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Primary immunodeficiency or monogenic inflammatory bowel disease v3.6 | TLN1 |
Achchuthan Shanmugasundram changed review comment from: PMID:35861643 reported a 20-year old man of Mexican ancestry with a complex phenotype including thrombocytopenia, T lymphopenia, and low IgG levels. The patient had an absolute lymphocyte counts <1000/mcL and low absolute T-cells. Recent B-cell subset analysis revealed 96% naïve and 4% switched memory B-cells and initial serum immunoglobulin levels at six years of age included: IgG 273, IgA 130, IgM 36. Because of poor antibody responses to pneumococcal vaccine, he was started on immunoglobulin replacement therapy, which he has continued to the present. He continued to experienced intermittent sinusitis, otitis media and bronchitis since 10 years of age, which cleared with oral antibiotics. At 18 years of age, he had abdominal pain at times that was diagnosed as small intestinal bacterial overgrowth, headaches often treated as migraines, and joint pain with limited signs of active arthritis. He was identified with a de novo heterozygous variant c.685C > T (p.Pro 229 Ser) that was not present in his parents. Sources: Literature; to: PMID:35861643 reported a 20-year old man of Mexican ancestry with a complex phenotype including thrombocytopenia, T lymphopenia, and low IgG levels. The patient had an absolute lymphocyte count of <1000/mcL and low absolute T-cells. Recent B-cell subset analysis revealed 96% naïve and 4% switched memory B-cells and initial serum immunoglobulin levels at six years of age included: IgG 273, IgA 130, IgM 36. Because of poor antibody responses to pneumococcal vaccine, he was started on immunoglobulin replacement therapy, which he has continued to the present. He continued to experienced intermittent sinusitis, otitis media and bronchitis since 10 years of age, which cleared with oral antibiotics. At 18 years of age, he had abdominal pain at times that was diagnosed as small intestinal bacterial overgrowth, headaches often treated as migraines, and joint pain with limited signs of active arthritis. He was identified with a de novo heterozygous variant c.685C > T (p.Pro 229 Ser) that was not present in his parents. Sources: Literature |
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Primary immunodeficiency or monogenic inflammatory bowel disease v3.6 | TLN1 |
Achchuthan Shanmugasundram gene: TLN1 was added gene: TLN1 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: TLN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TLN1 were set to 35861643 Phenotypes for gene: TLN1 were set to lymphopenia, MONDO:0003783 Review for gene: TLN1 was set to RED Added comment: PMID:35861643 reported a 20-year old man of Mexican ancestry with a complex phenotype including thrombocytopenia, T lymphopenia, and low IgG levels. The patient had an absolute lymphocyte counts <1000/mcL and low absolute T-cells. Recent B-cell subset analysis revealed 96% naïve and 4% switched memory B-cells and initial serum immunoglobulin levels at six years of age included: IgG 273, IgA 130, IgM 36. Because of poor antibody responses to pneumococcal vaccine, he was started on immunoglobulin replacement therapy, which he has continued to the present. He continued to experienced intermittent sinusitis, otitis media and bronchitis since 10 years of age, which cleared with oral antibiotics. At 18 years of age, he had abdominal pain at times that was diagnosed as small intestinal bacterial overgrowth, headaches often treated as migraines, and joint pain with limited signs of active arthritis. He was identified with a de novo heterozygous variant c.685C > T (p.Pro 229 Ser) that was not present in his parents. Sources: Literature |
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Primary immunodeficiency or monogenic inflammatory bowel disease v2.580 | ADAR | Arina Puzriakova Phenotypes for gene: ADAR were changed from Fever Syndromes and Related Diseases, Aicardi-Goutieres syndrome 6, 615010; AGS6; Type 1 interferonopathies; Classical AGS, BSN, SP; Autoinflammatory Disorders to Aicardi-Goutieres syndrome 6, OMIM:615010; Fever Syndromes and Related Diseases; Type 1 interferonopathies; Autoinflammatory Disorders | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 | ADAM17 | Arina Puzriakova Tag for-review was removed from gene: ADAM17. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 | ADAM17 | Arina Puzriakova commented on gene: ADAM17: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 | ADAM17 |
Arina Puzriakova Source Expert Review Green was added to ADAM17. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Primary immunodeficiency or monogenic inflammatory bowel disease v2.524 | ADA2 | Arina Puzriakova Phenotypes for gene: ADA2 were changed from Polyarteritis nodosa; Polyarteritis nodosa, childhood-onset, 615688; ADA2 deficiency; Deficiency of ADA2 (DADA2); Other autoinflammatory diseases with known genetic defect; Fever with early onset stroke; combined immunodeficiency; Evans' syndrome; Polyarteritis nodosa, childhood-onset, early-onset recurrent ischemic stroke and fever; Autoinflammatory Disorders to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688; Polyarteritis nodosa, childhood-onset, early-onset recurrent ischemic stroke and fever; Autoinflammatory Disorders | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.368 | AP3D1 |
Eleanor Williams edited their review of gene: AP3D1: Added comment: Provisionally associated with Hermansky-Pudlak syndrome 10 #617050 (AR) in OMIM. PMID: 30472485 - Mohammad et al 2019 - 1 family with parents who were first cousins with three affected children who presented similarly with severe seizures, developmental delay, albinism, and immunodeficiency. Whole exome sequencing identified homozygosity for AP3D1 deleterious sequence variant (NM_001261826.3:c.1978delG: p.Ala660Argfs*54) which co-segregated with the phenotype. The variant is not found in the gnomAD database or in an in-house database of 284 exome or Middle Eastern population specific database. PMID: 26744459 - Ammann et al 2016 - report a patient with consanguineous Turkish parents presenting with albinism, neutropenia, immunodeficiency, neurodevelopmental delay, generalized seizures, and impaired hearing. Whole exome sequencing identified a homozygous mutation in AP3D1 (c.3565_3566delGT) that leads to destabilization of the adaptor protein 3 (AP3) complex.; Changed rating: AMBER; Changed phenotypes: Hermansky-Pudlak syndrome 10, 617050; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal |
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Primary immunodeficiency or monogenic inflammatory bowel disease v2.351 | ADAM17 | Arina Puzriakova Classified gene: ADAM17 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.351 | ADAM17 | Arina Puzriakova Gene: adam17 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.350 | ADAM17 | Arina Puzriakova Tag for-review tag was added to gene: ADAM17. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.219 | ADA2 | Eleanor Williams Classified gene: ADA2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.219 | ADA2 | Eleanor Williams Gene: ada2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.218 | ADA | Eleanor Williams Classified gene: ADA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.218 | ADA | Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.218 | ADA | Eleanor Williams Gene: ada has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 | ADAM17 |
Eleanor Williams Source Other was added to ADAM17. Publications for gene ADAM17 were updated from 22010916; 28930861; 20603312; 32048120; 25171914; 11149563; 25058236; 32086639; 29560122; 26683521; 25804906 to 29560122; 22010916; 25058236; 32048120; 20603312; 32086639; 26683521; 11149563; 25804906; 25171914; 28930861 |
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Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 | ADA2 |
Eleanor Williams Source Other was added to ADA2. Publications for gene ADA2 were updated from 24552284; 24552285; 26922074; 29564582 to 24552284; 24552285; 29564582; 27059682; 26922074; 27444081 Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 | ADA |
Eleanor Williams Source Other was added to ADA. Publications for gene ADA were updated from to 3475710; 6134754; 8227344; 2567118; 6200875; 2166947 Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 | ADAM17 | Eleanor Williams edited their review of gene: ADAM17: Added comment: The following PubMed IDs were added to entity ADAM17: 22010916. These publications have been associated with OMIM phenotype MIM#614328, which is listed for this entity, by the autoinflammation subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.; Changed publications: 22010916 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 | ADA2 | Eleanor Williams reviewed gene: ADA2: Rating: ; Mode of pathogenicity: ; Publications: 24552285, 24552284, 27059682, 27444081; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 | ADA | Eleanor Williams reviewed gene: ADA: Rating: ; Mode of pathogenicity: ; Publications: 6200875, 8227344, 3475710, 2166947, 2567118, 6134754; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.127 | ADAM17 | Eleanor Williams Classified gene: ADAM17 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.127 | ADAM17 | Eleanor Williams Gene: adam17 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.126 | ADAM17 | Eleanor Williams Phenotypes for gene: ADAM17 were changed from inflammatory skin; Inflammatory skin and bowel disease, neonatal, 1; Inflammatory skin and bowel disease, neonatal 1, 614328; ADAM17 deficiency; Autoinflammatory Disorders; IBD-1; Early onset diarrhea and skin lesions to inflammatory skin; Inflammatory skin and bowel disease, neonatal, 1; Inflammatory skin and bowel disease, neonatal 1, 614328; ADAM17 deficiency; Autoinflammatory Disorders; IBD-1; Early onset diarrhea and skin lesions; Recurrent infections | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.125 | ADAM17 | Eleanor Williams Publications for gene: ADAM17 were set to 22010916; 28930861; 20603312; 32048120; 25171914; 11149563; 25058236; 32086639 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.124 | ADAM17 | Eleanor Williams commented on gene: ADAM17 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.90 | PARP1 |
Sarah Leigh gene: PARP1 was added gene: PARP1 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: PARP1 was set to Unknown Publications for gene: PARP1 were set to 31915279 Review for gene: PARP1 was set to RED Added comment: PARP1 Enhances Influenza A Virus Propagation by Facilitating Degradation of Host Type I Interferon Receptor. Therefore, activiation of PARP1 could promote Influenza infection, by interfering with the IFNAR1. Sources: Literature |
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Primary immunodeficiency or monogenic inflammatory bowel disease v2.46 | ADAM17 | Zornitza Stark reviewed gene: ADAM17: Rating: GREEN; Mode of pathogenicity: None; Publications: 22010916, 29560122, 26683521, 25804906; Phenotypes: Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328, Recurrent infections; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.41 | IFNAR1 |
Sarah Leigh Added comment: Comment on publications: PMID 31270247: reports two cases of healthy children with adverse reactions to live attuated virus vaccines. Each had biallelic loss-of-function IFNAR1 variations and the effects of these was demonstrated by the patient-derived fibroblasts being susceptible to viruses. This effect was recused by the WT IFNAR1. PMID 26676772: reports the tageted degradation of IFNAR1 protein by Influenza A virus (IAV), allowing the virus to escape the powerful innate immune system. Thus the loss of function of IFNAR1 would increase the susceptability to viral infection. PMID 20020050: reports the tageted degradation of IFNAR1 protein by Severe Acute Respiratory Syndrome Coronavirus (SARS-CoV). Confocal microscopic analysis showed increased translocation of IFNAR1 into the lysosomal compartment and flow cytometry showed reduced levels of IFNAR1 in 3a-expressing cells. |
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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 | 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 v2.28 | 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 v2.27 | 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 v1.130 | ADAM17 | Louise Daugherty commented on gene: ADAM17: Inflammatory skin and bowel disease neonatal: one family, moderately elevated IgE, no evidence of immunodeficiency although nail, ear, eye infections - a phenocopy? Phenotypic opinion? Amber on association | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.120 | SH3BP2 | Louise Daugherty commented on gene: SH3BP2: OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): SH3BP2 .PanelApp HGNC gene symbol check: SH3BP2 . IUIS Disease: Cherubism . IUIS Inheritance: AD .T cells: Variable, .B cells: N/A, .IUIS Other affected cells: Stroma cells, bone cells. IUIS Associated features: Bone degeneration in jaws. IUIS Major category: Autoinflammatory Disorders. IUIS Subcategory: Non-Inflammasome Related Conditions | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.120 | SH3BP2 | Louise Daugherty commented on gene: SH3BP2: Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: SH3BP2 GRID_Gene_Symbol: SH3BP2 GRID_Transcript_ENS_Community submitted: ENST00000503393 GRID_Transcript_RefSeq: NM_001122681.1 GRID_Transcript_ENS_used_on_Production: ENST00000503393 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.120 | MBL2 | Louise Daugherty commented on gene: MBL2: Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: MBL2 GRID_Gene_Symbol: MBL2 GRID_Transcript_ENS_Community submitted: ENST00000373968 GRID_Transcript_RefSeq: NM_000242.2 GRID_Transcript_ENS_used_on_Production: ENST00000373968 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.120 | MBL2 | Louise Daugherty commented on gene: MBL2: Original metadata downloaded from ESID Registry. ESID_Gene_original: MBL, PanelApp HGNC gene symbol check: MBL2, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Complement deficiencies / Mannose-binding lectin (MBL) / Mannose-binding lectin deficiency (MBL) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 | ADAM17 | Louise Daugherty commented on gene: ADAM17: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is only enough evidence to rate this gene Amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 | ADAM17 | Louise Daugherty commented on gene: ADAM17: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is only enough evidence to rate this gene Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.115 | ADAM17 | Kimberly Gilmour reviewed gene: ADAM17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.114 | ADAM17 | Tracy Briggs reviewed gene: ADAM17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.103 | BLOC1S6 |
Louise Daugherty gene: BLOC1S6 was added gene: BLOC1S6 was added to Primary immunodeficiency. Sources: Other Mode of inheritance for gene: BLOC1S6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BLOC1S6 were set to Hermansky-pudlak syndrome 9, 614171; HPS9, palladin deficiency (NK cell defect); Immune Dysregulation Review for gene: BLOC1S6 was set to RED Added comment: 2 reviews Sophie Hambleton (Newcastle University) [email protected] Red List (low evidence) Only 1 reported patient (a previous report had to be retracted). Created: 19 Jun 2018, 5:47 a.m. Mode of inheritance BIALLELIC, autosomal or pseudoautosomal Created: 19 Jun 2018, 5:47 a.m. Panel version: 0.1006 Delete Your review Louise Daugherty (Genomics England Curator) [email protected] I don't know Comment on list classification: Changed from Amber to Red after external clinical review, only one bonafide case Created: 20 Jun 2018, 3:10 p.m. Edit your comment Delete comment After review decided to keep as Amber- currently there is only one case for HPS9 need more individuals to determine if immunodeficiency is a feature of BLOC-1 deficiency Created: 11 May 2018, 4:31 p.m. Edit your comment Delete comment Comment on publications: one one affected reported to date (2012). Added HPS gene review PMID: 20301464 (2017) Created: 11 May 2018, 4:25 p.m. Edit your comment Delete comment Comment on phenotypes: added PID phenotype Created: 11 May 2018, 4:24 p.m. Edit your comment Delete comment This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1. Created: 20 Apr 2018, 12:25 p.m. Edit your comment Delete comment Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: BLOC1S6, GRID_Gene_Symbol: BLOC1S6, GRID_Transcript_ENS_Community submitted: ENST00000220531, GRID_Transcript_RefSeq: NM_012388.3, GRID_Transcript_ENS_used_on_Production: ENST00000220531 Created: 17 Apr 2018, 12:12 p.m. Edit your comment Delete comment Created: 17 Apr 2018, 12:12 p.m. Panel version: 0.679 Sources: Other |
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Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 | ADAR | Louise Daugherty commented on gene: ADAR: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 | ADA2 | Louise Daugherty commented on gene: ADA2: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 | ADA | Louise Daugherty commented on gene: ADA: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 | ADAR | Louise Daugherty commented on gene: ADAR: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 | ADA2 | Louise Daugherty commented on gene: ADA2: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 | ADA | Louise Daugherty commented on gene: ADA: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 | ADAR | Kimberly Gilmour reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 | ADA2 | Kimberly Gilmour reviewed gene: ADA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 | ADA | Kimberly Gilmour commented on gene: ADA: agree with green gene | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 | ADAR | Tracy Briggs reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 | ADA2 | Tracy Briggs reviewed gene: ADA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 | ADA | Tracy Briggs commented on gene: ADA: YES- this is covered on our targeted exome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 | ADAM17 | Louise Daugherty BLOC1S6 was changed to ADAM17 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.63 | ADAM17 | Louise Daugherty Source North West GLH was added to ADAM17. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.62 | ADAM17 | Louise Daugherty Source London North GLH was added to ADAM17. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.61 | ADAM17 | Louise Daugherty Source NHS GMS was added to ADAM17. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 | ADAR | Louise Daugherty Source NHS GMS was added to ADAR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 | ADA2 | Louise Daugherty Source NHS GMS was added to ADA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 | ADA | Louise Daugherty Source NHS GMS was added to ADA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 | ADAR | Louise Daugherty Source North West GLH was added to ADAR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 | ADA2 | Louise Daugherty Source North West GLH was added to ADA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 | ADA | Louise Daugherty Source North West GLH was added to ADA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 | ADAR | Louise Daugherty Source London North GLH was added to ADAR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 | ADA2 | Louise Daugherty Source London North GLH was added to ADA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 | ADA | Louise Daugherty Source London North GLH was added to ADA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ADA2 | Louise Daugherty commented on gene: ADA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ADAR | Louise Daugherty commented on gene: ADAR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ADAM17 | Louise Daugherty commented on gene: ADAM17 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ADA | Louise Daugherty commented on gene: ADA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ADAM17 | Louise Daugherty marked gene: ADAM17 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ADAM17 | Louise Daugherty commented on gene: ADAM17 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ADAM17 | Sophie Hambleton reviewed gene: ADAM17 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ADA | Louise Daugherty marked gene: ADA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ADA2 | Louise Daugherty marked gene: ADA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ADAR | Louise Daugherty marked gene: ADAR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ADAR | Louise Daugherty edited their review of gene: ADAR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ADAR | Sophie Hambleton reviewed gene: ADAR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ADA2 | Sophie Hambleton reviewed gene: ADA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ADA | Ellen McDonagh edited their review of ADA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ADAR | Louise Daugherty classified ADAR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ADAR | Louise Daugherty edited their review of ADAR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ADAM17 | Louise Daugherty edited their review of ADAM17 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ADAM17 | Louise Daugherty edited their review of ADAM17 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ADA2 | Louise Daugherty commented on ADA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ADA2 | Louise Daugherty classified ADA2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ADA2 | Louise Daugherty commented on ADA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ADAR | Louise Daugherty commented on ADAR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ADAM17 | Louise Daugherty commented on ADAM17 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ADA2 | Louise Daugherty commented on ADA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ADAR | Louise Daugherty commented on ADAR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ADA2 | Louise Daugherty commented on ADA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ADA | Louise Daugherty commented on ADA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ADAR | Louise Daugherty commented on ADAR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ADA2 | Louise Daugherty commented on ADA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ADA | Louise Daugherty commented on ADA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ADAR | Louise Daugherty reviewed ADAR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ADAM17 | Louise Daugherty reviewed ADAM17 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ADA2 | Louise Daugherty reviewed ADA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ADA | Louise Daugherty reviewed ADA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ADA | Louise Daugherty Added gene to panel |