (significant) reduction compared to controls. - Lipidomic profile of patient fibroblasts was compatible with the location of the block in the phospholipid biosynthesis pathway and different from controls. The lipidomic profile had similarities with what has been reported for EPT1 deficiency, the enzyme directly downstream of ET. The SELENO1-related phenotype (/EPT1 deficiency) is also highly overlapping. CRISPR-Cas9 was used to generate pcyt2 partial or complete knockout (ko) zebrafish, targeting either the final (ex13) or another exon (ex3) respectively. mRNA expression was shown to be moderately reduced in the first case and severely reduced/absent in the second, compared to wt. Similarly, complete-ko (ex3) led to significantly lower survival, with impaired though somewhat better survival of partial-ko (ex13) zebrafish. Complete knockout of Pcyt2 in mice is embryonically lethal (PMID cited: 17325045) while heterozygous mice develop features of metabolic syndrome (PMID cited: 22764088). Given lethality in knockout zebrafish / mice and the residual activity (15-20%) in patient fibroblasts, the variants reported were thought to be hypomorphic and complete loss of function possibly incompatible with life. PCYT2 is not associated with any phenotype in OMIM/G2P/SysID and not commonly included in gene panels for ID. As a result this gene could included in the ID / epilepsy panels with green (~/>3 indiv/fam/variants with the nonsense found in different populations, consistent phenotype, lipidomics, in silico/in vitro/in vivo evidence) or amber rating. [Please consider inclusion in other possibly relevant panels eg. for metabolic disorders, etc]. Sources: Literature Konstantinos Varvagiannis (Other), 11 Nov 2019; Changed rating: GREEN |
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| Likely inborn error of metabolism v2.1 | PCYT2 |
Sarah Leigh gene: PCYT2 was added gene: PCYT2 was added to Inborn errors of metabolism. Sources: Literature Mode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCYT2 were set to 31637422; 17325045; 22764088 Phenotypes for gene: PCYT2 were set to Global developmental delay; Developmental regression; Intellectual disability; Spastic paraparesis; Seizures; Spastic tetraparesis; Cerebral atrophy; Cerebellar atrophy Review for gene: PCYT2 was set to RED Added comment: This gene was added by an external reviewer and rated Green on Hereditary spastic paraplegia gene panel (Version 1.210), and confirmed with Zerin Hyder (Genomics England Clinical Team) that this is appropriate to be Green on the Inborn errors of metabolism panel. The rating of this gene will be changed when the next reiteration of this panel is made. Sources: Literature |
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| Hereditary ataxia, adult onset v2.0 | ADPRHL2 | Louise Daugherty Tag new-gene-name tag was added to gene: ADPRHL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v2.0 | ADPRHL2 | Louise Daugherty commented on gene: ADPRHL2: Added new-gene-name tag, new approved HGNC gene symbol for ADPRHL2 is ADPRS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | ADPRHL2 | Louise Daugherty Tag new-gene-name tag was added to gene: ADPRHL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | ADPRHL2 | Louise Daugherty commented on gene: ADPRHL2: Added new-gene-name tag, new approved HGNC gene symbol for ADPRHL2 is ADPRS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | ADPRHL2 | Louise Daugherty Tag new-gene-name tag was added to gene: ADPRHL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | ADPRHL2 | Louise Daugherty commented on gene: ADPRHL2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.0 | ADPRHL2 | Louise Daugherty Tag new-gene-name tag was added to gene: ADPRHL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.0 | ADPRHL2 | Louise Daugherty commented on gene: ADPRHL2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratodermas v1.0 | LOR | Louise Daugherty Tag new-gene-name tag was added to gene: LOR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratodermas v1.0 | LOR | Louise Daugherty commented on gene: LOR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v1.0 | LOR | Louise Daugherty Tag new-gene-name tag was added to gene: LOR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v1.0 | LOR | Louise Daugherty commented on gene: LOR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v1.0 | ICK | Louise Daugherty Tag new-gene-name tag was added to gene: ICK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v1.0 | ICK | Louise Daugherty commented on gene: ICK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.0 | WARS | Louise Daugherty Tag new-gene-name tag was added to gene: WARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.0 | WARS | Louise Daugherty commented on gene: WARS: Added new-gene-name tag, new approved HGNC gene symbol for WARS is WARS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v1.0 | MUT | Louise Daugherty Tag new-gene-name tag was added to gene: MUT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.0 | MUT | Louise Daugherty Tag new-gene-name tag was added to gene: MUT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.0 | MUT | Louise Daugherty commented on gene: MUT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.0 | HARS | Louise Daugherty Tag new-gene-name tag was added to gene: HARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v1.0 | GARS | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v1.0 | GARS | Louise Daugherty Tag new-gene-name tag was added to gene: GARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v1.0 | GARS | Louise Daugherty commented on gene: GARS: Added new-gene-name tag, new approved HGNC gene symbol for GARS is GARS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.0 | GARS | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.0 | GARS | Louise Daugherty Tag new-gene-name tag was added to gene: GARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.0 | GARS | Louise Daugherty commented on gene: GARS: Added new-gene-name tag, new approved HGNC gene symbol for GARS is GARS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.3 | GARS | Louise Daugherty Tag new-gene-name tag was added to gene: GARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.0 | FAM46A | Louise Daugherty commented on gene: FAM46A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.0 | FAM46A | Louise Daugherty Tag new-gene-name tag was added to gene: FAM46A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.0 | C5orf42 | Louise Daugherty Tag new-gene-name tag was added to gene: C5orf42. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v1.0 | C5orf42 | Louise Daugherty Tag new-gene-name tag was added to gene: C5orf42. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ophthalmological ciliopathies v1.0 | C5orf42 | Louise Daugherty Tag new-gene-name tag was added to gene: C5orf42. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v1.0 | C5orf42 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v1.0 | C5orf42 | Louise Daugherty Tag new-gene-name tag was added to gene: C5orf42. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v1.0 | C5orf42 | Louise Daugherty commented on gene: C5orf42: Added new-gene-name tag, new approved HGNC gene symbol for C5orf42 is CPLANE1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v1.0 | C21orf2 | Louise Daugherty Tag new-gene-name tag was added to gene: C21orf2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v1.0 | C21orf2 | Louise Daugherty Tag new-gene-name tag was added to gene: C21orf2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ophthalmological ciliopathies v1.0 | C21orf2 | Louise Daugherty Tag new-gene-name tag was added to gene: C21orf2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ophthalmological ciliopathies v1.0 | C21orf2 | Louise Daugherty commented on gene: C21orf2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v2.0 | C19orf70 | Louise Daugherty commented on gene: C19orf70 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v2.0 | C19orf70 | Louise Daugherty Tag new-gene-name tag was added to gene: C19orf70. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.3 | ATP5L2 | Louise Daugherty commented on gene: ATP5L2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.3 | ATP5L2 | Louise Daugherty Tag new-gene-name tag was added to gene: ATP5L2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.3 | ATP5L | Louise Daugherty commented on gene: ATP5L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.3 | ATP5L | Louise Daugherty Tag new-gene-name tag was added to gene: ATP5L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.3 | ATP5J2 | Louise Daugherty commented on gene: ATP5J2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.3 | ATP5J2 | Louise Daugherty Tag new-gene-name tag was added to gene: ATP5J2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.3 | ATP5H | Louise Daugherty commented on gene: ATP5H | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.3 | ATP5H | Louise Daugherty Tag new-gene-name tag was added to gene: ATP5H. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.3 | ATP5F1 | Louise Daugherty commented on gene: ATP5F1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.3 | ATP5F1 | Louise Daugherty Tag new-gene-name tag was added to gene: ATP5F1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v2.0 | ATP5D | Louise Daugherty Tag new-gene-name tag was added to gene: ATP5D. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.0 | ATP5D | Louise Daugherty Tag new-gene-name tag was added to gene: ATP5D. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.0 | AARS | Louise Daugherty Tag new-gene-name tag was added to gene: AARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.0 | AARS | Louise Daugherty commented on gene: AARS: Added new-gene-name tag, new approved HGNC gene symbol for AARS is AARS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.0 | SEPT9 | Louise Daugherty commented on gene: SEPT9: Added new-gene-name tag, new approved HGNC gene symbol for SEPT9 is SEPTIN9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.0 | SEPT9 | Louise Daugherty Tag new-gene-name tag was added to gene: SEPT9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.0 | TMEM199 | Sarah Leigh edited their review of gene: TMEM199: Added comment: Should be promoted from Red to Green, due to feedback from the GMS Metabolic Specialist disease test group: 4 patients from 3 unrelated families reported in the literature. All patients had a type 2 pattern on serum transferrin isoelectric focusing (IEF), indicating abnormal N-glycosylation, as well as abnormal IEF of ApoC-III, indicating abnormal O-glycosylation (PMID:26833330). Ellen McDonagh (Genomics England Curator), 4 Dec 2019.; Changed rating: GREEN; Changed publications: 26833330 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.0 | DPM2 | Sarah Leigh edited their review of gene: DPM2: Added comment: DPM2 should be rated as green due to the following: PMID 23109149 describes 3 children from 2 families with muscular dystrophy-dystroglycanopathy, plus good functional evidence this class of CDG can be associated with CMD - Arianna Tucci (Genomics England Clinical Fellow), Jan. 25, 2017, 4:41 p.m.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | KAT8 |
Konstantinos Varvagiannis gene: KAT8 was added gene: KAT8 was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: KAT8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: KAT8 were set to 31794431 Phenotypes for gene: KAT8 were set to Global developmental delay; Intellectual disability; Seizures; Abnormality of vision; Feeding difficulties; Abnormality of the cardiovascular system; Autism Penetrance for gene: KAT8 were set to unknown Review for gene: KAT8 was set to GREEN Added comment: Heterozygous pathogenic missense KAT8 variants have been reported in individuals with DD, ID and epilepsy. Variants occurred as de novo events within the chromobarrel or the acetyltransferase domain and were all shown to affect H4K16 acetylation, as would be predicted by the gene's function (lysine acetyltransferase). Evidence from brain specific Kat8 knockout in mouse, supports the role of the gene in brain development. One similarly affected individual compound heterozygous for a nonsense and a missense variant (the former affecting subnuclear localization and the latter H4K16ac) was also reported, with carrier relatives being unaffected. Mutations in genes of the MSL/NSL complexes (with which KAT8 forms multisubunit complexes) or genes in other acetyltransferases of the same subfamily (MYST) as KAT8 cause neurodevelopmental disorders [Details provided below]. ----- Li et al. (2019 - PMID: 31794431) report on 8 unrelated individuals with heterozygous de novo pathogenic KAT8 variants, as well as an additional one compound heterozygous for a nonsense and a missense one. Overlapping phenotype consisted of DD/ID (8/8), seizures/epilepsy (6/8), brain MRI anomalies as well as presence of variable facial dysmorphic features. Less frequent features included abnormal vision (5/8), feeding difficulties (3/8), cardiac anomalies (3/8), autism (in 1). The (9th) individual with biallelic variants had similar phenotype of DD/ID, epilepsy, autism and dysmorphic facial features. Heterozygous parents and sister, the latter carrier for the missense variant, were all unaffected. All individuals had undergone exome sequencing, while extensive other investigations for at least 7/9 had only revealed variants of uncertain significance/contribution to the phenotype or were normal. KAT8 encodes lysine acetyltransferase 8, which acetylates histone H4 at lysine 16 (H4K16). It belongs to the MYST subfamily of lysine acetyltransferases, the other members of which include KAT6A, KAT6B (both involved in neurodevelopmental disorders) and KAT5. KAT8 forms two stoichiometric multisubunitcomplexes, one with the MSL complex and the other with the NSL. Mutations in genes encoding for subunits of the NSL or MSL complex (eg. KANSL1 and MSL3) are associated with neurodevelopmental disorders. Overall 6 missense SNVs were reported among the heterozygous patients, p.Tyr90Cys (NM_032188.2:c.269A>G) being a recurrent one seen in 3. The compound heterozygous patient had a missense (c.973C>T / p.Arg325Cys) and a nonsense variant (c.523A>T / p.Lys175*). All missense variants lied either in the chromobarrel domain or the acetyltransferase domain. Variants in the latter domain localized within the KAT8/Mof-specific region or - in the case of the compound heterozygous individual - within the acetyl-CoA binding motif. FLAG-tagged KAT8 (either wt or for all missense SNVs) was transfected in HEK293 cells with vectors for HA-tagged MSL proteins. While the nonsense variant was difficult to express, missense SNVs were expressed to similar levels to wt, promoted expression of MSL proteins but resulted in defective H4K16 acetylation and to a lesser extent H4K5 acetylation. As a result all missense variants impaired acetylation. This was also the case for chromobarrel domain variants, while expression of a KAT8 lacking the chromobarrel domain confirmed its ability to form complex with the MSL proteins and the impairment of H4K16 acetylation. The nonsense variant demonstrated abnormal subnuclear localization. The mouse model provides extensive evidence for the involvement of KAT8 in cerebral development. Cerebrum-specific Kat8 knockout mice presented postnatal growth retardation, hyperactivity/irritability, pre-weaning lethality, and cerebral hypoplasia upon autopsy. Loss of Kat8 reduced the number of neural stem and progenitor cells available for embryonic cerebrocortical development, impaired cell proliferation and stimulated apoptosis. The article also provides additional evidence from mouse model. Sources: Literature |
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| Intellectual disability v3.0 | KAT8 |
Konstantinos Varvagiannis gene: KAT8 was added gene: KAT8 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: KAT8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: KAT8 were set to 31794431 Phenotypes for gene: KAT8 were set to Global developmental delay; Intellectual disability; Seizures; Abnormality of vision; Feeding difficulties; Abnormality of the cardiovascular system; Autism Penetrance for gene: KAT8 were set to unknown Review for gene: KAT8 was set to GREEN Added comment: Heterozygous pathogenic missense KAT8 variants have been reported in individuals with DD, ID and epilepsy. Variants occurred as de novo events within the chromobarrel or the acetyltransferase domain and were all shown to affect H4K16 acetylation, as would be predicted by the gene's function (lysine acetyltransferase). Evidence from brain specific Kat8 knockout in mouse, supports the role of the gene in brain development. One similarly affected individual compound heterozygous for a nonsense and a missense variant (the former affecting subnuclear localization and the latter H4K16ac) was also reported, with carrier relatives being unaffected. Mutations in genes of the MSL/NSL complexes (with which KAT8 forms multisubunit complexes) or genes in other acetyltransferases of the same subfamily (MYST) as KAT8 cause neurodevelopmental disorders [Details provided below]. ----- Li et al. (2019 - PMID: 31794431) report on 8 unrelated individuals with heterozygous de novo pathogenic KAT8 variants, as well as an additional one compound heterozygous for a nonsense and a missense one. Overlapping phenotype consisted of DD/ID (8/8), seizures/epilepsy (6/8), brain MRI anomalies as well as presence of variable facial dysmorphic features. Less frequent features included abnormal vision (5/8), feeding difficulties (3/8), cardiac anomalies (3/8), autism (in 1). The (9th) individual with biallelic variants had similar phenotype of DD/ID, epilepsy, autism and dysmorphic facial features. Heterozygous parents and sister, the latter carrier for the missense variant, were all unaffected. All individuals had undergone exome sequencing, while extensive other investigations for at least 7/9 had only revealed variants of uncertain significance/contribution to the phenotype or were normal. KAT8 encodes lysine acetyltransferase 8, which acetylates histone H4 at lysine 16 (H4K16). It belongs to the MYST subfamily of lysine acetyltransferases, the other members of which include KAT6A, KAT6B (both involved in neurodevelopmental disorders) and KAT5. KAT8 forms two stoichiometric multisubunitcomplexes, one with the MSL complex and the other with the NSL. Mutations in genes encoding for subunits of the NSL or MSL complex (eg. KANSL1 and MSL3) are associated with neurodevelopmental disorders. Overall 6 missense SNVs were reported among the heterozygous patients, p.Tyr90Cys (NM_032188.2:c.269A>G) being a recurrent one seen in 3. The compound heterozygous patient had a missense (c.973C>T / p.Arg325Cys) and a nonsense variant (c.523A>T / p.Lys175*). All missense variants lied either in the chromobarrel domain or the acetyltransferase domain. Variants in the latter domain localized within the KAT8/Mof-specific region or - in the case of the compound heterozygous individual - within the acetyl-CoA binding motif. FLAG-tagged KAT8 (either wt or for all missense SNVs) was transfected in HEK293 cells with vectors for HA-tagged MSL proteins. While the nonsense variant was difficult to express, missense SNVs were expressed to similar levels to wt, promoted expression of MSL proteins but resulted in defective H4K16 acetylation and to a lesser extent H4K5 acetylation. As a result all missense variants impaired acetylation. This was also the case for chromobarrel domain variants, while expression of a KAT8 lacking the chromobarrel domain confirmed its ability to form complex with the MSL proteins and the impairment of H4K16 acetylation. The nonsense variant demonstrated abnormal subnuclear localization. The mouse model provides extensive evidence for the involvement of KAT8 in cerebral development. Cerebrum-specific Kat8 knockout mice presented postnatal growth retardation, hyperactivity/irritability, pre-weaning lethality, and cerebral hypoplasia upon autopsy. Loss of Kat8 reduced the number of neural stem and progenitor cells available for embryonic cerebrocortical development, impaired cell proliferation and stimulated apoptosis. The article also provides additional evidence from mouse model. Sources: Literature |
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| Early onset or syndromic epilepsy v2.0 | RARS |
Konstantinos Varvagiannis gene: RARS was added gene: RARS was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: RARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RARS were set to 31814314; 28905880; 24777941 Phenotypes for gene: RARS were set to Leukodystrophy, hypomyelinating, 9 616140 Penetrance for gene: RARS were set to Complete Review for gene: RARS was set to GREEN Added comment: Biallelic pathogenic RARS1 variants cause Leukodystrophy, hypomyelinating, 9 (# 616140). The current review was based primarily on PMID: 31814314 (Mendes et al, 2019) providing details on 20 affected individuals from 15 families. 5 of these patients were included in a previous publication (Wolf et al, 2014 - PMID: 24777941) sharing authors with this study. Clinical presentation and severity can be highly variable. However, among the 15 patients of relevant age (5/20 deceased at an early age), ID was observed in 13 (in 6/13 mild-moderate, in 7/13 severe/profound). Epilepsy was reported in half (10/20) with seizures being refractory to treatment in most and the phenotype corresponding to an infantile epileptic encephalopathy. DD and seizures were the presenting feature in 7 and 5 patients respectively, while in other cases presenting features were less specific (eg. failure to thrive in 1/20, irritabilty in 2/20). As a result the gene appears to be relevant to both DD/ID and epilepsy panels. RARS1 encodes the cytoplasmic arginyl-tRNA synthetase 1, which is a component of the aminoacyl-tRNA synthetase complex (OMIM and Wolf et al, 2014 - PMID: 24777941). Aminoacyl-tRNA synthetases catalyze the aminoacylation ('charging') of tRNA by (with) their cognate amino acid. Utilisation of alternative initiation codons, from a single mRNA transcript, results in translation of a long and a short protein isoform (Zheng et al 2006 - PMID: 16430231). The long isoform is needed for the formation of the multi-synthetase complex (MSC), while the short is free in the cytoplasm and does not have any interaction with the MSC. The long isoform appears to be essential for protein synthesis (discussed with several refs provided in PMID: 28905880 - Nafisinia et al, 2017). The role of variants has been supported in several patients by additional studies - among others : [PMID 31814314] Impaired Arginyl-tRNA synthetase activity was demonstrated in fibroblasts from 3 patients. Activity was normal in one additional individual compound heterozygous for a variant affecting initiation codon and a missense one. Western blot however demonstrated presence mainly of the short protein isoform. The authors suggest that this isoform possibly contributed to enzymatic activity. The long isoform which is needed for the MSC complex was only represented by a faint band in the Western Blot of the same individual. [PMID: 28905880] Using fibroblasts from an affected subject homozygous for a missense variant (NM_002887.3:c.5A>G / p.Asp2Gly) and controls, a 75% reduction of the long isoform was shown upon WB. The short isoform was present at similar levels. As the N-terminus (of the long isoform) mediates interaction with the MSC (and AIMP1), assembly of the latter was 99% reduced in patient fibroblasts. Proliferation of patient fibroblasts was significantly reduced when cultured in a medium with limited arginine, a finding which was thought to reflect inefficient protein synthesis. Mutations in other genes encoding for aminoacyl-tRNA synthetases (eg. AARS1, VARS1) or scaffolding proteins of the multisynthetase complex (eg. AIMP1 and AIMP2) lead to neurodevelopmental disorders with overlapping phenotype [most genes rated green in both the ID and epilepsy panel]. Sources: Literature |
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| Intellectual disability v3.0 | RARS |
Konstantinos Varvagiannis gene: RARS was added gene: RARS was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: RARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RARS were set to 31814314; 28905880; 24777941 Phenotypes for gene: RARS were set to Cerebral hypomyelination; Global developmental delay; Intellectual disability; Seizures; Cerebral atrophy; Nystagmus; Ataxia; Feeding difficulties Penetrance for gene: RARS were set to Complete Review for gene: RARS was set to GREEN Added comment: Biallelic pathogenic RARS1 variants cause Leukodystrophy, hypomyelinating, 9 (# 616140). The current review was based primarily on PMID: 31814314 (Mendes et al, 2019) providing details on 20 affected individuals from 15 families. 5 of these patients were included in a previous publication (Wolf et al, 2014 - PMID: 24777941) sharing authors with this study. Clinical presentation and severity can be highly variable. However, among the 15 patients of relevant age (5/20 deceased at an early age), ID was observed in 13 (in 6/13 mild-moderate, in 7/13 severe/profound). Epilepsy was reported in half (10/20) with seizures being refractory to treatment in most and the phenotype corresponding to an infantile epileptic encephalopathy. DD and seizures were the presenting feature in 7 and 5 patients respectively, while in other cases presenting features were less specific (eg. failure to thrive in 1/20, irritabilty in 2/20). As a result the gene appears to be relevant to both DD/ID and epilepsy panels. RARS1 encodes the cytoplasmic arginyl-tRNA synthetase 1, which is a component of the aminoacyl-tRNA synthetase complex (OMIM and Wolf et al, 2014 - PMID: 24777941). Aminoacyl-tRNA synthetases catalyze the aminoacylation ('charging') of tRNA by (with) their cognate amino acid. Utilisation of alternative initiation codons, from a single mRNA transcript, results in translation of a long and a short protein isoform (Zheng et al 2006 - PMID: 16430231). The long isoform is needed for the formation of the multi-synthetase complex (MSC), while the short is free in the cytoplasm and does not have any interaction with the MSC. The long isoform appears to be essential for protein synthesis (discussed with several refs provided in PMID: 28905880 - Nafisinia et al, 2017). The role of variants has been supported in several patients by additional studies - among others : [PMID 31814314] Impaired Arginyl-tRNA synthetase activity was demonstrated in fibroblasts from 3 patients. Activity was normal in one additional individual compound heterozygous for a variant affecting initiation codon and a missense one. Western blot however demonstrated presence mainly of the short protein isoform. The authors suggest that this isoform possibly contributed to enzymatic activity. The long isoform which is needed for the MSC complex was only represented by a faint band in the Western Blot of the same individual. [PMID: 28905880] Using fibroblasts from an affected subject homozygous for a missense variant (NM_002887.3:c.5A>G / p.Asp2Gly) and controls, a 75% reduction of the long isoform was shown upon WB. The short isoform was present at similar levels. As the N-terminus (of the long isoform) mediates interaction with the MSC (and AIMP1), assembly of the latter was 99% reduced in patient fibroblasts. Proliferation of patient fibroblasts was significantly reduced when cultured in a medium with limited arginine, a finding which was thought to reflect inefficient protein synthesis. Mutations in other genes encoding for aminoacyl-tRNA synthetases (eg. AARS1, VARS1) or scaffolding proteins of the multisynthetase complex (eg. AIMP1 and AIMP2) lead to neurodevelopmental disorders with overlapping phenotype [most genes rated green in both the ID and epilepsy panel]. Sources: Literature |
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| CAKUT v1.41 | Ellen McDonagh Panel types changed to Rare Disease 100K | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.0 | Louise Daugherty promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.108 | Louise Daugherty Panel types changed to GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.107 | ABCA1 | Louise Daugherty changed review comment from: Comment on list classification: Changed from Amber to Green - is a very rare condition, the primary feature can be neuropathy so if abnormalities of lipids or tonsils are missed or not present the diagnosis will not be made. However if there is a second panel to go to after the primary neuropathy panel and it is on it then it should still be diagnosed as long as a patient with primary neuropathy only would still be eligible for the more syndromic panel.; to: Comment on list classification: Changed from Amber to Green - recommendation from Genomics England clinical ream - is a very rare condition, the primary feature can be neuropathy so if abnormalities of lipids or tonsils are missed or not present the diagnosis will not be made. However if there is a second panel to go to after the primary neuropathy panel and it is on it then it should still be diagnosed as long as a patient with primary neuropathy only would still be eligible for the more syndromic panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.107 | ABCA1 | Louise Daugherty Classified gene: ABCA1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.107 | ABCA1 | Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green - is a very rare condition, the primary feature can be neuropathy so if abnormalities of lipids or tonsils are missed or not present the diagnosis will not be made. However if there is a second panel to go to after the primary neuropathy panel and it is on it then it should still be diagnosed as long as a patient with primary neuropathy only would still be eligible for the more syndromic panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.107 | ABCA1 | Louise Daugherty Gene: abca1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.106 | VCP | Louise Daugherty Classified gene: VCP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.106 | VCP | Louise Daugherty Added comment: Comment on list classification: Downgraded from Green to Amber from recommendation from Alex Rossor - only two published cases of VCP and neuropathy. P.Glu185Lys is absent form GNOMAD but p.Glu185Asp is present 4 times. I don’t think there have been any more cases. Might it be better as Amber for neuropathy? | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.106 | VCP | Louise Daugherty Gene: vcp has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy Super panel v4.3 | Ellen McDonagh Panel types changed to GMS Rare Disease Virtual; Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v2.1 | Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy Super panel v4.2 | Ellen McDonagh Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders v1.123 | Ellen McDonagh Panel types changed to Rare Disease 100K | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy Super panel v4.1 | Ellen McDonagh Panel types changed to GMS Rare Disease Virtual; Super Panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary ovarian insufficiency v1.17 | Ellen McDonagh Panel types changed to Rare Disease 100K | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v5.9 | Louise Daugherty Panel types changed to GMS Rare Disease Virtual; Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sudden unexplained death or survivors of a cardiac event v9.11 | Ivone Leong Changed child panels to: Arrhythmogenic cardiomyopathy; Long QT syndrome; Hypertrophic cardiomyopathy - teen and adult; Short QT syndrome; Catecholaminergic polymorphic VT; Brugada syndrome; Dilated cardiomyopathy - adult and teen; Progressive cardiac conduction disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders v1.18 | Ellen McDonagh Panel types changed to Rare Disease 100K | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v2.1 | Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disorders v1.11 | Ellen McDonagh Panel types changed to Rare Disease 100K | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial pulmonary fibrosis v1.7 | Ellen McDonagh Panel types changed to Rare Disease 100K | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v1.2 | Ivone Leong Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial dysautonomia v1.8 | Ellen McDonagh Panel types changed to Rare Disease 100K | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v1.1 | Ivone Leong Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension v1.11 | Ellen McDonagh Panel types changed to Rare Disease 100K | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial cerebral small vessel disease v1.7 | Louise Daugherty Panel types changed to Rare Disease 100K | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v1.1 | Ivone Leong Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v2.1 | Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome and cardiac sodium channel disease v2.1 | Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic polymorphic VT v2.1 | Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Long QT syndrome v2.1 | Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic right ventricular cardiomyopathy v2.1 | Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - childhood onset v2.0 | PTRH2 | Ellen Thomas edited their review of gene: PTRH2: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - childhood onset v2.0 | PTRH2 |
Ellen Thomas gene: PTRH2 was added gene: PTRH2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Other Mode of inheritance for gene: PTRH2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTRH2 were set to 25574476; 28328138 Phenotypes for gene: PTRH2 were set to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease Added comment: Currently on adult ataxia panel; more suitable for childhood onset panel Sources: Other |
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| Paediatric disorders v14.2 | Rebecca Foulger Panel types changed to GMS Rare Disease Virtual; Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.0 | Eleanor Williams promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.343 | Eleanor Williams Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.342 | TTC8 | Eleanor Williams Classified gene: TTC8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.342 | TTC8 | Eleanor Williams Gene: ttc8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.341 | ALX1 | Eleanor Williams Classified gene: ALX1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.341 | ALX1 | Eleanor Williams Added comment: Comment on list classification: Rating green due to association with FRONTONASAL DYSPLASIA TYPE 3. Other Frontonasal dysplasia genes ALX3 and ALX4 have been included on this panel. Including on the panel following the advice of Prof Lyn Chitty. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.341 | ALX1 | Eleanor Williams Gene: alx1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.340 | ALX1 |
Eleanor Williams commented on gene: ALX1: This gene is provisionally associated with ?Frontonasal dysplasia 3 (#613456) in OMIM. Has a confirmed association with FRONTONASAL DYSPLASIA TYPE 3 in Gene2Phenotype. PMID: 20451171 - Uz et al. (2010) - 2 families presenting with autosomal-recessive frontonasal dysplasia (FND) characterized by bilateral extreme microphthalmia, bilateral oblique facial cleft, complete cleft palate, hypertelorism, wide nasal bridge with hypoplasia of the ala nasi, and low-set, posteriorly rotated ears in two distinct families. In one family they found a three siblings were affected, and CNV analysis of the critical region showed a homozygous 3.7 Mb deletion containing the ALX1 (CART1) gene. In the second family a homozygous donor-splice-site mutation (c.531+1G > A) in the ALX1 gene was found. PMID: 27324866 - Ullah et al 2017 - report a consanguineous family from Pakistan with four individuals presenting a milder form of Frontonasal dysplasia. Using exome sequencing, a homozygous splice acceptor site variant has been identified in the ALX1 gene. The affected individuals had ptosis (drooping upper eyelid), small and upslanting palpebral fissures, blepharophimosis, broad nasal root, wide prominent nasal bridge, short and wide nasal ridge, broad columella, smooth philtrum, and mouth protrusion accompanied by teeth protrusion NOTE: no clefting reported in the individuals from this family. PMID: 26610632 - Lyons et al 2015 - The “Contemporary” Burmese lineage of cats has a more brachycephalic head type. Offspring from “Contemporary” style mating produced a craniofacial defect in 25% of offspring (Noden and Evans, 1986; Sponenberg and Graf-Webster, 1986). The abnormality is characterized by agenesis of all derivatives of the medial nasal prominence; lateral duplication of most derivatives of the maxillary process; including the canine teeth and whiskers fields; telencephalic meningoencephalocele; and secondary ocular degeneration . The midline facial defect is autosomal recessive, however, carriers of the mutation are more brachycephalic individuals than wildtype, The entire ALX1 CDS sequence was analyzed in ten cats, including five affected Burmese and five controls. A 12 bp deletion (c.496delCTCTCAGGACTG) was identified in the coding region of ALX1. All the unaffected cats in the pedigree were confirmed to be homozygous wild-type or carrier of the 12 bp deletion while all the affected cats were homozygous for the identified variant. The average CDS homology between human and cat is 93.8% and the protein identity is 97.5%. |
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| Skeletal dysplasia v1.340 | WDPCP | Eleanor Williams Classified gene: WDPCP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.340 | WDPCP | Eleanor Williams Added comment: Comment on list classification: Making this gene green as it is green on the Limb disorders panel for polydactyly. Including on the advice of Prof Lyn Chitty. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.340 | WDPCP | Eleanor Williams Gene: wdpcp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.339 | WDPCP | Eleanor Williams Phenotypes for gene: WDPCP were changed from to ?Congenital heart defects, hamartomas of tongue, and polysyndactyly 217085; ?Bardet-Biedl syndrome 15, 615992 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.338 | WDPCP | Eleanor Williams Publications for gene: WDPCP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.337 | WDPCP | Eleanor Williams Mode of inheritance for gene: WDPCP was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.336 | TTC8 | Eleanor Williams Classified gene: TTC8 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.336 | TTC8 | Eleanor Williams Added comment: Comment on list classification: Making this gene green as it is green on the Limb disorders panel for polydactyly. Including on the advice of Prof Lyn Chitty. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.336 | TTC8 | Eleanor Williams Gene: ttc8 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.335 | TTC8 | Eleanor Williams Phenotypes for gene: TTC8 were changed from to Polydactyly; Bardet-Biedl syndrome 8, 615985 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.334 | TTC8 | Eleanor Williams Mode of inheritance for gene: TTC8 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.333 | TRIM32 | Eleanor Williams Classified gene: TRIM32 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.333 | TRIM32 | Eleanor Williams Added comment: Comment on list classification: Keeping this gene red as it is is red on the GMS Bardet Biedl syndrome panel (v1.0). Also associated with Muscular dystrophy, limb-girdle, autosomal recessive 8 but no skeletal phenotype is present in this disorder. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.333 | TRIM32 | Eleanor Williams Gene: trim32 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.332 | TRIM32 | Eleanor Williams Phenotypes for gene: TRIM32 were changed from to Bardet-Biedl syndrome 11, 615988; Polydactyly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.331 | SDCCAG8 | Eleanor Williams Classified gene: SDCCAG8 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.331 | SDCCAG8 | Eleanor Williams Added comment: Comment on list classification: This gene is a Bardet-Biedl syndrome gene but polydactyly is not part of the phenotype - see clinical features listed in OMIM https://omim.org/entry/615993. Therefore keeping this gene red on the skeletal dysplasia panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.331 | SDCCAG8 | Eleanor Williams Gene: sdccag8 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.330 | SDCCAG8 | Eleanor Williams Phenotypes for gene: SDCCAG8 were changed from Senior-Loken syndrome 7, 613615; Bardet-Biedl syndrome 16, 615993 to Bardet-Biedl syndrome 16, 615993 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.329 | SDCCAG8 | Eleanor Williams Phenotypes for gene: SDCCAG8 were changed from to Senior-Loken syndrome 7, 613615; Bardet-Biedl syndrome 16, 615993 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.328 | SDCCAG8 | Eleanor Williams Mode of inheritance for gene: SDCCAG8 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.327 | MKKS | Eleanor Williams Classified gene: MKKS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.327 | MKKS | Eleanor Williams Added comment: Comment on list classification: Making this gene green as it is green on the Limb disorders panel for polydactyly. Including on the advice of Prof Lyn Chitty. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.327 | MKKS | Eleanor Williams Gene: mkks has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.326 | MKKS | Eleanor Williams Phenotypes for gene: MKKS were changed from to Polydactyly; Bardet-Biedl syndrome 6, 605231; McKusick-Kaufman syndrome, 236700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.325 | MKKS | Eleanor Williams Mode of inheritance for gene: MKKS was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.324 | CCDC28B | Eleanor Williams Classified gene: CCDC28B as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.324 | CCDC28B | Eleanor Williams Added comment: Comment on list classification: Keeping this gene on the panel as red as it is red on the GMS Bardet Biedl syndrome panel (v1.0). Modifier gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.324 | CCDC28B | Eleanor Williams Gene: ccdc28b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.323 | CCDC28B | Eleanor Williams Mode of inheritance for gene: CCDC28B was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.322 | CCDC28B | Eleanor Williams Publications for gene: CCDC28B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.321 | CCDC28B | Eleanor Williams Phenotypes for gene: CCDC28B were changed from to {Bardet-Biedl syndrome 1, modifier of}, 209900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.320 | BBS9 | Eleanor Williams Classified gene: BBS9 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.320 | BBS9 | Eleanor Williams Added comment: Comment on list classification: Making this gene green as it is green on the Limb disorders panel for polydactyly. Including on the advice of Prof Lyn Chitty. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.320 | BBS9 | Eleanor Williams Gene: bbs9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.319 | BBS9 | Eleanor Williams Phenotypes for gene: BBS9 were changed from to Polydactyly; Bardet Biedl syndrome 9, 615986 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.318 | BBS9 | Eleanor Williams Mode of inheritance for gene: BBS9 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.317 | BBS7 | Eleanor Williams Classified gene: BBS7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.317 | BBS7 | Eleanor Williams Gene: bbs7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.316 | BBS7 | Eleanor Williams Classified gene: BBS7 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.316 | BBS7 | Eleanor Williams Added comment: Comment on list classification: Making this gene green as is is green on the Limb disorders panel for polydactyly. Including on the advice of Prof Lyn Chitty. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.316 | BBS7 | Eleanor Williams Gene: bbs7 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.315 | BBS7 | Eleanor Williams Phenotypes for gene: BBS7 were changed from to Polydactyly; Bardet-Biedl syndrome 7, 615984 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.314 | BBS7 | Eleanor Williams Mode of inheritance for gene: BBS7 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.313 | BBS5 | Eleanor Williams Classified gene: BBS5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.313 | BBS5 | Eleanor Williams Added comment: Comment on list classification: Making this gene green as is is green on the Limb disorders panel for polydactyly. Including on the advice of Prof Lyn Chitty. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.313 | BBS5 | Eleanor Williams Gene: bbs5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.312 | BBS5 | Eleanor Williams Phenotypes for gene: BBS5 were changed from to Polydactyly; Bardet Biedl syndrome 5, 615983 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.311 | BBS5 | Eleanor Williams Mode of inheritance for gene: BBS5 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.310 | BBS4 | Eleanor Williams Classified gene: BBS4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.310 | BBS4 | Eleanor Williams Added comment: Comment on list classification: Making this gene green as is is green on the Limb disorders panel for polydactyly. Including on the advice of Prof Lyn Chitty. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.310 | BBS4 | Eleanor Williams Gene: bbs4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.309 | BBS4 | Eleanor Williams Phenotypes for gene: BBS4 were changed from to Polydactyly; Bardet-Biedl syndrome 4, 615982 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.308 | BBS4 | Eleanor Williams Mode of inheritance for gene: BBS4 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.307 | BBS2 | Eleanor Williams Classified gene: BBS2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.307 | BBS2 | Eleanor Williams Added comment: Comment on list classification: Making this gene green as is is green on the Limb disorders panel for polydactyly. Including on the advice of Prof Lyn Chitty. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.307 | BBS2 | Eleanor Williams Gene: bbs2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.306 | BBS2 | Eleanor Williams Phenotypes for gene: BBS2 were changed from to Polydactyly; Bardet-Biedl syndrome 2, 615981 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.305 | BBS2 | Eleanor Williams Mode of inheritance for gene: BBS2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.304 | BBS12 | Eleanor Williams Classified gene: BBS12 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.304 | BBS12 | Eleanor Williams Added comment: Comment on list classification: Making this gene green as is is green on the Limb disorders panel for polydactyly. Including on the advice of Prof Lyn Chitty. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.304 | BBS12 | Eleanor Williams Gene: bbs12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.303 | BBS12 | Eleanor Williams Phenotypes for gene: BBS12 were changed from to Polydactyly; Bardet Biedl syndrome 12, 615989 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.302 | BBS12 | Eleanor Williams Mode of inheritance for gene: BBS12 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.301 | BBS10 | Eleanor Williams Classified gene: BBS10 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.301 | BBS10 | Eleanor Williams Added comment: Comment on list classification: Making this gene green as is is green on the Limb disorders panel for polydactyly. Including on the advice of Prof Lyn Chitty. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.301 | BBS10 | Eleanor Williams Gene: bbs10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.300 | BBS10 | Eleanor Williams Phenotypes for gene: BBS10 were changed from to Polydactyly; Bardet Biedl syndrome 10, 615987 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.299 | BBS10 | Eleanor Williams Mode of inheritance for gene: BBS10 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.298 | BBS1 | Eleanor Williams Classified gene: BBS1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.298 | BBS1 | Eleanor Williams Added comment: Comment on list classification: Making this gene green as is is green on the Limb disorders panel for polydactyly. Including on the advice of Prof Lyn Chitty. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.298 | BBS1 | Eleanor Williams Gene: bbs1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.297 | BBS1 | Eleanor Williams Phenotypes for gene: BBS1 were changed from to Polydactyly; Bardet-Biedl syndrome 1 209900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.297 | BBS1 | Eleanor Williams Publications for gene: BBS1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.296 | BBS1 | Eleanor Williams Mode of inheritance for gene: BBS1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v1.1 | Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autosomal recessive primary hypertrophic osteoarthropathy v1.1 | Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v1.3 | Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratodermas v1.0 | Catherine Snow promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratodermas v0.11 |
Catherine Snow List of related panels changed from to R166 Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off |
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| Mosaic skin disorders - Deep sequencing v1.0 | Catherine Snow promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - Deep sequencing v0.24 |
Catherine Snow List of related panels changed from to R327 Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off |
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| Multiple monogenic benign skin tumours v1.0 | Ellen McDonagh promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple monogenic benign skin tumours v0.16 | Ellen McDonagh Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.0 | Louise Daugherty promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple monogenic benign skin tumours v0.15 |
Ellen McDonagh List of related panels changed from to R230 Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel |
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| Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v1.9 |
Louise Daugherty List of related panels changed from Cockayne and Xeroderma Pigmentosum-like disorders; Cockayne syndrome; Xeroderma Pigmentosum-like disorders; XP-like disorders to Cockayne and Xeroderma Pigmentosum-like disorders; Cockayne syndrome; Xeroderma Pigmentosum-like disorders; XP-like disorders; R227 Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off |
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| Rare genetic inflammatory skin disorders v1.1 | Ellen McDonagh Panel types changed to GMS Rare Disease; Component Of Super Panel; GMS Cancer Germline Virtual; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermodysplasia verruciformis v1.0 | Ellen McDonagh promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermodysplasia verruciformis v0.15 | Ellen McDonagh Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypotonic infant v9.1 | Rebecca Foulger Panel types changed to GMS Rare Disease Virtual; Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermodysplasia verruciformis v0.14 | Ellen McDonagh Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermodysplasia verruciformis v0.13 | Ellen McDonagh List of related panels changed from to R255 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - Deep sequencing v0.23 | TEK | Catherine Snow Classified gene: TEK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - Deep sequencing v0.23 | TEK | Catherine Snow Gene: tek has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - Deep sequencing v0.22 | TEK |
Catherine Snow gene: TEK was added gene: TEK was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Mode of inheritance for gene: TEK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TEK were set to 27519652 Phenotypes for gene: TEK were set to Venous malformations, multiple cutaneous and mucosal, 600195 Review for gene: TEK was set to AMBER Added comment: As advised by Genomics England clinician - "TEK is currently green on vascular and DDG2P panels, activating germline mutations cause cutaneous mucosal venous malformations, somatic mutations cause blue rubber bleb naevus syndrome. I don’t know how much evidence there is for blood mosaicism detection (versus tissue testing). Soblet et al, 2017, (PMID 27519652), didn’t find the pathogenic variants (identified through tissue testing) with targeted deep sequencing in blue rubber bleb naevus syndrome, but did find one at the 1-5% level in sporadic multifocal vascular malformation (probably all related conditions??). As not much targeted deep sequencing has been done it’s possible this would be a good future one. Sources: Expert Review |
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| Autosomal recessive primary hypertrophic osteoarthropathy v1.0 | Ivone Leong promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.295 | ARL6 | Eleanor Williams Classified gene: ARL6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.295 | ARL6 | Eleanor Williams Added comment: Comment on list classification: Making this gene green as is is green on the Limb disorders panel for polydactyly. Including on the advice of Prof Lyn Chitty. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.295 | ARL6 | Eleanor Williams Gene: arl6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autosomal recessive primary hypertrophic osteoarthropathy v0.12 |
Ivone Leong List of related panels changed from to R167 Panel types changed to GMS Rare Disease; Component Of Super Panel; GMS signed-off |
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| Skeletal dysplasia v1.294 | ARL6 | Eleanor Williams Phenotypes for gene: ARL6 were changed from to Polydactyly; Bardet-Biedl syndrome 3 600151 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.294 | ARL6 | Eleanor Williams Publications for gene: ARL6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.293 | ARL6 | Eleanor Williams Mode of inheritance for gene: ARL6 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v1.0 | Ivone Leong promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v0.36 |
Ivone Leong List of related panels changed from to R163 Panel types changed to GMS Rare Disease; Component Of Super Panel; GMS signed-off |
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| Vascular skin disorders v1.0 | Louise Daugherty promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular skin disorders v0.39 |
Louise Daugherty List of related panels changed from to R326 Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off |
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| Ichthyosis and erythrokeratoderma v1.0 | Catherine Snow promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v1.0 | Ellen McDonagh promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v0.19 |
Catherine Snow List of related panels changed from to R165 Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off |
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| Rare genetic inflammatory skin disorders v0.23 |
Ellen McDonagh List of related panels changed from to R332 Panel types changed to GMS Rare Disease; Component Of Super Panel; GMS signed-off |
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| Fetal anomalies v1.0 | Rebecca Foulger promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v1.0 | Louise Daugherty promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.28 |
Louise Daugherty List of related panels changed from to R236 Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off |
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| Fetal anomalies v0.375 | Rebecca Foulger Panel types changed to GMS Rare Disease Virtual; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cutaneous photosensitivity with a likely genetic cause v1.0 | Louise Daugherty promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v1.0 | Catherine Snow promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v0.27 |
Catherine Snow List of related panels changed from to R164 Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off |
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| Cutaneous photosensitivity with a likely genetic cause v0.12 |
Louise Daugherty List of related panels changed from to R237 Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off |
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| Segmental overgrowth disorders - Deep sequencing v2.0 | Ivone Leong promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Segmental overgrowth disorders - Deep sequencing v1.11 |
Ivone Leong List of related panels changed from Regional overgrowth disorders to Regional overgrowth disorders; R110 Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off |
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| Ichthyosis and erythrokeratoderma v0.18 | FLG2 | Catherine Snow Classified gene: FLG2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v0.18 | FLG2 | Catherine Snow Added comment: Comment on list classification: Sufficient number of variants in OMIM to rate as Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v0.18 | FLG2 | Catherine Snow Gene: flg2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, childhood onset v6.3 | Louise Daugherty Panel types changed to GMS Rare Disease Virtual; Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.22 | KIT | Catherine Snow reviewed gene: KIT: Rating: ; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - Deep sequencing v0.21 | NF2 | Catherine Snow Classified gene: NF2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - Deep sequencing v0.21 | NF2 | Catherine Snow Gene: nf2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - childhood onset v1.11 | Louise Daugherty Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - childhood onset v1.10 | Louise Daugherty Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - Deep sequencing v0.20 | NF2 |
Catherine Snow gene: NF2 was added gene: NF2 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Mode of inheritance for gene: NF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NF2 were set to 29409008 Phenotypes for gene: NF2 were set to NEUROFIBROMATOSIS, TYPE II; NF2 Added comment: Added to panel as advised by Genomics England Clinical Team as NF2 is tested on mosaic panel at GOSH and "targeted NGS can detect low level mosaicism in blood (often tumour tissue is tested if available but some may be detectable with deep sequencing of blood)". Sources: Expert Review |
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| Dystonia, chorea or related movement disorder, childhood onset v1.0 | Louise Daugherty promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v0.259 | Louise Daugherty Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v0.258 | CP | Louise Daugherty commented on gene: CP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v0.258 | CHMP2B | Louise Daugherty commented on gene: CHMP2B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v0.258 | RNASEH2A | Louise Daugherty commented on gene: RNASEH2A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v0.258 | L2HGDH | Louise Daugherty commented on gene: L2HGDH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v0.258 | HPRT1 | Louise Daugherty commented on gene: HPRT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v0.258 | CIZ1 | Louise Daugherty commented on gene: CIZ1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v0.258 | AUH | Louise Daugherty commented on gene: AUH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v0.26 | PLOD3 |
Catherine Snow changed review comment from: PMID: 30463024 reports on an individual with a homozygous missense mutation in PLOD3. In addition to skin blistering, the proband demonstrated extensive joint contractures, skeletal abnormalities and reduced growth. PMID: 18834968 identified a compound heterozygote in PLOD3 with recessive inheritance. The patient reported had an extremely complex phenotype, including deafness, myopia, arterial ruptures, osteopenia, joint contractures, bone fractures, and cataracts, as well as clinically observed skin blistering, apparently reflecting the deficiency in both lysyl hydroxylation and glycosylation of hydroxylysyl residues. As only two variants currently reported PLOD3 rated as Amber; to: PMID: 30463024 reports on an individual with a homozygous missense mutation in PLOD3. In addition to skin blistering, the proband demonstrated extensive joint contractures, skeletal abnormalities and reduced growth. PMID: 18834968 identified a compound heterozygote in PLOD3 with recessive inheritance. The patient reported had an extremely complex phenotype, including deafness, myopia, arterial ruptures, osteopenia, joint contractures, bone fractures, and cataracts, as well as clinically observed skin blistering, apparently reflecting the deficiency in both lysyl hydroxylation and glycosylation of hydroxylysyl residues. As only two variants currently reported PLOD3 rated as Amber. |
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| Epidermolysis bullosa and congenital skin fragility v0.26 | PLOD3 |
Catherine Snow commented on gene: PLOD3: PMID: 30463024 reports on an individual with a homozygous missense mutation in PLOD3. In addition to skin blistering, the proband demonstrated extensive joint contractures, skeletal abnormalities and reduced growth. PMID: 18834968 identified a compound heterozygote in PLOD3 with recessive inheritance. The patient reported had an extremely complex phenotype, including deafness, myopia, arterial ruptures, osteopenia, joint contractures, bone fractures, and cataracts, as well as clinically observed skin blistering, apparently reflecting the deficiency in both lysyl hydroxylation and glycosylation of hydroxylysyl residues. As only two variants currently reported PLOD3 rated as Amber |
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| Dystonia, chorea or related movement disorder, childhood onset v0.258 | TREX1 | Louise Daugherty commented on gene: TREX1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v0.258 | TPK1 | Louise Daugherty Classified gene: TPK1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v0.258 | TPK1 | Louise Daugherty Added comment: Comment on list classification: Changed from Red to Green as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH). Reported in multiple families | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v0.258 | TPK1 | Louise Daugherty Gene: tpk1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v0.257 | TIMM8A | Louise Daugherty commented on gene: TIMM8A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v0.257 | TAF1 | Louise Daugherty commented on gene: TAF1: Confirmed Green rating - as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH) 12 December 2019. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v0.257 | SUOX | Louise Daugherty commented on gene: SUOX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v0.257 | SAMHD1 | Louise Daugherty commented on gene: SAMHD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v0.257 | RNASEH2C | Louise Daugherty Tag founder-effect tag was added to gene: RNASEH2C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v0.257 | RNASEH2C | Louise Daugherty commented on gene: RNASEH2C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v0.257 | RNASEH2B | Louise Daugherty commented on gene: RNASEH2B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v0.257 | PDHX | Louise Daugherty commented on gene: PDHX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v0.257 | NPC2 | Louise Daugherty commented on gene: NPC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v0.257 | HEXA | Louise Daugherty commented on gene: HEXA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.22 | NLRP3 |
Catherine Snow Source Expert Review Green was added to NLRP3. Added phenotypes FCAS1; CINCA, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; CINCA SYNDROME for gene: NLRP3 Publications for gene NLRP3 were changed from to 11687797; 12032915 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Rare genetic inflammatory skin disorders v0.22 | NLRP1 |
Catherine Snow Added phenotypes AIADK; AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS for gene: NLRP1 Publications for gene NLRP1 were changed from to 27965258 |
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| Rare genetic inflammatory skin disorders v0.22 | GGCX |
Catherine Snow Added phenotypes PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY for gene: GGCX Publications for gene GGCX were changed from to 17110937 |
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| Rare genetic inflammatory skin disorders v0.22 | EGFR |
Catherine Snow Source Expert Review Green was added to EGFR. Added phenotypes NISBD2; INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 for gene: EGFR Publications for gene EGFR were changed from to 24691054; 29899996; 26436111 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Rare genetic inflammatory skin disorders v0.22 | AIRE |
Catherine Snow Source Expert Review Green was added to AIRE. Added phenotypes AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 for gene: AIRE Publications for gene AIRE were changed from to 9921903; 9398839 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Rare genetic inflammatory skin disorders v0.22 | ABCC6 |
Catherine Snow Added phenotypes PSEUDOXANTHOMA ELASTICUM; PXE for gene: ABCC6 Publications for gene ABCC6 were changed from to 10835642 |
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| Rare genetic inflammatory skin disorders v0.22 | TREX1 |
Catherine Snow Added phenotypes CHBL1; AICARDI-GOUTIERES SYNDROME 1; AGS1, CHILBLAIN LUPUS 1 for gene: TREX1 Publications for gene TREX1 were changed from to 16845398; 17660818 |
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| Rare genetic inflammatory skin disorders v0.22 | TMEM173 |
Catherine Snow Added phenotypes STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET; SAVI for gene: TMEM173 Publications for gene TMEM173 were changed from to 25029335 |
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| Rare genetic inflammatory skin disorders v0.22 | STAT3 |
Catherine Snow Added phenotypes ADMIO1; HIES1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT for gene: STAT3 Publications for gene STAT3 were changed from to 17676033; 25038750 |
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| Rare genetic inflammatory skin disorders v0.22 | SLC39A4 |
Catherine Snow Added phenotypes ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ for gene: SLC39A4 Publications for gene SLC39A4 were changed from to 12068297 |
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| Rare genetic inflammatory skin disorders v0.22 | SH3PXD2B |
Catherine Snow Added phenotypes FTHS; FRANK-TER HAAR SYNDROME for gene: SH3PXD2B Publications for gene SH3PXD2B were changed from to 20137777 |
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| Rare genetic inflammatory skin disorders v0.22 | SAMHD1 |
Catherine Snow Added phenotypes AICARDI-GOUTIERES SYNDROME 5; AGS5, CHILBLAIN LUPUS 2; CHBL2 for gene: SAMHD1 Publications for gene SAMHD1 were changed from to 21204240; 19525956 |
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| Rare genetic inflammatory skin disorders v0.22 | RAG2 |
Catherine Snow Added phenotypes OMENN SYNDROME for gene: RAG2 Publications for gene RAG2 were changed from to 9630231 |
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| Rare genetic inflammatory skin disorders v0.22 | RAG1 |
Catherine Snow Added phenotypes OMENN SYNDROME for gene: RAG1 Publications for gene RAG1 were changed from to 9630231 |
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| Rare genetic inflammatory skin disorders v0.22 | PSENEN | Catherine Snow Added phenotypes ACNINV2; ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE for gene: PSENEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.22 | PSEN1 |
Catherine Snow Source Expert Review Amber was added to PSEN1. Added phenotypes ACNE INVERSA, FAMILIAL, 3; ACNINV3 for gene: PSEN1 Publications for gene PSEN1 were changed from to 20929727 Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Rare genetic inflammatory skin disorders v0.22 | OSMR |
Catherine Snow Added phenotypes PLCA1; AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1 for gene: OSMR Publications for gene OSMR were changed from to 18179886 |
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| Rare genetic inflammatory skin disorders v0.22 | NSDHL |
Catherine Snow Added phenotypes CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS for gene: NSDHL Publications for gene NSDHL were changed from to 10710235 |
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| Rare genetic inflammatory skin disorders v0.22 | NOD2 |
Catherine Snow Added phenotypes BLAUS; BLAU SYNDROME for gene: NOD2 Publications for gene NOD2 were changed from to 11528384 |
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| Rare genetic inflammatory skin disorders v0.22 | NCSTN |
Catherine Snow Added phenotypes ACNINV1; ACNE INVERSA, FAMILIAL, 1 for gene: NCSTN Publications for gene NCSTN were changed from to 20929727 |
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| Rare genetic inflammatory skin disorders v0.22 | MVD |
Catherine Snow Added phenotypes POROKERATOSIS 7, MULTIPLE TYPES; POROK7 for gene: MVD Publications for gene MVD were changed from to 26202976 |
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| Rare genetic inflammatory skin disorders v0.22 | KRT10 |
Catherine Snow Source Expert Review Amber was added to KRT10. Added phenotypes Ichythosis with confetti; Palmoplantar keratoderma; Epidermolytic hyperkeratosis for gene: KRT10 Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Rare genetic inflammatory skin disorders v0.22 | KRT1 |
Catherine Snow Source Expert Review Amber was added to KRT1. Added phenotypes Ichthyosis histrix; Palmoplantar keratoderma; Epidermolytic hyperkeratosis for gene: KRT1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Rare genetic inflammatory skin disorders v0.22 | KIT |
Catherine Snow Added phenotypes MASTOCYTOSIS, CUTANEOUS; MASTC for gene: KIT Publications for gene KIT were changed from to 9990072 |
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| Rare genetic inflammatory skin disorders v0.22 | IL36RN |
Catherine Snow Added phenotypes PSORIASIS 14, PUSTULAR; PSORS14 for gene: IL36RN Publications for gene IL36RN were changed from to 22903787 |
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| Rare genetic inflammatory skin disorders v0.22 | IL1RN |
Catherine Snow Added phenotypes OMPP; OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS for gene: IL1RN Publications for gene IL1RN were changed from to 19494218 |
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| Rare genetic inflammatory skin disorders v0.22 | IKBKG |
Catherine Snow Source Expert Review Amber was added to IKBKG. Added phenotypes Incontinentia pigmenti for gene: IKBKG Publications for gene IKBKG were changed from to 10839543 Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Rare genetic inflammatory skin disorders v0.22 | GJB4 |
Catherine Snow Added phenotypes Erythrokeratodermia variabilis et progressiva 2 for gene: GJB4 Publications for gene GJB4 were changed from to 12648223 |
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| Rare genetic inflammatory skin disorders v0.22 | GJB3 |
Catherine Snow Added phenotypes Erythrokeratodermia variabilis et progressiva 1 for gene: GJB3 Publications for gene GJB3 were changed from to 10798362 |
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| Rare genetic inflammatory skin disorders v0.22 | GJA1 |
Catherine Snow Added phenotypes ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3; EKVP3 for gene: GJA1 Publications for gene GJA1 were changed from to 25398053 |
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| Rare genetic inflammatory skin disorders v0.22 | FLG |
Catherine Snow Source Expert Review Amber was added to FLG. Added phenotypes Eczema; Ichthyosis vulgaris 146700; Ichthyosis vulgaris for gene: FLG Publications for gene FLG were changed from 16444271; 16815158; 17030239; 17291859 to 16550169 Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Rare genetic inflammatory skin disorders v0.22 | FDPS |
Catherine Snow Added phenotypes POROKERATOSIS 9, MULTIPLE TYPES for gene: FDPS Publications for gene FDPS were changed from to 26202976 |
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| Rare genetic inflammatory skin disorders v0.22 | EDA |
Catherine Snow Source Expert Review Red was added to EDA. Added phenotypes ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED for gene: EDA Publications for gene EDA were changed from to 9683615 Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Rare genetic inflammatory skin disorders v0.22 | DOCK8 |
Catherine Snow Added phenotypes Hyper-IgE recurrent infection syndrome, autosomal recessive for gene: DOCK8 Publications for gene DOCK8 were changed from to 19776401 |
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| Rare genetic inflammatory skin disorders v0.22 | DCLRE1C |
Catherine Snow Source Expert Review Amber was added to DCLRE1C. Added phenotypes Omenn syndrome for gene: DCLRE1C Publications for gene DCLRE1C were changed from to 15731174 Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Rare genetic inflammatory skin disorders v0.22 | CYBB |
Catherine Snow Source Expert Review Amber was added to CYBB. Added phenotypes Chillblain lupus; Discoid lupus erythematosus for gene: CYBB Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Rare genetic inflammatory skin disorders v0.22 | CSTA |
Catherine Snow Source Expert Review Amber was added to CSTA. Added phenotypes susceptibility to psoriasis; Exfoliative ichthyosis/acral peeling skin syndrome; susceptility to atopic dermatitis for gene: CSTA Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Rare genetic inflammatory skin disorders v0.22 | CARD9 | Catherine Snow Added phenotypes Deep dermatophytosis for gene: CARD9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.22 | CARD14 |
Catherine Snow Added phenotypes Pityriasis rubra pilaris; susceptibility to psoriasis for gene: CARD14 Publications for gene CARD14 were changed from to 22703878; 22521418 |
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| Rare genetic inflammatory skin disorders v0.22 | CARD11 |
Catherine Snow Added phenotypes Immunodeficiency 11B with atopic dermatitis for gene: CARD11 Publications for gene CARD11 were changed from to 28628108 |
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| Rare genetic inflammatory skin disorders v0.22 | ADA2 |
Catherine Snow Added phenotypes VAIHS (Polyarteritis nodosa); VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME for gene: ADA2 Publications for gene ADA2 were changed from to 24552284 |
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| Rare genetic inflammatory skin disorders v0.21 | NLRP3 | Tom Cullup reviewed gene: NLRP3: Rating: GREEN; Mode of pathogenicity: ; Publications: 11687797, 12032915; Phenotypes: CINCA SYNDROME, CINCA, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1, FCAS1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.21 | NLRP1 | Tom Cullup reviewed gene: NLRP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 27965258; Phenotypes: AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS, AIADK; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.21 | GGCX | Tom Cullup reviewed gene: GGCX: Rating: AMBER; Mode of pathogenicity: ; Publications: 17110937; Phenotypes: PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.21 | EGFR | Tom Cullup reviewed gene: EGFR: Rating: GREEN; Mode of pathogenicity: ; Publications: 24691054, 29899996, 26436111; Phenotypes: INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, NISBD2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.21 | AIRE | Tom Cullup reviewed gene: AIRE: Rating: GREEN; Mode of pathogenicity: ; Publications: 9398839, 9921903; Phenotypes: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, APS1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.21 | ABCC6 | Tom Cullup reviewed gene: ABCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: 10835642; Phenotypes: PSEUDOXANTHOMA ELASTICUM, PXE; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.21 | TREX1 | Tom Cullup reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16845398, 17660818; Phenotypes: AICARDI-GOUTIERES SYNDROME 1, AGS1, CHILBLAIN LUPUS 1, CHBL1; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.21 | TMEM173 | Tom Cullup reviewed gene: TMEM173: Rating: GREEN; Mode of pathogenicity: ; Publications: 25029335; Phenotypes: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, SAVI; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.21 | STAT3 | Tom Cullup reviewed gene: STAT3: Rating: GREEN; Mode of pathogenicity: ; Publications: 17676033, 25038750; Phenotypes: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT, HIES1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1, ADMIO1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.21 | SLC39A4 | Tom Cullup reviewed gene: SLC39A4: Rating: GREEN; Mode of pathogenicity: ; Publications: 12068297; Phenotypes: ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE, AEZ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.21 | SH3PXD2B | Tom Cullup reviewed gene: SH3PXD2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 20137777; Phenotypes: FRANK-TER HAAR SYNDROME, FTHS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.21 | SAMHD1 | Tom Cullup reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19525956, 21204240; Phenotypes: AICARDI-GOUTIERES SYNDROME 5, AGS5, CHILBLAIN LUPUS 2, CHBL2; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.21 | RAG2 | Tom Cullup reviewed gene: RAG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 9630231; Phenotypes: OMENN SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.21 | RAG1 | Tom Cullup reviewed gene: RAG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9630231; Phenotypes: OMENN SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.21 | PSEN1 | Tom Cullup reviewed gene: PSEN1: Rating: AMBER; Mode of pathogenicity: ; Publications: 20929727; Phenotypes: ACNE INVERSA, FAMILIAL, 3, ACNINV3; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.21 | OSMR | Tom Cullup reviewed gene: OSMR: Rating: GREEN; Mode of pathogenicity: ; Publications: 18179886; Phenotypes: AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1, PLCA1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.21 | NSDHL | Tom Cullup reviewed gene: NSDHL: Rating: GREEN; Mode of pathogenicity: ; Publications: 10710235; Phenotypes: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.21 | NOD2 | Tom Cullup reviewed gene: NOD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11528384; Phenotypes: BLAU SYNDROME, BLAUS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.21 | NCSTN | Tom Cullup reviewed gene: NCSTN: Rating: GREEN; Mode of pathogenicity: ; Publications: 20929727; Phenotypes: ACNE INVERSA, FAMILIAL, 1, ACNINV1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.21 | MVD | Tom Cullup reviewed gene: MVD: Rating: GREEN; Mode of pathogenicity: ; Publications: 26202976; Phenotypes: POROKERATOSIS 7, MULTIPLE TYPES, POROK7; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.21 | KRT10 | Tom Cullup reviewed gene: KRT10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Epidermolytic hyperkeratosis, Palmoplantar keratoderma, Ichythosis with confetti; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.21 | KRT1 | Tom Cullup reviewed gene: KRT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Epidermolytic hyperkeratosis, Palmoplantar keratoderma, Ichthyosis histrix; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.21 | KIT | Tom Cullup reviewed gene: KIT: Rating: GREEN; Mode of pathogenicity: ; Publications: 9990072; Phenotypes: MASTOCYTOSIS, CUTANEOUS, MASTC; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.21 | IL36RN | Tom Cullup reviewed gene: IL36RN: Rating: GREEN; Mode of pathogenicity: ; Publications: 22903787; Phenotypes: PSORIASIS 14, PUSTULAR, PSORS14; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.21 | IL1RN | Tom Cullup reviewed gene: IL1RN: Rating: GREEN; Mode of pathogenicity: ; Publications: 19494218; Phenotypes: OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS, OMPP; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.21 | IKBKG | Tom Cullup reviewed gene: IKBKG: Rating: AMBER; Mode of pathogenicity: ; Publications: 10839543; Phenotypes: Incontinentia pigmenti; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.21 | GJB4 | Tom Cullup reviewed gene: GJB4: Rating: GREEN; Mode of pathogenicity: ; Publications: 12648223; Phenotypes: Erythrokeratodermia variabilis et progressiva 2; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.21 | GJB3 | Tom Cullup reviewed gene: GJB3: Rating: GREEN; Mode of pathogenicity: ; Publications: 10798362; Phenotypes: Erythrokeratodermia variabilis et progressiva 1; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.21 | GJA1 | Tom Cullup reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25398053; Phenotypes: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3, EKVP3; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.21 | FLG | Tom Cullup reviewed gene: FLG: Rating: AMBER; Mode of pathogenicity: ; Publications: 16550169; Phenotypes: Ichthyosis vulgaris, Eczema, Ichthyosis vulgaris 146700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.21 | FDPS | Tom Cullup reviewed gene: FDPS: Rating: GREEN; Mode of pathogenicity: ; Publications: 26202976; Phenotypes: POROKERATOSIS 9, MULTIPLE TYPES; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.21 | EDA | Tom Cullup reviewed gene: EDA: Rating: RED; Mode of pathogenicity: ; Publications: 9683615; Phenotypes: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.21 | DOCK8 | Tom Cullup reviewed gene: DOCK8: Rating: GREEN; Mode of pathogenicity: ; Publications: 19776401; Phenotypes: Hyper-IgE recurrent infection syndrome, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.21 | DCLRE1C | Tom Cullup reviewed gene: DCLRE1C: Rating: AMBER; Mode of pathogenicity: ; Publications: 15731174; Phenotypes: Omenn syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.21 | CYBB | Tom Cullup reviewed gene: CYBB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Chillblain lupus, Discoid lupus erythematosus; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.21 | CSTA | Tom Cullup reviewed gene: CSTA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: susceptility to atopic dermatitis, Exfoliative ichthyosis/acral peeling skin syndrome, susceptibility to psoriasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.21 | CARD9 | Tom Cullup reviewed gene: CARD9: Rating: GREEN; Mode of pathogenicity: ; Publications: 24131138; Phenotypes: Deep dermatophytosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.21 | CARD14 | Tom Cullup reviewed gene: CARD14: Rating: GREEN; Mode of pathogenicity: ; Publications: 22521418, 22703878; Phenotypes: susceptibility to psoriasis, Pityriasis rubra pilaris; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.21 | CARD11 | Tom Cullup reviewed gene: CARD11: Rating: GREEN; Mode of pathogenicity: ; Publications: 28628108; Phenotypes: Immunodeficiency 11B with atopic dermatitis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.21 | ADA2 | Tom Cullup reviewed gene: ADA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24552284; Phenotypes: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME, VAIHS (Polyarteritis nodosa); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v0.26 | PLOD3 | Catherine Snow Publications for gene: PLOD3 were set to 30463024 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v0.17 | SPINK5 | Catherine Snow Classified gene: SPINK5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v0.17 | SPINK5 | Catherine Snow Added comment: Comment on list classification: Sufficient cases in OMIM to promote to Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v0.17 | SPINK5 | Catherine Snow Gene: spink5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v0.16 | PIGL | Catherine Snow Classified gene: PIGL as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v0.16 | PIGL | Catherine Snow Added comment: Comment on list classification: Sufficient cases identified in OMIM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v0.16 | PIGL | Catherine Snow Gene: pigl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v0.15 | CLDN1 | Catherine Snow Classified gene: CLDN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v0.15 | CLDN1 | Catherine Snow Added comment: Comment on list classification: Sufficient cases in OMIM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v0.15 | CLDN1 | Catherine Snow Gene: cldn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v0.14 | LOR | Catherine Snow Publications for gene: LOR were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v0.13 | LOR | Catherine Snow Classified gene: LOR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v0.13 | LOR | Catherine Snow Added comment: Comment on list classification: Sufficient number of variants identified in the literature to classify as Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v0.13 | LOR | Catherine Snow Gene: lor has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratodermas v0.10 | FLG | Catherine Snow Publications for gene: FLG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v0.12 | FLG | Catherine Snow Publications for gene: FLG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v0.11 | FLG | Catherine Snow Classified gene: FLG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v0.11 | FLG | Catherine Snow Added comment: Comment on list classification: Sufficient evidence and phenotype to be relevant as Green in the panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v0.11 | FLG | Catherine Snow Gene: flg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v0.25 | PLOD3 | Catherine Snow Publications for gene: PLOD3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v0.24 | DSC3 | Catherine Snow edited their review of gene: DSC3: Added comment: Ayub et al. (PMID:19765682) identified a homozygous nonsense mutation (c.2129T>G; p.Leu710*) in DSC3 in four siblings from a consanguineous Afghani family who presented with a new genodermatosis affecting hair and skin. PMID:31790667 identifies a further Egyptian individual with skin fragility and Hypotrichosis. As less than 3 unrelated individuals identified DSC3 will currently be rated as Amber.; Changed publications: 19765682, 31790667; Changed phenotypes: ereditary Hypotrichosis, Recurrent Skin Vesicles, skin fragility; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v0.257 | GNAL | Louise Daugherty Classified gene: GNAL as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v0.257 | GNAL | Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH) 12 December 2019. Multiple unrelated families | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v0.257 | GNAL | Louise Daugherty Gene: gnal has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v0.35 | KRT83 | Catherine Snow Publications for gene: KRT83 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v0.256 | FOXRED1 | Louise Daugherty commented on gene: FOXRED1: Confirmed Green rating - as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH) 12 December 2019. Also on mitochondrial panel, more of a mitochondrial phenotype but may present early with movement disorder. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v0.256 | ARSA | Louise Daugherty changed review comment from: Confirmed Green rating - as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH) 12 December 2019; to: Confirmed Green rating - as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH) 12 December 2019. Described in multiple families | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v0.256 | AFG3L2 | Louise Daugherty changed review comment from: Confirmed Green rating - as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH) 12 December 2019; to: Confirmed Green rating - as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH) 12 December 2019. Described in multiple unrelated families | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v0.256 | ARSA | Louise Daugherty commented on gene: ARSA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.0 | Rebecca Foulger promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v0.256 | ACTB |
Louise Daugherty changed review comment from: Comment on list classification: Changed from Amber to Green as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH). Despite the evidence in the literature not supporting a Green rating the Specialist Test Group still supported a Green rating based on limited evidence – juvenile onset dystonia, only identified in 1 family, twins, brains examined post mortem; to: Comment on list classification: Changed from Amber to Green as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH) 12 December 2019. Despite the evidence in the literature not supporting a Green rating the Specialist Test Group still supported a Green rating based on limited evidence – juvenile onset dystonia, only identified in 1 family, twins, brains examined post mortem |
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| Dystonia, chorea or related movement disorder, childhood onset v0.256 | AFG3L2 | Louise Daugherty commented on gene: AFG3L2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v0.47 | Rebecca Foulger Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v0.256 | ACTB | Louise Daugherty Classified gene: ACTB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v0.256 | ACTB |
Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH). Despite the evidence in the literature not supporting a Green rating the Specialist Test Group still supported a Green rating based on limited evidence – juvenile onset dystonia, only identified in 1 family, twins, brains examined post mortem |
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| Dystonia, chorea or related movement disorder, childhood onset v0.256 | ACTB | Louise Daugherty Gene: actb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v0.255 | COL6A3 | Louise Daugherty Added comment: Comment on mode of inheritance: Changed MOI from recommendation from Specialist Test Group (via Robyn Labrum LNGLH) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v0.255 | COL6A3 | Louise Daugherty Mode of inheritance for gene: COL6A3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v0.254 | VAMP1 | Louise Daugherty Added comment: Comment on mode of inheritance: Changed MOI from recommendation from Specialist Test Group (via Robyn Labrum LNGLH) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v0.254 | VAMP1 | Louise Daugherty Mode of inheritance for gene: VAMP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v0.253 | SETX | Louise Daugherty Added comment: Comment on mode of inheritance: Changed MOI from recommendation from Specialist Test Group (via Robyn Labrum LNGLH) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v0.253 | SETX | Louise Daugherty Mode of inheritance for gene: SETX was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v2.0 | Sarah Leigh promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.0 | Rebecca Foulger promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.426 | Sarah Leigh Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.181 | Rebecca Foulger Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.180 | SHOX | Rebecca Foulger changed review comment from: Current G2P MOI is hemizygous for LANGER MESOMELIC DYSPLASIA, and x-linked dominant for LERI-WEILL DYSCHONDROSTEOSIS. Kept PanelApp MOI as BOTH monoallelic and biallelic, based on gene location in Pseudoautosomal region.; to: Due to a Gene2Phenotype update, the current G2P MOI is hemizygous for LANGER MESOMELIC DYSPLASIA, and x-linked dominant for LERI-WEILL DYSCHONDROSTEOSIS. Kept PanelApp MOI as BOTH monoallelic and biallelic, based on gene location in Pseudoautosomal region. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ophthalmological ciliopathies v1.0 | Rebecca Foulger promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ophthalmological ciliopathies v0.13 | Rebecca Foulger Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Distal myopathies v1.16 | Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric motor neuronopathies v1.26 | Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v1.30 | Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.180 | SHOX | Eleanor Williams Added comment: Comment on mode of inheritance: Updating mode of inheritance as monoallelic cases tend to be milder e.g. familial short stature / Leri-Weill, whereas biallelic are more severe (Langer mesomelic dysplasia). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.180 | SHOX | Eleanor Williams Mode of inheritance for gene: SHOX was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.374 | SHOX | Eleanor Williams Added comment: Comment on mode of inheritance: Updating mode of inheritance as monoallelic cases tend to be milder e.g. familial short stature / Leri-Weill, whereas biallelic are more severe (Langer mesomelic dysplasia). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.374 | SHOX | Eleanor Williams Mode of inheritance for gene: SHOX was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.3 | Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.27 | XRCC2 |
Catherine Snow Source Expert Review Amber was added to XRCC2. Added phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP U; FANCU for gene: XRCC2 Publications for gene XRCC2 were changed from to 22232082 Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Pigmentary skin disorders v0.27 | WRAP53 |
Catherine Snow Added phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3; DKCB3 for gene: WRAP53 Publications for gene WRAP53 were changed from to 21205863 |
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| Pigmentary skin disorders v0.27 | USB1 |
Catherine Snow Added phenotypes PN; POIKILODERMA WITH NEUTROPENIA for gene: USB1 Publications for gene USB1 were changed from to 20004881 |
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| Pigmentary skin disorders v0.27 | UBE2T |
Catherine Snow Added phenotypes FANCT; FANCONI ANEMIA, COMPLEMENTATION GROUP T for gene: UBE2T Publications for gene UBE2T were changed from to 26046368 |
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| Pigmentary skin disorders v0.27 | TYRP1 |
Catherine Snow Added phenotypes OCA3; ALBINISM, OCULOCUTANEOUS, TYPE III for gene: TYRP1 Publications for gene TYRP1 were changed from to 9345097 |
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| Pigmentary skin disorders v0.27 | TYR |
Catherine Snow Mode of inheritance for gene TYR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1B; OCA1A, ALBINISM, OCULOCUTANEOUS, TYPE IB for gene: TYR Publications for gene TYR were changed from to 18326704 |
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| Pigmentary skin disorders v0.27 | TSC2 |
Catherine Snow Added phenotypes TUBEROUS SCLEROSIS 2; TSC2 for gene: TSC2 Publications for gene TSC2 were changed from to 12111193 |
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| Pigmentary skin disorders v0.27 | TSC1 |
Catherine Snow Added phenotypes TSC1; TUBEROUS SCLEROSIS 1 for gene: TSC1 Publications for gene TSC1 were changed from to 10227394 |
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| Pigmentary skin disorders v0.27 | TMC8 |
Catherine Snow Added phenotypes EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2; EV2 for gene: TMC8 Publications for gene TMC8 were changed from to 12426567 |
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| Pigmentary skin disorders v0.27 | TMC6 |
Catherine Snow Added phenotypes EV1; EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 for gene: TMC6 Publications for gene TMC6 were changed from to 12426567 |
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| Pigmentary skin disorders v0.27 | TINF2 |
Catherine Snow Added phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3, REVESZ SYNDROME for gene: TINF2 Publications for gene TINF2 were changed from to 21477109; 18252230 |
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| Pigmentary skin disorders v0.27 | TERT |
Catherine Snow Added phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2; DKCA2, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4, INCLUDED; DKCB4, INCLUDED for gene: TERT Publications for gene TERT were changed from to 17785587; 18460650 |
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| Pigmentary skin disorders v0.27 | TERC |
Catherine Snow Added phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1; DKCA1 for gene: TERC Publications for gene TERC were changed from to 11574891 |
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| Pigmentary skin disorders v0.27 | STK11 |
Catherine Snow Added phenotypes PJS; PEUTZ-JEGHERS SYNDROME for gene: STK11 Publications for gene STK11 were changed from to 9425897 |
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| Pigmentary skin disorders v0.27 | SPRED1 |
Catherine Snow Added phenotypes LEGIUS SYNDROME; LGSS for gene: SPRED1 Publications for gene SPRED1 were changed from to 17704776 |
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| Pigmentary skin disorders v0.27 | SOX18 |
Catherine Snow Added phenotypes HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME; HLTS, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS for gene: SOX18 Publications for gene SOX18 were changed from to 12740761 |
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| Pigmentary skin disorders v0.27 | SOX10 |
Catherine Snow Added phenotypes WS4C, WAARDENBURG SYNDROME, TYPE 2E; PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE; PCWH, WAARDENBURG SYNDROME, TYPE 4C; WS2E for gene: SOX10 Publications for gene SOX10 were changed from to 9462749; 21965087; 10762540 |
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| Pigmentary skin disorders v0.27 | SOS2 |
Catherine Snow Added phenotypes NS9; NOONAN SYNDROME 9 for gene: SOS2 Publications for gene SOS2 were changed from 25795793; 26173643 to 25795793 |
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| Pigmentary skin disorders v0.27 | SOS1 |
Catherine Snow Added phenotypes NOONAN SYNDROME 4; NS4 for gene: SOS1 Publications for gene SOS1 were changed from to 17143285 |
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| Pigmentary skin disorders v0.27 | SLX4 |
Catherine Snow Added phenotypes FANCP; FANCONI ANEMIA, COMPLEMENTATION GROUP P for gene: SLX4 Publications for gene SLX4 were changed from to 21240277 |
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| Pigmentary skin disorders v0.27 | SLC45A2 |
Catherine Snow Added phenotypes OCA4; ALBINISM, OCULOCUTANEOUS, TYPE IV for gene: SLC45A2 Publications for gene SLC45A2 were changed from to 14722913 |
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| Pigmentary skin disorders v0.27 | SLC29A3 |
Catherine Snow Added phenotypes HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME for gene: SLC29A3 Publications for gene SLC29A3 were changed from to 18940313 |
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| Pigmentary skin disorders v0.27 | SLC24A5 |
Catherine Snow Added phenotypes OCA6; ALBINISM, OCULOCUTANEOUS, TYPE VI for gene: SLC24A5 Publications for gene SLC24A5 were changed from to 23364476 |
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