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Hereditary neuropathy or pain disorder v5.41 ADCY6 Sarah Leigh Gene: adcy6 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.40 ADA2 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ADA2.
Tag Q3_24_NHS_review tag was added to gene: ADA2.
Hereditary neuropathy or pain disorder v5.40 ADA2 Sarah Leigh reviewed gene: ADA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy or pain disorder v5.40 ADA2 Sarah Leigh Phenotypes for gene: ADA2 were changed from VASCULITIS; AUTOINFLAMMATION; IMMUNODEFICIENCY; HEMATOLOGIC DEFECTS; peripheral neuropathy; stroke to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688; vasculitis due to ADA2 deficiency, MONDO:0014306
Hereditary neuropathy or pain disorder v5.39 ADA2 Sarah Leigh Classified gene: ADA2 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.39 ADA2 Sarah Leigh Gene: ada2 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.38 ABCD1 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ABCD1.
Tag Q3_24_NHS_review tag was added to gene: ABCD1.
Hereditary neuropathy or pain disorder v5.38 ABCD1 Sarah Leigh reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24480483, 7904210, 7811247, 8535452, 8566952; Phenotypes: Adrenoleukodystrophy, OMIM:300100, Adrenomyeloneuropathy, adult, OMIM:300100, adrenoleukodystrophy, MONDO:0018544; Mode of inheritance: None
Hereditary neuropathy or pain disorder v5.38 ABCD1 Sarah Leigh Classified gene: ABCD1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.38 ABCD1 Sarah Leigh Gene: abcd1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.37 ATXN10_ATTCT Sarah Leigh Tag STR tag was added to STR: ATXN10_ATTCT.
Hereditary neuropathy or pain disorder v5.37 ATXN7_CAG Sarah Leigh Phenotypes for STR: ATXN7_CAG were changed from Ataxia neuropathy syndromes to Spinocerebellar ataxia 7, OMIM:164500
Hereditary neuropathy or pain disorder v5.36 ATXN7_CAG Sarah Leigh Classified STR: ATXN7_CAG as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.36 ATXN7_CAG Sarah Leigh Str: atxn7_cag has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.35 ATXN7_CAG Sarah Leigh STR: ATXN7_CAG was added
STR: ATXN7_CAG was added to Hereditary neuropathy or pain disorder. Sources: NHS GMS
Q3_24_promote_green, Q3_24_NHS_review, STR tags were added to STR: ATXN7_CAG.
Mode of inheritance for STR: ATXN7_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN7_CAG were set to Ataxia neuropathy syndromes
Review for STR: ATXN7_CAG was set to GREEN
Added comment: ATXN7_CAG added to Hereditary neuropathy or pain disorder panel on the recommendation of Alex Rossor (UCL Institute of Neurology), who recommended its promotion to Green.
Sources: NHS GMS
Hereditary neuropathy or pain disorder v5.34 ATXN3_CAG Sarah Leigh Gene was set to ATXN3.
Hereditary neuropathy or pain disorder v5.33 ATXN3_CAG Sarah Leigh Phenotypes for STR: ATXN3_CAG were changed from Ataxia neuropathy syndromes to Machado-Joseph disease, OMIM:109150
Hereditary neuropathy or pain disorder v5.32 ATXN3_CAG Sarah Leigh Classified STR: ATXN3_CAG as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.32 ATXN3_CAG Sarah Leigh Str: atxn3_cag has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.31 ATXN3_CAG Sarah Leigh STR: ATXN3_CAG was added
STR: ATXN3_CAG was added to Hereditary neuropathy or pain disorder. Sources: NHS GMS
Q3_24_promote_green, Q3_24_NHS_review, STR tags were added to STR: ATXN3_CAG.
Mode of inheritance for STR: ATXN3_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN3_CAG were set to Ataxia neuropathy syndromes
Review for STR: ATXN3_CAG was set to GREEN
Added comment: ATXN3_CAG added to Hereditary neuropathy or pain disorder panel on the recommendation of Alex Rossor (UCL Institute of Neurology), who recommended its promotion to Green.
Sources: NHS GMS
Hereditary neuropathy or pain disorder v5.30 ATXN2_CAG Sarah Leigh Phenotypes for STR: ATXN2_CAG were changed from Ataxia neuropathy syndromes to Spinocerebellar ataxia 2, OMIM:183090
Hereditary neuropathy or pain disorder v5.29 ATXN2_CAG Sarah Leigh Classified STR: ATXN2_CAG as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.29 ATXN2_CAG Sarah Leigh Str: atxn2_cag has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.28 ATXN2_CAG Sarah Leigh STR: ATXN2_CAG was added
STR: ATXN2_CAG was added to Hereditary neuropathy or pain disorder. Sources: NHS GMS
Q3_24_promote_green, Q3_24_NHS_review, STR tags were added to STR: ATXN2_CAG.
Mode of inheritance for STR: ATXN2_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN2_CAG were set to Ataxia neuropathy syndromes
Review for STR: ATXN2_CAG was set to GREEN
Added comment: ATXN2_CAG added to Hereditary neuropathy or pain disorder panel on the recommendation of Alex Rossor (UCL Institute of Neurology), who recommended its promotion to Green.
Sources: NHS GMS
Hereditary neuropathy or pain disorder v5.27 ATXN10_ATTCT Sarah Leigh Phenotypes for STR: ATXN10_ATTCT were changed from Ataxia neuropathy syndromes to Spinocerebellar ataxia 10, OMIM:603516
Hereditary neuropathy or pain disorder v5.26 ATXN10_ATTCT Sarah Leigh Classified STR: ATXN10_ATTCT as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.26 ATXN10_ATTCT Sarah Leigh Str: atxn10_attct has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.25 ATXN10_ATTCT Sarah Leigh edited their review of STR: ATXN10_ATTCT: Changed rating: GREEN
Hereditary neuropathy or pain disorder v5.25 ATXN10_ATTCT Sarah Leigh edited their review of STR: ATXN10_ATTCT: Changed rating: AMBER
Hereditary neuropathy or pain disorder v5.25 ATXN10_ATTCT Sarah Leigh STR: ATXN10_ATTCT was added
STR: ATXN10_ATTCT was added to Hereditary neuropathy or pain disorder. Sources: NHS GMS
Q3_24_promote_green, Q3_24_NHS_review tags were added to STR: ATXN10_ATTCT.
Mode of inheritance for STR: ATXN10_ATTCT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN10_ATTCT were set to Ataxia neuropathy syndromes
Review for STR: ATXN10_ATTCT was set to GREEN
Added comment: ATXN10_ATTCT has been added to Hereditary neuropathy or pain disorder panel on the recommendation of Alex Rossor (UCL Institute of Neurology), who recommended its promotion to Green.
Sources: NHS GMS
Hereditary neuropathy or pain disorder v5.24 ATXN1_CAG Sarah Leigh Tag Q3_24_NHS_review tag was added to STR: ATXN1_CAG.
Hereditary neuropathy or pain disorder v5.24 ATXN1_CAG Sarah Leigh Tag Q3_24_promote_green tag was added to STR: ATXN1_CAG.
Hereditary neuropathy or pain disorder v5.24 ATXN1_CAG Sarah Leigh reviewed STR: ATXN1_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ataxia neuropathy syndromes; Mode of inheritance: None
Hereditary neuropathy or pain disorder v5.24 ATXN1_CAG Sarah Leigh Classified STR: ATXN1_CAG as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.24 ATXN1_CAG Sarah Leigh Str: atxn1_cag has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.23 ATXN1_CAG Sarah Leigh Entity copied from Hereditary neuropathy v1.489
Hereditary neuropathy or pain disorder v5.23 ATXN1_CAG Sarah Leigh STR: ATXN1_CAG was added
STR: ATXN1_CAG was added to Hereditary neuropathy or pain disorder. Sources: Expert Review Green,NHS GMS
STR tags were added to STR: ATXN1_CAG.
Mode of inheritance for STR: ATXN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN1_CAG were set to Spinocerebellar ataxia 1, OMIM:164400
Hereditary neuropathy or pain disorder v5.22 FGF14_GAA Sarah Leigh edited their review of STR: FGF14_GAA: Added comment: FGF14_GAA added to Hereditary neuropathy or pain disorder panel on the recommendation of Alex Rossor (UCL Institute of Neurology), who recommended its promotion to Green.; Changed rating: GREEN
Hereditary neuropathy or pain disorder v5.22 FMR1_CGG Sarah Leigh changed review comment from: FMR1_CGG added to Hereditary neuropathy or pain disorder panel on the recommendation of Alex Rossor (UCL Institute of Neurology).; to: FMR1_CGG added to Hereditary neuropathy or pain disorder panel on the recommendation of Alex Rossor (UCL Institute of Neurology), who recommended its promotion to Green.
Hereditary neuropathy or pain disorder v5.22 FGF14_GAA Sarah Leigh Classified STR: FGF14_GAA as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.22 FGF14_GAA Sarah Leigh Added comment: Comment on list classification: FGF14_GAA is not currently reportable, as the coordinates are not present on the analysis pipeline.
Hereditary neuropathy or pain disorder v5.22 FGF14_GAA Sarah Leigh Str: fgf14_gaa has been classified as Amber List (Moderate Evidence).
Hereditary ataxia with onset in adulthood v6.7 FGF14_GAA Sarah Leigh reviewed STR: FGF14_GAA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy or pain disorder v5.21 FGF14_GAA Sarah Leigh Entity copied from Hereditary ataxia with onset in adulthood v6.7
Hereditary neuropathy or pain disorder v5.21 FGF14_GAA Sarah Leigh STR: FGF14_GAA was added
STR: FGF14_GAA was added to Hereditary neuropathy or pain disorder. Sources: Expert Review Amber
watchlist tags were added to STR: FGF14_GAA.
Mode of inheritance for STR: FGF14_GAA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: FGF14_GAA were set to 36516086; 36493768; 37267898
Phenotypes for STR: FGF14_GAA were set to Spinocerebellar ataxia 27B, late-onset, OMIM: 620174
Penetrance for STR: FGF14_GAA were set to Complete
Hereditary neuropathy or pain disorder v5.20 FMR1_CGG Sarah Leigh Tag Q3_24_promote_green tag was added to STR: FMR1_CGG.
Tag Q3_24_NHS_review tag was added to STR: FMR1_CGG.
Hereditary neuropathy or pain disorder v5.20 FMR1_CGG Sarah Leigh edited their review of STR: FMR1_CGG: Added comment: FMR1_CGG added to Hereditary neuropathy or pain disorder panel on the recommendation of Alex Rossor (UCL Institute of Neurology).; Changed rating: GREEN
Hereditary neuropathy or pain disorder v5.20 FMR1_CGG Sarah Leigh Entity copied from Hereditary neuropathy v1.489
Hereditary neuropathy or pain disorder v5.20 FMR1_CGG Sarah Leigh STR: FMR1_CGG was added
STR: FMR1_CGG was added to Hereditary neuropathy or pain disorder. Sources: NHS GMS,Expert Review Amber,Expert Review
STR tags were added to STR: FMR1_CGG.
Mode of inheritance for STR: FMR1_CGG 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 STR: FMR1_CGG were set to 26212380
Phenotypes for STR: FMR1_CGG were set to Fragile X syndrome, OMIM:300624; Fragile X tremor/ataxia syndrome, OMIM:300623
Arthrogryposis v7.5 MET Dmitrijs Rots gene: MET was added
gene: MET was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: MET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MET were set to PMID: 38429387; 30777867
Phenotypes for gene: MET were set to Arthrogryposis
Penetrance for gene: MET were set to unknown
Mode of pathogenicity for gene: MET was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: MET was set to GREEN
Added comment: Reported a second family case in PMID: 38429387 after PMID: 30777867 with functional evidence in 30777867.
Sources: Literature
CAKUT v1.178 TSHZ3 Dmitrijs Rots reviewed gene: TSHZ3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 39420202; Phenotypes: CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder v5.19 ZFYVE26 Alexander Rossor edited their review of gene: ZFYVE26: Added comment: phenotypically similar to SPG11; Changed publications to: 26492578:27217339: 24833714
Hereditary neuropathy or pain disorder v5.19 XPA Alexander Rossor edited their review of gene: XPA: Added comment: PN seems otbe mostly associated with XPA- Aditional paper attached. Now that R78 inlcudes complex phenotypes should be included; Changed publications to: 2168777: 34627174
Hereditary neuropathy or pain disorder v5.19 TWNK Alexander Rossor edited their review of gene: TWNK: Added comment: Multiple reports of variants cuasing peripheral neuropathy and should be included in R78; Changed publications to: 37932750: 32281099: 32234020: 24061067: 20880070 :
Hereditary neuropathy or pain disorder v5.19 TUBB3 Alexander Rossor edited their review of gene: TUBB3: Added comment: multiple affected individuals - unrelated - should be includedin R78 now that includes complex phenotypes; Changed publications to: 34652576 : 25482575; Changed phenotypes to: ptosis, ophthalmoplegia, exotropia, facial weakness, facial dysmorphisms, and, in most cases, distal congenital joint contractures, and subsequently develop intellectual disabilities, gait disorders with proximal joint contractures, Kallmann syndrome (hypogonadotropic hypogonadism and anosmia), and a progressive peripheral neuropathy during the first decade of life
Hereditary neuropathy or pain disorder v5.19 TTPA Alexander Rossor edited their review of gene: TTPA: Added comment: Eripheral neuropathy well established part of this complex phenotype. Now that R78 inlcudes complex phenotypes this gene should be included; Changed publications to: 24369383
Hereditary neuropathy or pain disorder v5.19 SPAST Alexander Rossor commented on gene: SPAST: 23% have peripheralneuropathy and should therefore be inlcuded in R78 as this now includes complex phenotypes
Hereditary neuropathy or pain disorder v5.19 SOX10 Alexander Rossor edited their review of gene: SOX10: Added comment: now that r78 inclues complex phenotpyes should presumably be included; Changed publications to: 32150337: 29681101: 28328136
Hereditary neuropathy or pain disorder v5.19 PTRH2 Alexander Rossor edited their review of gene: PTRH2: Added comment: Peripheral neuropathy now reportedin multiple unrelated individuals and can be a presenting feature. Shouldbe green and in R78 panel; Changed rating: GREEN; Changed publications to: 25572476, 25558065: 28328138: 31057140: 27129381: 39176129: 38874107
Hereditary neuropathy or pain disorder v5.19 PRNP Alexander Rossor edited their review of gene: PRNP: Added comment: peripheral neuropathy reported as rare presentation of cjd in multiple individuals; Changed publications to: 27716661 : 24224623 : 26768678: 31953922; Changed phenotypes to: cjd, dementia, autonomic neuropathy, sensory neuropathy
Hereditary neuropathy or pain disorder v5.19 POLG Alexander Rossor edited their review of gene: POLG: Added comment: Now R78 includes complex phenotypes this needs to be included as PN well established in POLG disease; Changed publications to: 36703500 : 33791913: 25281868: 38975049; Changed phenotypes to: peripheral neuropathy, CPEO
Hereditary neuropathy or pain disorder v5.19 PHYH Alexander Rossor edited their review of gene: PHYH: Added comment: Refsums disease is a well established (historical) cause of peripheral neuropathy. It is treatable and has to be included in the R78 panel now that it includes complex phenotypes; Changed publications to: 9326940; Changed phenotypes to: Refsums diseasd; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.19 PDHA1 Alexander Rossor edited their review of gene: PDHA1: Added comment: PN in multiple unrelated individuals and therefore should be includedin R78 panel; Changed rating: GREEN; Changed publications to: 38497591: 36693417: 20002125; Changed phenotypes to: peripheral neuropathy, Leigh syndrome
Hereditary neuropathy or pain disorder v5.19 OPA3 Alexander Rossor edited their review of gene: OPA3: Added comment: Peripehral neuropathy reported in multiple unrelated individuals and should be included in panel; Changed publications to: 28050599: 21036400 : 31119193:
Hereditary neuropathy or pain disorder v5.19 NUDT2 Alexander Rossor edited their review of gene: NUDT2: Added comment: Recent publication attached showing peripheral neuropathy in several new unrelated individuals so should therefore be green and included in panel; Changed rating: GREEN
Hereditary neuropathy or pain disorder v5.19 NUDT2 Alexander Rossor changed review comment from: Recent publication attached showing peripheral neuropathy in several new unrelated individuals so should therefore be green and included in panel; to: Recent publication attached showing peripheral neuropathy in several new unrelated individuals so should therefore be green and included in panel
Hereditary neuropathy or pain disorder v5.19 NUDT2 Alexander Rossor reviewed gene: NUDT2: Rating: ; Mode of pathogenicity: None; Publications: 38141063; Phenotypes: developmental delay, neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.19 HADHB Alexander Rossor edited their review of gene: HADHB: Added comment: PN well established part of phenotype. Multiple affected families. Now R78 includes complex phenotypes should be included; Changed publications to: 3744096: 28685493: 31521624: 24664533: 28649548: 35235001 : 37388542; Changed phenotypes to: rhabdomyloysis, hypoparathyroidism, peripheral neuropathy
Hereditary neuropathy or pain disorder v5.19 HADHA Alexander Rossor edited their review of gene: HADHA: Added comment: trifucnctional protein deificeincy, inlcudes peripheral neuropathy. NOw R78 includes complex phenotypes should be included; Changed publications to: 23868323: 28132977: 32897397; Changed phenotypes to: rhabdomyloysis, peripheral neuropathy
Hereditary neuropathy or pain disorder v5.19 GLA Alexander Rossor edited their review of gene: GLA: Added comment: small fibren europathy established feature of Fabrys; Changed publications to: 22428782; Changed phenotypes to: small fibre neuropathy, strokes, cardiomyopathy, skin disease
Hereditary neuropathy or pain disorder v5.19 FLVCR1 Alexander Rossor edited their review of gene: FLVCR1: Added comment: Multiple additional reports of association with neuropathy. Now R78 includes complex phenotypes should be included; Changed publications to: 21070897: 38405817: 32822874: 28766925: 37469134:
Hereditary neuropathy or pain disorder v5.19 FAM126A Alexander Rossor edited their review of gene: FAM126A: Added comment: Multiple unrelated patients with peripheralneuropathy. Now that R78 includes complex phneotypes needs to be included; Changed publications to: 16951682: 23998934: 21911699: 33531944: 22749724:
Hereditary neuropathy or pain disorder v5.19 FAH Alexander Rossor edited their review of gene: FAH: Added comment: Complex phneotypes now included in R78, reference of 25 patients inlcuded; Changed publications to: 33598652
Hereditary neuropathy or pain disorder v5.19 ETFDH Alexander Rossor edited their review of gene: ETFDH: Added comment: multiple families with neuropathy as part of syndrome, Now R78 includes complex phenotypes should be included; Changed publications to: 32608139: 26821934: 0587156
Hereditary neuropathy or pain disorder v5.19 ERCC8 Alexander Rossor edited their review of gene: ERCC8: Added comment: now that R78 includes complex phenotypes sould be included; Changed publications to: 25453614
Hereditary neuropathy or pain disorder v5.19 ERCC6 Alexander Rossor edited their review of gene: ERCC6: Added comment: now that R78 includes complex pheotypes should be included; Changed publications to: 25453614
Hereditary neuropathy or pain disorder v5.19 EMILIN1 Alexander Rossor reviewed gene: EMILIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38963291; Phenotypes: peripheral neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.19 DSTYK Alexander Rossor reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: None; Publications: 28157540; Phenotypes: spastic paraplegia, peripheral neuropathy, grey hair; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.19 DHTKD1 Alexander Rossor commented on gene: DHTKD1: I think this gene should be removed from the panel. The original chinese family reported a lof het allele. LOF is not constrained in DHTKD!, more so recessive LOF variants in DHTKD1 cause Alpha-aminoadipic and alpha-ketoadipic aciduria and these patients do not have a peripheral neuropathy
Hereditary neuropathy or pain disorder v5.19 DARS2 Alexander Rossor edited their review of gene: DARS2: Added comment: Multiple additional unrelated individuals with variants in DARS2 and peripheral neuropathy - should now be green; Changed publications to: 28334938: 38790244: 22677571: 38549004; Changed phenotypes to: Slowly progressive spasticity, ataxia and dorsal column dysfunction, sensory-motor axonal neuropathy, characteristic MRI findings
Hereditary neuropathy or pain disorder v5.19 CTDP1 Alexander Rossor reviewed gene: CTDP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10439962: 29174527: 21824574; Phenotypes: cataratcs, facial dysmorphism, peripheral neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.19 CTDP1 Alexander Rossor Deleted their review
Hereditary neuropathy or pain disorder v5.19 COA7 Alexander Rossor edited their review of gene: COA7: Added comment: Multiple additional cases now reported with peripheral neuropathy - should be green and on panle now that R78 includes complex phenotypes; Changed publications to: 29718187: 37264311: 35603692: 27683825
Hereditary neuropathy or pain disorder v5.19 CNTNAP1 Alexander Rossor edited their review of gene: CNTNAP1: Added comment: Multiple affected individuals. Now that R78 panel includes complex phenotypes should be green and on panel; Changed publications to: 28374019: 29511323: 27668699: 27782105:; Changed phenotypes to: arthrogryposis, developmental dleay, peripheral neuropathy; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.19 CD59 Alexander Rossor edited their review of gene: CD59: Added comment: No wthat the R78 panel includes complex phenotypees with peripheral neuropathy this should now be included in the R78 panel; Changed publications to: 23149847, 24382084
Hereditary neuropathy or pain disorder v5.19 C12orf65 Alexander Rossor edited their review of gene: C12orf65: Added comment: PN in multiple affected individuals from different families; Changed rating: GREEN; Changed publications to: 24080142: 23188110: 6303658: 24424123: 24198383; Changed phenotypes to: optic atrophy, spasticity, peripheral neuropathy; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.19 C12orf65 Alexander Rossor Deleted their comment
Hereditary neuropathy or pain disorder v5.19 BAG3 Alexander Rossor edited their review of gene: BAG3: Added comment: Further reports in assocation with PN since my last review, should now be green; Changed publications to: 30145633: 37989284: 37907725; Changed phenotypes to: cardiomyopathy, polyneuropathy
Hereditary neuropathy or pain disorder v5.19 AP1S1 Alexander Rossor Deleted their review
Hereditary neuropathy or pain disorder v5.19 VPS13D Alexander Rossor gene: VPS13D was added
gene: VPS13D was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: VPS13D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS13D were set to 29518281: 29604224: 14681893: 11960835
Phenotypes for gene: VPS13D were set to ataxia; spasticity; peripheral neuropathy
Penetrance for gene: VPS13D were set to Complete
Review for gene: VPS13D was set to GREEN
Added comment: Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 UQCRC1 Alexander Rossor gene: UQCRC1 was added
gene: UQCRC1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: UQCRC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: UQCRC1 were set to 33141179
Phenotypes for gene: UQCRC1 were set to parkinsonism; peripheral neuropathy
Penetrance for gene: UQCRC1 were set to Complete
Review for gene: UQCRC1 was set to GREEN
Added comment: Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 UCHL1 Alexander Rossor gene: UCHL1 was added
gene: UCHL1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: UCHL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: UCHL1 were set to 35986737
Phenotypes for gene: UCHL1 were set to spasticity; ataxia; peripheral neuropathy
Penetrance for gene: UCHL1 were set to Complete
Hereditary neuropathy or pain disorder v5.19 TRMT5 Alexander Rossor gene: TRMT5 was added
gene: TRMT5 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: TRMT5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRMT5 were set to 35342985: 26189817: 29021354
Phenotypes for gene: TRMT5 were set to develomental delay; spasticity; peripheral neuropathy
Penetrance for gene: TRMT5 were set to Complete
Review for gene: TRMT5 was set to GREEN
Added comment: Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 TBCE Alexander Rossor gene: TBCE was added
gene: TBCE was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBCE were set to 27666369
Phenotypes for gene: TBCE were set to encephalopathy; peripheral neuropathy
Penetrance for gene: TBCE were set to Complete
Review for gene: TBCE was set to GREEN
Added comment: Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 SLC13A3 Alexander Rossor gene: SLC13A3 was added
gene: SLC13A3 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: SLC13A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC13A3 were set to 37290914
Phenotypes for gene: SLC13A3 were set to acute neuropathy
Penetrance for gene: SLC13A3 were set to Complete
Review for gene: SLC13A3 was set to AMBER
Added comment: one patient with neuropathy in literature
Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 SAMD9L Alexander Rossor gene: SAMD9L was added
gene: SAMD9L was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: SAMD9L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SAMD9L were set to ataxia; peripheral neuropathy; pancytopenia
Phenotypes for gene: SAMD9L were set to 32808377: 36553623 : 31053103: 27259050: 28202457
Penetrance for gene: SAMD9L were set to Complete
Review for gene: SAMD9L was set to GREEN
Added comment: Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 PNPT1 Alexander Rossor gene: PNPT1 was added
gene: PNPT1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: PNPT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PNPT1 were set to 35411967: 14705117
Phenotypes for gene: PNPT1 were set to ataxia; peripheral neuropathy
Penetrance for gene: PNPT1 were set to Complete
Review for gene: PNPT1 was set to GREEN
Added comment: Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 PLAA Alexander Rossor gene: PLAA was added
gene: PLAA was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: PLAA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLAA were set to 37919452
Phenotypes for gene: PLAA were set to lipodystrophy; peripheral neuropathy
Penetrance for gene: PLAA were set to Complete
Review for gene: PLAA was set to GREEN
Added comment: gene is PLAAT3
Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 PLA2G6 Alexander Rossor gene: PLA2G6 was added
gene: PLA2G6 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLA2G6 were set to 18443314: 16783378:
Phenotypes for gene: PLA2G6 were set to Neurodegeneration with brain iron accumulation; peripheral neuropathy
Penetrance for gene: PLA2G6 were set to Complete
Review for gene: PLA2G6 was set to GREEN
Added comment: Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 PIEZO2 Alexander Rossor gene: PIEZO2 was added
gene: PIEZO2 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: PIEZO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIEZO2 were set to 27653382
Phenotypes for gene: PIEZO2 were set to arthrodryposis; sensory neuropathy
Penetrance for gene: PIEZO2 were set to Complete
Review for gene: PIEZO2 was set to GREEN
Added comment: Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 NOP56 Alexander Rossor gene: NOP56 was added
gene: NOP56 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: NOP56 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NOP56 were set to 22492559: 22744658: 21683323
Phenotypes for gene: NOP56 were set to ataxia; motor neuropathy
Penetrance for gene: NOP56 were set to Complete
Review for gene: NOP56 was set to GREEN
Added comment: Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 NFASC Alexander Rossor gene: NFASC was added
gene: NFASC was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: NFASC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NFASC were set to 30850329: 30124836
Phenotypes for gene: NFASC were set to Developmental delay; peripheral neuropathy
Penetrance for gene: NFASC were set to Complete
Review for gene: NFASC was set to GREEN
Added comment: Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 NDUFS6 Alexander Rossor gene: NDUFS6 was added
gene: NDUFS6 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: NDUFS6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFS6 were set to 38459834 : 38549004
Phenotypes for gene: NDUFS6 were set to peripheral neuropathy; nystagmus
Penetrance for gene: NDUFS6 were set to Complete
Review for gene: NDUFS6 was set to GREEN
Added comment: Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 NARS Alexander Rossor gene: NARS was added
gene: NARS was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: NARS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NARS were set to 32738225:
Phenotypes for gene: NARS were set to developmental delay; seizures; peripheral neuropathy
Penetrance for gene: NARS were set to Complete
Review for gene: NARS was set to GREEN
Added comment: Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 MAPK8IP3 Alexander Rossor gene: MAPK8IP3 was added
gene: MAPK8IP3 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: MAPK8IP3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MAPK8IP3 were set to 37462082: 30945334
Phenotypes for gene: MAPK8IP3 were set to developmental delay; motor axonal neuropathy
Penetrance for gene: MAPK8IP3 were set to Complete
Review for gene: MAPK8IP3 was set to GREEN
Added comment: Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 HPDL Alexander Rossor gene: HPDL was added
gene: HPDL was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPDL were set to 32707086
Phenotypes for gene: HPDL were set to developmental delay; spastic paraplegia; peripheral neuropathy
Penetrance for gene: HPDL were set to Complete
Review for gene: HPDL was set to GREEN
Added comment: 3 had peripheral neuropathy
Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 FDXR Alexander Rossor gene: FDXR was added
gene: FDXR was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: FDXR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FDXR were set to 37046037: 30250212 :
Phenotypes for gene: FDXR were set to optic neuropathy; auditory neuropathy; peripheral neuropathy
Penetrance for gene: FDXR were set to Complete
Review for gene: FDXR was set to GREEN
Added comment: Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 FA2H Alexander Rossor edited their review of gene: FA2H: Added comment: peripheral neuropathy now reportedin 3 additional patients; Changed rating: GREEN; Changed publications to: 22146942:31135052
Hereditary neuropathy or pain disorder v5.19 EXOSC3 Alexander Rossor gene: EXOSC3 was added
gene: EXOSC3 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC3 were set to 23564332:24524299:25149867:12548734
Phenotypes for gene: EXOSC3 were set to pontocerebellar hypoplasia; motor neuropathy
Penetrance for gene: EXOSC3 were set to Complete
Review for gene: EXOSC3 was set to GREEN
Added comment: Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 MFF Alexander Rossor gene: MFF was added
gene: MFF was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: MFF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MFF were set to 26783368
Phenotypes for gene: MFF were set to encephalopathy; developmental delay; peripheral neuropathy in some
Penetrance for gene: MFF were set to Complete
Review for gene: MFF was set to GREEN
Added comment: Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 DMXL2 Alexander Rossor gene: DMXL2 was added
gene: DMXL2 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: DMXL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DMXL2 were set to 31688942
Phenotypes for gene: DMXL2 were set to developmental encephalopathy; deafness; mild peripheral polyneuropathy; dysmorphic features
Penetrance for gene: DMXL2 were set to Complete
Review for gene: DMXL2 was set to GREEN
Added comment: Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 CYP2U1 Alexander Rossor gene: CYP2U1 was added
gene: CYP2U1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP2U1 were set to 23176821
Phenotypes for gene: CYP2U1 were set to spastic paraplegia; cognitive impairment; subvlincial peripheral neuropathy
Penetrance for gene: CYP2U1 were set to Complete
Review for gene: CYP2U1 was set to GREEN
Added comment: Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 CLP1 Alexander Rossor gene: CLP1 was added
gene: CLP1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLP1 were set to 24766809
Phenotypes for gene: CLP1 were set to pontocerbeelar hypoplasia, peripheral neuropathy
Penetrance for gene: CLP1 were set to Complete
Review for gene: CLP1 was set to GREEN
Added comment: Multiple affected individuals with peripheral neuropathy on ncs
Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 CAPN1 Alexander Rossor gene: CAPN1 was added
gene: CAPN1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: CAPN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAPN1 were set to 27153400
Phenotypes for gene: CAPN1 were set to spasticity; pes cavus; peripheral neuropathy
Penetrance for gene: CAPN1 were set to Complete
Review for gene: CAPN1 was set to GREEN
Added comment: 3 families
Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 DSTYK Alexander Rossor Deleted their review
Intellectual disability v7.61 KIF5B Tracy Lester gene: KIF5B was added
gene: KIF5B was added to Intellectual disability. Sources: NHS GMS
Mode of inheritance for gene: KIF5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF5B were set to 36018820; 35342932
Phenotypes for gene: KIF5B were set to kyphomelic dysplasia; hypotonia; developmental delay; intellectual disability
Penetrance for gene: KIF5B were set to unknown
Review for gene: KIF5B was set to AMBER
Added comment: PMID: 35342932 - 3 de novo missense variants reported in 4 subjects with a syndromic skeletal disorder characterized by kyphomelic dysplasia, hypotonia and DD/ID
PMID: 36018820 - 3 more missense variants reported in individuals with a clinically wide phenotypic spectrum ranging from dilated cardiomyopathy with adult-onset ophthalmoplegia and progressive skeletal myopathy to a neurodevelopmental condition characterized by severe hypotonia with or without seizures. In vitro and in vivo analyses provide evidence that the identified disease-associated KIF5B variants disrupt lysosomal, autophagosome and mitochondrial organization, and impact cilium biogenesis. All variants, and one of the previously reported missense changes, were shown to affect multiple developmental processes in zebrafish.
Sources: NHS GMS
Primary immunodeficiency or monogenic inflammatory bowel disease v6.16 TRAF3 Dmitrijs Rots reviewed gene: TRAF3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35960817; Phenotypes: Immunodeficiency, autoimmunity, and increased risk of B cell malignancy in humans with TRAF3 mutations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v6.16 GNAI2 Dmitrijs Rots gene: GNAI2 was added
gene: GNAI2 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: GNAI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNAI2 were set to PMID: 39298586
Phenotypes for gene: GNAI2 were set to Immunodefficiency with multisystemic presentation
Penetrance for gene: GNAI2 were set to unknown
Mode of pathogenicity for gene: GNAI2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added comment: PMID: 39298586 showed 20 case with "multiorgan dysfunction, with a spectrum of birth defects involving brain, endocrine, skeletal, and other systems. Prominent immune dysregulation resulted from increased infection susceptibility—caused by impaired GPCR signaling for migration of T cells and neutrophils—and life-threatening autoimmunity with T cell hyperresponsiveness." and functional work.
Sources: Literature
Intellectual disability v7.61 GNAI2 Dmitrijs Rots reviewed gene: GNAI2: 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: 39298586; Phenotypes: Immunodefficiency with multisystemic presentation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v6.11 AJAP1 Hannah Knight gene: AJAP1 was added
gene: AJAP1 was added to Early onset or syndromic epilepsy. Sources: Literature
Mode of inheritance for gene: AJAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AJAP1 were set to PMID: 38985877
Phenotypes for gene: AJAP1 were set to Epileptic seizures; developmental disorder; intellectual disability
Review for gene: AJAP1 was set to GREEN
Added comment: PMID: 38985877 (2024) identified five individuals with monoallelic variants or a deletion in AJAP1, who present with epilepsy, neurodevelopmental problems, or intellectual disability
Also included functional work
Sources: Literature
Monogenic hearing loss v4.54 PLCG1 Hannah Knight gene: PLCG1 was added
gene: PLCG1 was added to Monogenic hearing loss. Sources: Literature
Mode of inheritance for gene: PLCG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLCG1 were set to PMID: 38260438
Phenotypes for gene: PLCG1 were set to hearing impairment; ophthalmologic abnormalities; cardiac septal defects
Review for gene: PLCG1 was set to AMBER
Added comment: Limited case info in preprint, but PMID: 38260438 (2024) reported three unrelated individuals with de novo heterozygous missense variants in PLCG1, with symptoms including deafness, ophthalmologic abnormalities, cardiac septal defects, abnormal brain MRI and immune defects
Sources: Literature
Skeletal dysplasia v6.23 TOMM7 Hannah Knight gene: TOMM7 was added
gene: TOMM7 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: TOMM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOMM7 were set to PMID: 36282599; PMID: 36299998
Phenotypes for gene: TOMM7 were set to Garg-Mishra progeroid syndrome; dwarfism; mandibular hypoplasia; microphthalmia; hyperopia; partial lipodystrophy
Review for gene: TOMM7 was set to AMBER
Added comment: PMID: 36282599 (2022) reported a homozygous missense variant in TOMM7 (P29L) in a patient with short stature, dysmorphisms, poor vision, and significant learning disabilities
PMID: 36299998 (2023) reported a homozygous missense variant in TOMM7 (W25R) in a patient with short stature and growth failure

In both cases, parents were tested and found to be heterozygous for the same variant
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v6.16 COPA Dmitrijs Rots reviewed gene: COPA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38175705; Phenotypes: a complex autoinflammatory syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic neuropathy v4.33 MIEF1 Hannah Knight gene: MIEF1 was added
gene: MIEF1 was added to Optic neuropathy. Sources: Literature
Mode of inheritance for gene: MIEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MIEF1 were set to PMID: 33632269
Phenotypes for gene: MIEF1 were set to Optic atrophy 14
Review for gene: MIEF1 was set to AMBER
Added comment: PMID: 33632269 (2021) reported two unrelated women with late-onset optic neuropathy, with heterozygous missense mutations in the MIEF1 gene (Y240N and R146W)
Sources: Literature
Skeletal dysplasia v6.23 BGN Tracy Lester gene: BGN was added
gene: BGN was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: BGN 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: BGN were set to 27236923
Phenotypes for gene: BGN were set to Skeletal dysplasia; Spondyloepimetaphyseal dysplasia
Penetrance for gene: BGN were set to unknown
Review for gene: BGN was set to GREEN
Added comment: Cho et al report on finding missense variants in 3 families with SEMD segregating in an XLR pattern.
'Exome sequencing showed missense mutations in BGN c.439A>G (p.Lys147Glu) in the Korean family and c.776G>T (p.Gly259Val) in the Italian family; the c.439A>G (p.Lys147Glu) mutation was also identified in a further simplex SEMD case from India. Biglycan is an extracellular matrix proteoglycan that can bind transforming growth factor beta (TGF-β) and thus regulate its free concentration. In 3-dimensional simulation, both altered residues localized to the concave arc of leucine-rich repeat domains of biglycan that interact with TGF-β. The observation of recurrent BGN mutations in XLR SEMD individuals from different ethnic backgrounds allows us to define “XLR SEMD, BGN type” as a nosologic entity.'
Sources: NHS GMS
Primary immunodeficiency or monogenic inflammatory bowel disease v6.16 GTF3AP5 Dmitrijs Rots Deleted their review
Primary immunodeficiency or monogenic inflammatory bowel disease v6.16 GTF3AP5 Dmitrijs Rots Deleted their comment
Primary immunodeficiency or monogenic inflammatory bowel disease v6.16 GTF3A Dmitrijs Rots gene: GTF3A was added
gene: GTF3A was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: GTF3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTF3A were set to PMID: 36399538
Phenotypes for gene: GTF3A were set to CVID with HSV encephalitis
Review for gene: GTF3A was set to AMBER
Added comment: PMID: 36399538 describe a case with CVID and HSV encephalitis with functional work. More cases are presented at ESID 2024 (unpublished yet).
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v6.16 GTF3AP5 Dmitrijs Rots gene: GTF3AP5 was added
gene: GTF3AP5 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: GTF3AP5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTF3AP5 were set to PMID: 36399538
Phenotypes for gene: GTF3AP5 were set to PID
Review for gene: GTF3AP5 was set to AMBER
Added comment: PMID: 36399538 describe a case with CVID and HSV encephalitis with functional work. More cases are presented at ESID 2024 (unpublished yet).
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v6.16 REXO2 Dmitrijs Rots gene: REXO2 was added
gene: REXO2 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: REXO2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: REXO2 were set to PMID: 39107301
Penetrance for gene: REXO2 were set to unknown
Mode of pathogenicity for gene: REXO2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: REXO2 was set to AMBER
Added comment: PMID: 39107301 described a de novo variant in a single case with IEI with extensive functional evidence
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v6.16 RELB Dmitrijs Rots reviewed gene: RELB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 39231201; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v7.4 MRPL39 Hannah Knight gene: MRPL39 was added
gene: MRPL39 was added to Mitochondrial disorders. Sources: Literature
Mode of inheritance for gene: MRPL39 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPL39 were set to PMID: 37133451
Phenotypes for gene: MRPL39 were set to Combined oxidative phosphorylation deficiency 59
Review for gene: MRPL39 was set to GREEN
Added comment: PMID: 37133451 (2023) describe three patients with biallelic variants in MRPL39 and paediatric onset mitochondrial disease. Three frameshift variants and one missense variant reported
Sources: Literature
Intellectual disability v7.61 DDX17 Hannah Knight gene: DDX17 was added
gene: DDX17 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: DDX17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DDX17 were set to PMID: 39405200
Phenotypes for gene: DDX17 were set to Intellectual disability; delayed speech and language; motor delay
Review for gene: DDX17 was set to GREEN
Added comment: PMID: 39405200 (2024) - new paper identified 11 patients with de novo, monoallelic variants in DDX17 and neurodevelopmental phenotypes + experimental evidence
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v6.16 IL27RA Dmitrijs Rots reviewed gene: IL27RA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory disorders v2.3 IKBKG Dmitrijs Rots changed review comment from: exon 5 skipping of IKBKG (NEMO) result in autoinflammatory disorder. Already in OMIM: 301081.
Sources: Other; to: exon 5 skipping of IKBKG (NEMO) result in autoinflammatory disorder. Already in OMIM: 301081.
LoF variants causes X-linked incontinentia pigmenti.
Sources: Other.
Autoinflammatory disorders v2.3 IKBKG Dmitrijs Rots gene: IKBKG was added
gene: IKBKG was added to Autoinflammatory disorders. Sources: Other
Mode of inheritance for gene: IKBKG 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: IKBKG were set to PMID: 35289316
Phenotypes for gene: IKBKG were set to Autoinflammatory disease, systemic, X-linked
Penetrance for gene: IKBKG were set to unknown
Mode of pathogenicity for gene: IKBKG was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: IKBKG was set to GREEN
Added comment: exon 5 skipping of IKBKG (NEMO) result in autoinflammatory disorder. Already in OMIM: 301081.
Sources: Other
Hereditary neuropathy or pain disorder v5.19 DHH Alexander Rossor edited their review of gene: DHH: Added comment: Multipel reports of this syndrome causing peripheral neuropathy. Should be added to panel; Changed rating: GREEN; Changed publications to: 29471294: 11891836: 11017805: 25927242: 33107133; Changed phenotypes to: gonadal dysgenesis, peripheral neuropathy; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.19 ATP13A2 Alexander Rossor gene: ATP13A2 was added
gene: ATP13A2 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP13A2 were set to 28137957:
Phenotypes for gene: ATP13A2 were set to spastic paraplegia; cognitive impairment; peripheral neuropathy
Penetrance for gene: ATP13A2 were set to Complete
Review for gene: ATP13A2 was set to GREEN
Added comment: Peripheral neuropathy in individuals from 3 different families
Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 ATM Alexander Rossor edited their review of gene: ATM: Added comment: Should now be included as R78 has extended its scope to include complex phenotypes that include neuropathy such as ataxia telangiectasia; Changed rating: GREEN; Changed publications to: 37553836; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.19 ATL3 Alexander Rossor edited their review of gene: ATL3: Added comment: 3rd indivudla reported with domintant ATL3 and neuropathy; Changed publications to: 30680846
Hereditary neuropathy or pain disorder v5.19 ATAD3A Alexander Rossor gene: ATAD3A was added
gene: ATAD3A was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATAD3A were set to 27640307
Phenotypes for gene: ATAD3A were set to global developmental delay; hypotonia; optic atrophy; axonal neuropathy; hypertrophic cardiomyopathy
Penetrance for gene: ATAD3A were set to Complete
Mode of pathogenicity for gene: ATAD3A was set to Other
Review for gene: ATAD3A was set to GREEN
Added comment: Both de novo and recessive. Multiple unrelated indivudals reported with axonal neuropathy
Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 ASAH1 Alexander Rossor gene: ASAH1 was added
gene: ASAH1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASAH1 were set to 24164096: 12571787: 534421: 22703880
Phenotypes for gene: ASAH1 were set to Progressive myoclonic epilepsy; motor neuropathy
Penetrance for gene: ASAH1 were set to Complete
Review for gene: ASAH1 was set to GREEN
Added comment: multiple affected individuals with peripheral neuropathy
Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 ARSA Alexander Rossor commented on gene: ARSA: Now a broad panel so this gene should be includedin R78
Hereditary neuropathy or pain disorder v5.19 ARL6IP1 Alexander Rossor edited their review of gene: ARL6IP1: Changed rating: GREEN
Hereditary neuropathy or pain disorder v5.19 ARL6IP1 Alexander Rossor changed review comment from: multiple individuals with neuropathy; to: multiple individuals with neuropathy
Hereditary neuropathy or pain disorder v5.19 ARL6IP1 Alexander Rossor reviewed gene: ARL6IP1: Rating: ; Mode of pathogenicity: None; Publications: 28471035: 24482476: 31272422; Phenotypes: Spastic paraplegia, neuropathy; Mode of inheritance: None
Hereditary neuropathy or pain disorder v5.19 ARL6IP1 Alexander Rossor Deleted their review
Hereditary neuropathy or pain disorder v5.19 APTX Alexander Rossor commented on gene: APTX: As per previous comments, complex phenotype, lots of evidence causes neuropathy as submitted i multiuple previous reviews
Hereditary neuropathy or pain disorder v5.19 AP5Z1 Alexander Rossor gene: AP5Z1 was added
gene: AP5Z1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: AP5Z1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP5Z1 were set to 26085577
Phenotypes for gene: AP5Z1 were set to spasticity; ataxia; retinopathy; neuropathy; parkinsonism
Penetrance for gene: AP5Z1 were set to Complete
Review for gene: AP5Z1 was set to AMBER
Added comment: only a single patient with neuropathy
Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 AP1S1 Alexander Rossor commented on gene: AP1S1: Scope of panel has been extended. 4 families with same splice site variant
Hereditary neuropathy or pain disorder v5.19 AMPD2 Alexander Rossor gene: AMPD2 was added
gene: AMPD2 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMPD2 were set to 27066553
Phenotypes for gene: AMPD2 were set to pontocerebellar hypoplasia, axonal neuropathy,
Review for gene: AMPD2 was set to AMBER
Added comment: Neuropathy in two individuals
Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 AAAS Sarah Leigh Tag Q3_24_promote_green tag was added to gene: AAAS.
Tag Q3_24_NHS_review tag was added to gene: AAAS.
Hereditary neuropathy or pain disorder v5.19 AAAS Sarah Leigh reviewed gene: AAAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy or pain disorder v5.19 AAAS Sarah Leigh Publications for gene: AAAS were set to 34796249
Hereditary neuropathy or pain disorder v5.18 AAAS Sarah Leigh Phenotypes for gene: AAAS were changed from ACHALASIA; ADDISONIANISM; ALACRIMA; peripheral neuropathy to Achalasia-addisonianism-alacrimia syndrome, OMIM:231550; Triple-A syndrome, MONDO:0009279
Hereditary neuropathy or pain disorder v5.17 AAAS Sarah Leigh Classified gene: AAAS as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.17 AAAS Sarah Leigh Gene: aaas has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.16 AMACR Alexander Rossor gene: AMACR was added
gene: AMACR was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMACR were set to 21576695; 10655068; 20821052; 18032455
Phenotypes for gene: AMACR were set to cerebellar ataxia; peripheral neuropathy; seizures; cataracts; retinitis pigmentosa
Penetrance for gene: AMACR were set to Complete
Review for gene: AMACR was set to GREEN
Added comment: multipel reports with peripheral neuropathy
Sources: Expert list
Hereditary neuropathy or pain disorder v5.16 ALDH18A1 Alexander Rossor gene: ALDH18A1 was added
gene: ALDH18A1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ALDH18A1 were set to https://doi.org/10.1093/brain/awv143
Phenotypes for gene: ALDH18A1 were set to spastic paraplegia; cognitive impairment; motor neuronopathy
Penetrance for gene: ALDH18A1 were set to Complete
Review for gene: ALDH18A1 was set to AMBER
Added comment: Currently present in several members of two unrelated families
Sources: Expert list
Proteinuric renal disease v4.14 KAT2B Riyaad Aungraheeta reviewed gene: KAT2B: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 39366742; Phenotypes: Steroid-resistant nephrotic syndrome; Mode of inheritance: None
Proteinuric renal disease v4.14 KAT2B Riyaad Aungraheeta Deleted their review
Proteinuric renal disease v4.14 KAT2B Riyaad Aungraheeta gene: KAT2B was added
gene: KAT2B was added to Proteinuric renal disease. Sources: Literature
Mode of inheritance for gene: KAT2B was set to Unknown
Publications for gene: KAT2B were set to PMID: 39366742
Phenotypes for gene: KAT2B were set to Steroid-resistant nephrotic syndrome
Penetrance for gene: KAT2B were set to unknown
Review for gene: KAT2B was set to AMBER
Added comment: Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v6.16 TET2 Sarah Dixon changed review comment from: PMID: 36066697 (2023) presents two additional patients with ALPS-like immune phenotypes. Inheritance pattern is not consistent between cases. Uncertain significance.

P1: lymphoproliferation, cytopenias, and immune dysregulation.
Biallelic truncating variants in TET2 identified, apparently germline, although notably neither variant was maternally inherited (father not available for testing).

P2: autoimmunity and lymphoproliferation
Apparently germline LOF variant in TET2 identified (monoallelic).; to: PMID: 36066697 (2023) presents two additional patients with ALPS-like immune phenotypes. Inheritance pattern is not consistent between cases. Uncertain significance.

P1: lymphoproliferation, cytopenias, and immune dysregulation.
Biallelic truncating variants in TET2 identified, apparently germline, although notably neither variant was maternally inherited (father not available for testing).

P2: autoimmunity and lymphoproliferation
Apparently germline LOF variant in TET2 identified (monoallelic).


PMID: 21803851
Tet2 knockout mouse model develops myeloid malignancy
Cytopenia - NOT Fanconi anaemia v3.34 FASLG Dmitrijs Rots gene: FASLG was added
gene: FASLG was added to Cytopenia - NOT Fanconi anaemia. Sources: Other
Mode of inheritance for gene: FASLG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FASLG were set to ALPS
Penetrance for gene: FASLG were set to Incomplete
Review for gene: FASLG was set to GREEN
Added comment: FASLG pathogenic variants (germline or somatic) causes ALPS, which has a complex phenotype including different cytopenias (mostly autoimmune).
Sources: Other
Cytopenia - NOT Fanconi anaemia v3.34 CASP10 Dmitrijs Rots gene: CASP10 was added
gene: CASP10 was added to Cytopenia - NOT Fanconi anaemia. Sources: Other
Mode of inheritance for gene: CASP10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CASP10 were set to ALPS
Penetrance for gene: CASP10 were set to Incomplete
Review for gene: CASP10 was set to GREEN
Added comment: CASP10 pathogenic variants (germline or somatic) causes ALPS, which has a complex phenotype including different cytopenias (mostly autoimmune).
Sources: Other
Cytopenia - NOT Fanconi anaemia v3.34 FAS Dmitrijs Rots gene: FAS was added
gene: FAS was added to Cytopenia - NOT Fanconi anaemia. Sources: Other
Mode of inheritance for gene: FAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FAS were set to ALPS
Penetrance for gene: FAS were set to Incomplete
Review for gene: FAS was set to GREEN
Added comment: FAS pathogenic variants (germline or somatic) causes ALPS, which has a complex phenotype including different cytopenias (mostly autoimmune).
Sources: Other
Childhood onset hereditary spastic paraplegia v6.7 RINT1 Achchuthan Shanmugasundram Classified gene: RINT1 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v6.7 RINT1 Achchuthan Shanmugasundram Added comment: Comment on list classification: Three unrelated cases and functional evidence are available in support of the association of this gene with early-onset hereditary spastic paraplegia. Hence, this gene can be promoted to green rating in the next GMS update.
Childhood onset hereditary spastic paraplegia v6.7 RINT1 Achchuthan Shanmugasundram Gene: rint1 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v6.6 RINT1 Achchuthan Shanmugasundram Phenotypes for gene: RINT1 were changed from HSP to hereditary spastic paraplegia, MONDO:0019064
Childhood onset hereditary spastic paraplegia v6.5 RINT1 Achchuthan Shanmugasundram Publications for gene: RINT1 were set to PMID: 38990652
Childhood onset hereditary spastic paraplegia v6.4 RINT1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RINT1.
Childhood onset hereditary spastic paraplegia v6.4 RINT1 Achchuthan Shanmugasundram reviewed gene: RINT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 37463447, 38990652; Phenotypes: hereditary spastic paraplegia, MONDO:0019064; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss v4.54 DHRSX Achchuthan Shanmugasundram Phenotypes for gene: DHRSX were changed from congenital disorder of glycosylation, MONDO:0015286; hearing loss disorder, MONDO:0005365 to congenital disorder of glycosylation, MONDO:0015286; hearing loss disorder, MONDO:0005365
Monogenic hearing loss v4.53 DHRSX Achchuthan Shanmugasundram Phenotypes for gene: DHRSX were changed from to congenital disorder of glycosylation, MONDO:0015286; hearing loss disorder, MONDO:0005365
Monogenic hearing loss v4.52 DHRSX Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: DHRSX.
Monogenic hearing loss v4.52 DHRSX Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are three unrelated families reported with intellectual disability and hence there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.; to: Comment on list classification: There are two unrelated families reported with sensorineural hearing loss and hence this gene should be rated amber with current evidence.
Monogenic hearing loss v4.52 DHRSX Achchuthan Shanmugasundram edited their review of gene: DHRSX: Changed rating: AMBER; Changed phenotypes to: congenital disorder of glycosylation, MONDO:0015286, hearing loss disorder, MONDO:0005365
Early onset or syndromic epilepsy v6.11 DHRSX Achchuthan Shanmugasundram Phenotypes for gene: DHRSX were changed from congenital disorder of glycosylation, MONDO:0015286; epilepsy, MONDO:0005027 to congenital disorder of glycosylation, MONDO:0015286; epilepsy, MONDO:0005027
Early onset or syndromic epilepsy v6.11 DHRSX Achchuthan Shanmugasundram Phenotypes for gene: DHRSX were changed from to congenital disorder of glycosylation, MONDO:0015286; epilepsy, MONDO:0005027
Early onset or syndromic epilepsy v6.10 DHRSX Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: DHRSX.
Early onset or syndromic epilepsy v6.10 DHRSX Achchuthan Shanmugasundram edited their review of gene: DHRSX: Changed rating: AMBER
Early onset or syndromic epilepsy v6.10 DHRSX Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are three unrelated families reported with intellectual disability and hence there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.; to: Comment on list classification: There are two unrelated families reported with epilepsy and hence this gene should be promoted to amber.
Early onset or syndromic epilepsy v6.10 DHRSX Achchuthan Shanmugasundram edited their review of gene: DHRSX: Changed phenotypes to: congenital disorder of glycosylation, MONDO:0015286, epilepsy, MONDO:0005027
Congenital disorders of glycosylation v6.7 DHRSX Achchuthan Shanmugasundram edited their review of gene: DHRSX: Changed phenotypes to: congenital disorder of glycosylation, MONDO:0015286
Congenital disorders of glycosylation v6.7 DHRSX Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are three unrelated families reported with intellectual disability and hence there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.; to: Comment on list classification: There is sufficient evidence available (three unrelated cases and functional evidence) for the promotion of this gene to green rating in the next GMS update.
Intellectual disability v7.61 DHRSX Achchuthan Shanmugasundram Phenotypes for gene: DHRSX were changed from to congenital disorder of glycosylation, MONDO:0015286; intellectual disability, MONDO:0001071
Congenital disorders of glycosylation v6.7 DHRSX Achchuthan Shanmugasundram Phenotypes for gene: DHRSX were changed from to congenital disorder of glycosylation, MONDO:0015286
Monogenic hearing loss v4.52 DHRSX Achchuthan Shanmugasundram Entity copied from Intellectual disability v7.60
Monogenic hearing loss v4.52 DHRSX Achchuthan Shanmugasundram gene: DHRSX was added
gene: DHRSX was added to Monogenic hearing loss. Sources: Expert Review Amber
Q3_24_promote_green, Pseudoautosomal region 1 tags were added to gene: DHRSX.
Mode of inheritance for gene: DHRSX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHRSX were set to 38821050
Penetrance for gene: DHRSX were set to Complete
Congenital disorders of glycosylation v6.6 DHRSX Achchuthan Shanmugasundram Entity copied from Intellectual disability v7.60
Congenital disorders of glycosylation v6.6 DHRSX Achchuthan Shanmugasundram gene: DHRSX was added
gene: DHRSX was added to Congenital disorders of glycosylation. Sources: Expert Review Amber
Q3_24_promote_green, Pseudoautosomal region 1 tags were added to gene: DHRSX.
Mode of inheritance for gene: DHRSX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHRSX were set to 38821050
Penetrance for gene: DHRSX were set to Complete
Early onset or syndromic epilepsy v6.10 DHRSX Achchuthan Shanmugasundram Entity copied from Intellectual disability v7.60
Early onset or syndromic epilepsy v6.10 DHRSX Achchuthan Shanmugasundram gene: DHRSX was added
gene: DHRSX was added to Early onset or syndromic epilepsy. Sources: Expert Review Amber
Q3_24_promote_green, Pseudoautosomal region 1 tags were added to gene: DHRSX.
Mode of inheritance for gene: DHRSX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHRSX were set to 38821050
Penetrance for gene: DHRSX were set to Complete
Intellectual disability v7.60 DHRSX Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence available (three unrelated families) for the promotion of this gene to green rating in the next GMS update.; to: Comment on list classification: There are three unrelated families reported with intellectual disability and hence there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Intellectual disability v7.60 DHRSX Achchuthan Shanmugasundram Classified gene: DHRSX as Amber List (moderate evidence)
Intellectual disability v7.60 DHRSX Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (three unrelated families) for the promotion of this gene to green rating in the next GMS update.
Intellectual disability v7.60 DHRSX Achchuthan Shanmugasundram Gene: dhrsx has been classified as Amber List (Moderate Evidence).
Intellectual disability v7.59 DHRSX Achchuthan Shanmugasundram Publications for gene: DHRSX were set to
Intellectual disability v7.58 DHRSX Achchuthan Shanmugasundram Mode of inheritance for gene: DHRSX was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v7.58 DHRSX Achchuthan Shanmugasundram Mode of inheritance for gene: DHRSX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v7.57 DHRSX Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: DHRSX.
Intellectual disability v7.57 DHRSX Achchuthan Shanmugasundram changed review comment from: PMID:38821050 reported the identification of biallelic missense variants in DHRSX gene in four patients from three unrelated families with a congenital disorder of glycosylation. They displayed distinct facial features, severe neurological involvement including hypotonia, scoliosis, contractures, profound intellectual disability, epilepsy, and sensorineural hearing loss. These patients also experienced severe failure to thrive (requiring tube feeding); variable respiratory insufficiency; and involvement of the eyes, the gastrointestinal system, and other organs.

This gene has not yet been associated with any relevant phenotypes in OMIM or in Gene2Phenotype.; to: PMID:38821050 reported the identification of biallelic missense variants in DHRSX gene in four patients from three unrelated families with a congenital disorder of glycosylation. They displayed distinct facial features, severe neurological involvement including hypotonia, scoliosis, contractures, profound intellectual disability, epilepsy, and sensorineural hearing loss. These patients also experienced severe failure to thrive (requiring tube feeding); variable respiratory insufficiency; and involvement of the eyes, the gastrointestinal system, and other organs.

This gene has not yet been associated with any relevant phenotypes in OMIM or in Gene2Phenotype.
Intellectual disability v7.57 DHRSX Achchuthan Shanmugasundram reviewed gene: DHRSX: Rating: GREEN; Mode of pathogenicity: None; Publications: 38821050; Phenotypes: congenital disorder of glycosylation, MONDO:0015286, intellectual disability, MONDO:0001071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v5.2 ABCD1 Sarah Leigh Tag Q3_24_NHS_review tag was added to gene: ABCD1.
Tag Q3_24_MOI tag was added to gene: ABCD1.
Adult onset leukodystrophy v5.2 ABCD1 Sarah Leigh reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; 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)
Adult onset leukodystrophy v5.2 ABCD1 Sarah Leigh Phenotypes for gene: ABCD1 were changed from Adrenoleukodystrophy, Adrenomyeloneuropathy, adult, 300100 to Adrenoleukodystrophy, Adrenomyeloneuropathy, adult, OMIM:300100
Hereditary neuropathy or pain disorder v5.16 AFG3L2 Alexander Rossor gene: AFG3L2 was added
gene: AFG3L2 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: AFG3L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: AFG3L2 were set to 22022284:
Phenotypes for gene: AFG3L2 were set to spasticity, peripheral neuropathy, ptosis, oculomotor apraxia; dystonia; cerebellar atrophy; progressive myoclonic epilepsy
Penetrance for gene: AFG3L2 were set to Complete
Review for gene: AFG3L2 was set to AMBER
Added comment: I think Amber, only a single family
Sources: Expert list
Hereditary neuropathy or pain disorder v5.16 ADPRHL2 Alexander Rossor gene: ADPRHL2 was added
gene: ADPRHL2 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: ADPRHL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADPRHL2 were set to 30401461: 30100084
Phenotypes for gene: ADPRHL2 were set to Neurodegeneration; childhood-onset; ataxia; seizure; axonal polyneuropathy
Penetrance for gene: ADPRHL2 were set to Complete
Review for gene: ADPRHL2 was set to GREEN
Added comment: Sources: Expert list
Hereditary neuropathy or pain disorder v5.16 ADGRG6 Alexander Rossor gene: ADGRG6 was added
gene: ADGRG6 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: ADGRG6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADGRG6 were set to 26004201
Phenotypes for gene: ADGRG6 were set to lethal congenital contracture syndrome; lack of peripheral myelination
Penetrance for gene: ADGRG6 were set to Complete
Review for gene: ADGRG6 was set to GREEN
Added comment: 4 individuals, 3 unrelated families, absence of myelinated axons on post mortem
Sources: Expert list
Hereditary neuropathy or pain disorder v5.16 ADCY6 Alexander Rossor gene: ADCY6 was added
gene: ADCY6 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: ADCY6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADCY6 were set to 31846058: 26257172: 24319099
Phenotypes for gene: ADCY6 were set to lethal congenital contracture syndrome; loss of axons
Penetrance for gene: ADCY6 were set to Complete
Review for gene: ADCY6 was set to GREEN
Added comment: Sources: Expert list
Hereditary neuropathy or pain disorder v5.16 ADA2 Alexander Rossor gene: ADA2 was added
gene: ADA2 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADA2 were set to 34210540:37584090
Phenotypes for gene: ADA2 were set to VASCULITIS; AUTOINFLAMMATION; IMMUNODEFICIENCY; HEMATOLOGIC DEFECTS; peripheral neuropathy; stroke
Penetrance for gene: ADA2 were set to Complete
Review for gene: ADA2 was set to GREEN
Added comment: Sources: Expert list
Hereditary neuropathy or pain disorder v5.16 ABCD1 Alexander Rossor gene: ABCD1 was added
gene: ABCD1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: ABCD1 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: ABCD1 were set to https://doi.org/10.1093/brain/awt361
Phenotypes for gene: ABCD1 were set to adreno leukodystrophy; adrenomyeloneuropathy
Penetrance for gene: ABCD1 were set to Complete
Review for gene: ABCD1 was set to GREEN
Added comment: Peripheral neuropathy in 50% female carriers
Sources: Expert list
Hereditary neuropathy or pain disorder v5.16 AAAS Alexander Rossor gene: AAAS was added
gene: AAAS was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AAAS were set to 34796249
Phenotypes for gene: AAAS were set to ACHALASIA; ADDISONIANISM; ALACRIMA; peripheral neuropathy
Penetrance for gene: AAAS were set to Complete
Review for gene: AAAS was set to GREEN
Added comment: Sources: Expert list
Multi locus imprinting disorders v1.6 OOEP Dmitrijs Rots gene: OOEP was added
gene: OOEP was added to Multi locus imprinting disorders. Sources: Expert list
Mode of inheritance for gene: OOEP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OOEP were set to PMID: 39090763
Phenotypes for gene: OOEP were set to MLID
Penetrance for gene: OOEP were set to unknown
Review for gene: OOEP was set to GREEN
Added comment: Included in the guidelines for MLID:PMID: 39090763
Sources: Expert list
Multi locus imprinting disorders v1.6 ZFP57 Dmitrijs Rots gene: ZFP57 was added
gene: ZFP57 was added to Multi locus imprinting disorders. Sources: Expert list
Mode of inheritance for gene: ZFP57 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZFP57 were set to PMID: 39090763
Phenotypes for gene: ZFP57 were set to MLID
Penetrance for gene: ZFP57 were set to unknown
Review for gene: ZFP57 was set to GREEN
Added comment: included in the guidelines PMID: 39090763
Sources: Expert list
Fetal anomalies v4.198 SCN4A Sarah Graham reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Classic congenital myopathy-22A, 620351, Severe fetal congenital myopathy-22B, 620369; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v4.198 SCN4A Sarah Graham Deleted their review
Fetal anomalies v4.198 SCN4A Sarah Graham reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Classic congenital myopathy-22A, 620351, Severe fetal congenital myopathy-22B, 620369; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Undiagnosed metabolic disorders v1.623 GDAP1 Dmitrijs Rots reviewed gene: GDAP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v6.19 GDAP1 Dmitrijs Rots reviewed gene: GDAP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v6.16 ITPR3 Achchuthan Shanmugasundram Classified gene: ITPR3 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v6.16 ITPR3 Achchuthan Shanmugasundram Added comment: Comment on list classification: The availability of four unrelated cases reported with the same de novo dominant-negative variant and supporting functional studies for this variant provides sufficient evidence for monoallelic MOI.

The presence of two unrelated cases reported with compound heterozygous variants and supporting functional work provides sufficient evidence for biallelic MOI.

Hence, the MOI was set to "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" and the gene has been recommended for promotion to green rating in the next GMS update.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.16 ITPR3 Achchuthan Shanmugasundram Gene: itpr3 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v6.15 ITPR3 Achchuthan Shanmugasundram Phenotypes for gene: ITPR3 were changed from Multisystemic to combined immunodeficiency, MONDO:0015131
Primary immunodeficiency or monogenic inflammatory bowel disease v6.14 ITPR3 Achchuthan Shanmugasundram Publications for gene: ITPR3 were set to PMID: 39270020
Primary immunodeficiency or monogenic inflammatory bowel disease v6.13 ITPR3 Achchuthan Shanmugasundram edited their review of gene: ITPR3: Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Primary immunodeficiency or monogenic inflammatory bowel disease v6.13 ITPR3 Achchuthan Shanmugasundram Mode of inheritance for gene: ITPR3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v6.12 ITPR3 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: ITPR3.
Tag Q3_24_promote_green tag was added to gene: ITPR3.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.12 ITPR3 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: ITPR3.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.12 ITPR3 Achchuthan Shanmugasundram changed review comment from: PMID:36302985 reported the identification of three different ITPR3 variants in two unrelated male patients at compound heterozygous state. The 12-year-old patient presented with combined immunodeficiency with profoundly low numbers of B and T cells and required hematopoietic stem cell transplantation (HSCT) at the age of 6 years. The 36-year-old patient resented with recurring immune thrombocytopenia (ITP), requiring splenectomy at the age of 19 years. He subsequently suffered from autoimmune hemolytic anemia, susceptibility to infections, and enteropathy. Hypogammaglobulinemia and low numbers of switched memory B cells led to a diagnosis of CVID and monthly treatment with intravenous immunoglobulin. The patient did not show signs of neuromuscular disorder. Functional work demonstrated that these variants impaired IP3-mediated Ca2+ responses in vitro, translating into deficient T-cell activation and proliferation.

PMID:39270020 reported the identification of the same ITPR3 de novo variant (p.Arg2524Cys) in four unrelated patients and they presented with a complex syndromic immunodeficiency with variable multisystemic manifestations including ectodermal dysplasia, Charcot-Marie-Tooth disease, short stature, and bone marrow failure. Functional studies in patient-derived cells and gene-edited Jurkat cell lines confirmed that this variant alone is responsible for and capable of disturbing intracellular calcium homeostasis and hence ultimately the clinical phenotype. In addition, functional work also showed that this variant exhibits a dominant-negative effect.; to: PMID:36302985 reported the identification of three different ITPR3 variants in two unrelated male patients at compound heterozygous state. The 12-year-old patient presented with combined immunodeficiency with profoundly low numbers of B and T cells and required hematopoietic stem cell transplantation (HSCT) at the age of 6 years. The 36-year-old patient resented with recurring immune thrombocytopenia (ITP), requiring splenectomy at the age of 19 years. He subsequently suffered from autoimmune hemolytic anemia, susceptibility to infections, and enteropathy. Hypogammaglobulinemia and low numbers of switched memory B cells led to a diagnosis of CVID and monthly treatment with intravenous immunoglobulin. The patient did not show signs of neuromuscular disorder. Functional work demonstrated that these variants impaired IP3-mediated Ca2+ responses in vitro, translating into deficient T-cell activation and proliferation.

PMID:39270020 reported the identification of the same ITPR3 de novo variant (p.Arg2524Cys) in four unrelated patients and they presented with a complex syndromic immunodeficiency with variable multisystemic manifestations including ectodermal dysplasia, Charcot-Marie-Tooth disease, short stature, and bone marrow failure. Functional studies in patient-derived cells and gene-edited Jurkat cell lines confirmed that this variant alone is responsible for and capable of disturbing intracellular calcium homeostasis and hence ultimately the clinical phenotype. In addition, functional work also showed that this variant exhibits a dominant-negative effect.

Neither monoallelic nor biallelic variants in this gene has been associated with immunodeficiency phenotypes either in OMIM or in Gene2Phenotype.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.12 ITPR3 Achchuthan Shanmugasundram changed review comment from: PMID:36302985 reported the identification of three different ITPR3 variants in two unrelated male patients at compound heterozygous state. The 12-year-old patient presented with combined immunodeficiency with profoundly low numbers of B and T cells and required hematopoietic stem cell transplantation (HSCT) at the age of 6 years. The 36-year-old patient resented with recurring immune thrombocytopenia (ITP), requiring splenectomy at the age of 19 years. He subsequently suffered from autoimmune hemolytic anemia, susceptibility to infections, and enteropathy. Hypogammaglobulinemia and low numbers of switched memory B cells led to a diagnosis of CVID and monthly treatment with intravenous immunoglobulin. The patient did not show signs of neuromuscular disorder. Functional work demonstrated that these variants impaired IP3-mediated Ca2+ responses in vitro, translating into deficient T-cell activation and proliferation.

PMID:39270020 reported the identification of the same ITPR3 de novo variant (p.Arg2524Cys) in four unrelated patients and they presented with a complex syndromic immunodeficiency with variable multisystemic manifestations including ectodermal dysplasia, Charcot-Marie-Tooth disease, short stature, and bone marrow failure. Functional studies in patient-derived cells and gene-edited Jurkat cell lines confirmed that this variant alone is responsible for and capable of disturbing intracellular calcium homeostasis and hence ultimately the clinical phenotype. In addition, functional work also showed that; to: PMID:36302985 reported the identification of three different ITPR3 variants in two unrelated male patients at compound heterozygous state. The 12-year-old patient presented with combined immunodeficiency with profoundly low numbers of B and T cells and required hematopoietic stem cell transplantation (HSCT) at the age of 6 years. The 36-year-old patient resented with recurring immune thrombocytopenia (ITP), requiring splenectomy at the age of 19 years. He subsequently suffered from autoimmune hemolytic anemia, susceptibility to infections, and enteropathy. Hypogammaglobulinemia and low numbers of switched memory B cells led to a diagnosis of CVID and monthly treatment with intravenous immunoglobulin. The patient did not show signs of neuromuscular disorder. Functional work demonstrated that these variants impaired IP3-mediated Ca2+ responses in vitro, translating into deficient T-cell activation and proliferation.

PMID:39270020 reported the identification of the same ITPR3 de novo variant (p.Arg2524Cys) in four unrelated patients and they presented with a complex syndromic immunodeficiency with variable multisystemic manifestations including ectodermal dysplasia, Charcot-Marie-Tooth disease, short stature, and bone marrow failure. Functional studies in patient-derived cells and gene-edited Jurkat cell lines confirmed that this variant alone is responsible for and capable of disturbing intracellular calcium homeostasis and hence ultimately the clinical phenotype. In addition, functional work also showed that this variant exhibits a dominant-negative effect.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.12 ITPR3 Achchuthan Shanmugasundram reviewed gene: ITPR3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36302985, 39270020; Phenotypes: combined immunodeficiency, MONDO:0015131; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.198 SIRT6 Dmitrijs Rots gene: SIRT6 was added
gene: SIRT6 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SIRT6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SIRT6 were set to PMID: 29555651
Penetrance for gene: SIRT6 were set to Complete
Review for gene: SIRT6 was set to GREEN
Added comment: The paper describes:"Here, we demonstrate that a homozygous inactivating mutation in the histone deacetylase SIRT6 results in severe congenital anomalies and perinatal lethality in four affected fetuses. " + functional data --> enough evidence for the green rating
Sources: Literature
Clefting v6.3 XYLT1 Sarah Leigh Phenotypes for gene: XYLT1 were changed from DESBUQUOIS DYSPLASIA 2; DBQD2 to Desbuquois dysplasia 2, OMIM:615777; Desbuquois dysplasia 2, MONDO:0014343
Likely inborn error of metabolism v6.19 XYLT1 Sarah Leigh Phenotypes for gene: XYLT1 were changed from Desbuquois dysplasia 2, 615777 to Desbuquois dysplasia 2, OMIM:615777; Desbuquois dysplasia 2, MONDO:0014343
Fetal anomalies v4.198 XYLT1 Sarah Leigh Phenotypes for gene: XYLT1 were changed from DESBUQUOIS DYSPLASIA 2 to Desbuquois dysplasia 2, OMIM:615777; Desbuquois dysplasia 2, MONDO:0014343
Undiagnosed metabolic disorders v1.623 XYLT1 Sarah Leigh Phenotypes for gene: XYLT1 were changed from Desbuquois dysplasia 2, 615777 to Desbuquois dysplasia 2, OMIM:615777; Desbuquois dysplasia 2, MONDO:0014343
Intellectual disability v7.57 XYLT1 Sarah Leigh Phenotypes for gene: XYLT1 were changed from Desbuquois dysplasia 2, 615777 to Desbuquois dysplasia 2, OMIM:615777; Desbuquois dysplasia 2, MONDO:0014343
Childhood onset dystonia, chorea or related movement disorder v5.6 XYLT1 Sarah Leigh Phenotypes for gene: XYLT1 were changed from to Desbuquois dysplasia 2, OMIM:615777; Desbuquois dysplasia 2, MONDO:0014343
Childhood onset dystonia, chorea or related movement disorder v5.5 XYLT1 Sarah Leigh commented on gene: XYLT1
Intellectual disability v7.56 XYLT1 Sarah Leigh edited their review of gene: XYLT1: Added comment: There is enough evidence for XYLT1_GGC to be green on this panel. At least ten patients from at least eight families have either homozygous or compound heterozygous (with other XYLT1 variants) XYLT1_GGC expansions (PMID: 22711505;30554721).; Changed rating: GREEN
Clefting v6.2 XYLT1 Sarah Leigh reviewed gene: XYLT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
DDG2P v4.15 XYLT1 Sarah Leigh reviewed gene: XYLT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v4.197 XYLT1 Sarah Leigh commented on gene: XYLT1: There is enough evidence for XYLT1_GGC to be green on this panel. At least ten patients from at least eight families have either homozygous or compound heterozygous (with other XYLT1 variants) XYLT1_GGC expansions (PMID: 22711505;30554721).
Fetal anomalies v4.197 XYLT1 Sarah Leigh reviewed gene: XYLT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Likely inborn error of metabolism v6.18 XYLT1 Sarah Leigh reviewed gene: XYLT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Undiagnosed metabolic disorders v1.622 XYLT1 Sarah Leigh reviewed gene: XYLT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital disorders of glycosylation v6.5 XYLT1 Sarah Leigh edited their review of gene: XYLT1: Added comment: There is enough evidence for XYLT1_GGC to be green on this panel. At least ten patients from at least eight families have either homozygous or compound heterozygous (with other XYLT1 variants) XYLT1_GGC expansions (PMID: 22711505;30554721).; Changed rating: GREEN
Skeletal dysplasia v6.23 XYLT1 Sarah Leigh edited their review of gene: XYLT1: Added comment: There is enough evidence for XYLT1_GGC to be green on this panel. At least ten patients from at least eight families have either homozygous or compound heterozygous (with other XYLT1 variants) XYLT1_GGC expansions (PMID: 22711505;30554721).; Changed rating: GREEN
Skeletal dysplasia v6.23 XYLT1 Sarah Leigh Phenotypes for gene: XYLT1 were changed from Desbuquois dysplasia 2, 615777 to Desbuquois dysplasia 2, OMIM:615777; Desbuquois dysplasia 2, MONDO:0014343
Skeletal dysplasia v6.22 XYLT1 Sarah Leigh Publications for gene: XYLT1 were set to
Intellectual disability v7.56 XYLT1 Sarah Leigh Publications for gene: XYLT1 were set to 24581741; 22711505; 23982343
Childhood onset dystonia, chorea or related movement disorder v5.5 XYLT1 Sarah Leigh Publications for gene: XYLT1 were set to
Clefting v6.2 XYLT1 Sarah Leigh Publications for gene: XYLT1 were set to
DDG2P v4.15 XYLT1 Sarah Leigh Publications for gene: XYLT1 were set to 24581741; 30554721
Likely inborn error of metabolism v6.18 XYLT1 Sarah Leigh Publications for gene: XYLT1 were set to 23982343; 24581741
Fetal anomalies v4.197 XYLT1 Sarah Leigh Publications for gene: XYLT1 were set to
Undiagnosed metabolic disorders v1.622 XYLT1 Sarah Leigh Publications for gene: XYLT1 were set to
Congenital disorders of glycosylation v6.5 XYLT1 Sarah Leigh Publications for gene: XYLT1 were set to 23982343; 24581741
Skeletal dysplasia v6.21 XYLT1 Sarah Leigh Tag STR tag was added to gene: XYLT1.
Childhood onset dystonia, chorea or related movement disorder v5.4 XYLT1 Sarah Leigh Tag STR tag was added to gene: XYLT1.
Intellectual disability v7.55 XYLT1 Sarah Leigh Tag STR tag was added to gene: XYLT1.
Clefting v6.1 XYLT1 Sarah Leigh Tag STR tag was added to gene: XYLT1.
DDG2P v4.14 XYLT1 Sarah Leigh Tag STR tag was added to gene: XYLT1.
Fetal anomalies v4.196 XYLT1 Sarah Leigh Tag STR tag was added to gene: XYLT1.
Likely inborn error of metabolism v6.17 XYLT1 Sarah Leigh Tag STR tag was added to gene: XYLT1.
Undiagnosed metabolic disorders v1.621 XYLT1 Sarah Leigh Tag STR tag was added to gene: XYLT1.
Congenital disorders of glycosylation v6.4 XYLT1 Sarah Leigh Tag STR tag was added to gene: XYLT1.
Likely inborn error of metabolism v6.17 LFNG Achchuthan Shanmugasundram Classified gene: LFNG as Amber List (moderate evidence)
Likely inborn error of metabolism v6.17 LFNG Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Likely inborn error of metabolism v6.17 LFNG Achchuthan Shanmugasundram Gene: lfng has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism v6.16 LFNG Achchuthan Shanmugasundram Phenotypes for gene: LFNG were changed from O-fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); ?Spondylocostal dysostosis 3, autosomal recessive 609813; ?Spondylocostal dysostosis 3, autosomal recessive, 609813; LFNG-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) to Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813; O-fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Likely inborn error of metabolism v6.15 LFNG Achchuthan Shanmugasundram Publications for gene: LFNG were set to 16385447; 29459493; 30196550; 30531807; 33728697; 34645488; 37038048; 38565611
Likely inborn error of metabolism v6.15 LFNG Achchuthan Shanmugasundram Publications for gene: LFNG were set to 16385447
Likely inborn error of metabolism v6.14 LFNG Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: LFNG.
Likely inborn error of metabolism v6.14 LFNG Achchuthan Shanmugasundram reviewed gene: LFNG: Rating: GREEN; Mode of pathogenicity: None; Publications: 16385447, 29459493, 30196550, 30531807, 33728697, 34645488, 37038048, 38565611; Phenotypes: Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v6.21 LFNG Achchuthan Shanmugasundram Deleted their comment
Skeletal dysplasia v6.21 LFNG Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in both OMIM (MIM #609813) and Gene2Phenotype (with 'definitive' rating on DD and Skeletal panels).
Skeletal dysplasia v6.21 LFNG Achchuthan Shanmugasundram Phenotypes for gene: LFNG were changed from Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813 to Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813
Skeletal dysplasia v6.21 LFNG Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in both OMIM (MIM #609813) and Gene2Phenotype (with 'definitive' rating on DD and Skeletal panels).
Skeletal dysplasia v6.21 LFNG Achchuthan Shanmugasundram Phenotypes for gene: LFNG were changed from Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813 to Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813
Congenital disorders of glycosylation v6.4 LFNG Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: LFNG.
Congenital disorders of glycosylation v6.4 LFNG Achchuthan Shanmugasundram Classified gene: LFNG as Amber List (moderate evidence)
Congenital disorders of glycosylation v6.4 LFNG Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Congenital disorders of glycosylation v6.4 LFNG Achchuthan Shanmugasundram Gene: lfng has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v6.3 LFNG Achchuthan Shanmugasundram Phenotypes for gene: LFNG were changed from ?Spondylocostal dysostosis 3, autosomal recessive 609813; O-fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) to Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813; O-fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Congenital disorders of glycosylation v6.2 LFNG Achchuthan Shanmugasundram Publications for gene: LFNG were set to 16385447
Congenital disorders of glycosylation v6.1 LFNG Achchuthan Shanmugasundram changed review comment from: LFNG encodes a fucose-specific beta-1,3-N-acetylglucosaminyltransferase that modifies Notch receptors and alters Notch signaling activity.

There are more than 10 unrelated cases reported with Spondylocostal dysostosis and with biallelic LFNG variants (either homozygous or compound heterozygous).

This gene has been associated with relevant phenotypes in both OMIM (MIM #609813) and Gene2Phenotype (with 'definitive' rating on DD and Skeletal panels); to: LFNG encodes a fucose-specific beta-1,3-N-acetylglucosaminyltransferase that modifies Notch receptors and alters Notch signaling activity.

There are more than 10 unrelated cases reported with Spondylocostal dysostosis and with biallelic LFNG variants (either homozygous or compound heterozygous).

This gene has been associated with relevant phenotypes in both OMIM (MIM #609813) and Gene2Phenotype (with 'definitive' rating on DD and Skeletal panels).
Congenital disorders of glycosylation v6.1 LFNG Achchuthan Shanmugasundram commented on gene: LFNG: LFNG encodes a fucose-specific beta-1,3-N-acetylglucosaminyltransferase that modifies Notch receptors and alters Notch signaling activity.

There are more than 10 unrelated cases reported with Spondylocostal dysostosis and with biallelic LFNG variants (either homozygous or compound heterozygous).

This gene has been associated with relevant phenotypes in both OMIM (MIM #609813) and Gene2Phenotype (with 'definitive' rating on DD and Skeletal panels)
Congenital disorders of glycosylation v6.1 LFNG Achchuthan Shanmugasundram reviewed gene: LFNG: Rating: GREEN; Mode of pathogenicity: None; Publications: 16385447, 29459493, 30196550, 30531807, 33728697, 34645488, 37038048, 38565611; Phenotypes: Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.196 LFNG Achchuthan Shanmugasundram Phenotypes for gene: LFNG were changed from SPONDYLOCOSTAL DYSOSTOSIS TYPE 3 to Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813
Skeletal dysplasia v6.20 LFNG Achchuthan Shanmugasundram Classified gene: LFNG as Amber List (moderate evidence)
Skeletal dysplasia v6.20 LFNG Achchuthan Shanmugasundram Added comment: Comment on list classification: There are more than 10 unrelated cases reported with Spondylocostal dysostosis and with biallelic LFNG variants (either homozygous or compound heterozygous). Hence, this gene can be promoted to green rating in the next GMS update.
Skeletal dysplasia v6.20 LFNG Achchuthan Shanmugasundram Gene: lfng has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v6.19 LFNG Achchuthan Shanmugasundram Publications for gene: LFNG were set to 16385447; 29459493; 30196550; 30531807; 33728697; 34645488; 37038048; 38565611
Skeletal dysplasia v6.19 LFNG Achchuthan Shanmugasundram Publications for gene: LFNG were set to 16385447; 29459493; 30196550; 30531807; 33728697; 37038048; 38565611
Skeletal dysplasia v6.18 LFNG Achchuthan Shanmugasundram edited their review of gene: LFNG: Changed publications to: 16385447, 29459493, 30196550, 30531807, 33728697, 34645488, 37038048, 38565611
Skeletal dysplasia v6.18 LFNG Achchuthan Shanmugasundram Phenotypes for gene: LFNG were changed from Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813 to Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813
Skeletal dysplasia v6.18 LFNG Achchuthan Shanmugasundram Phenotypes for gene: LFNG were changed from Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813 to Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813
Skeletal dysplasia v6.18 LFNG Achchuthan Shanmugasundram Phenotypes for gene: LFNG were changed from Spondylocostal dysostosis 3, autosomal recessive 609813 to Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813
Skeletal dysplasia v6.17 LFNG Achchuthan Shanmugasundram Publications for gene: LFNG were set to 16385447; 29459493; 30196550; 30531807; 33728697; 37038048; 38565611
Skeletal dysplasia v6.17 LFNG Achchuthan Shanmugasundram Publications for gene: LFNG were set to 30196550; 16385447
Skeletal dysplasia v6.16 LFNG Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: LFNG.
Skeletal dysplasia v6.16 LFNG Achchuthan Shanmugasundram reviewed gene: LFNG: Rating: GREEN; Mode of pathogenicity: None; Publications: 16385447, 29459493, 30196550, 30531807, 33728697, 37038048, 38565611; Phenotypes: Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v6.22 CLEC3B Achchuthan Shanmugasundram Classified gene: CLEC3B as Amber List (moderate evidence)
Retinal disorders v6.22 CLEC3B Achchuthan Shanmugasundram Added comment: Comment on list classification: Although the same variant was identified in all five reported families from the same village, this variant recapitulated human phenotypes in mouse model. Hence, this gene can be associated with green rating in the next GMS update.
Retinal disorders v6.22 CLEC3B Achchuthan Shanmugasundram Gene: clec3b has been classified as Amber List (Moderate Evidence).
Retinal disorders v6.21 CLEC3B Achchuthan Shanmugasundram Phenotypes for gene: CLEC3B were changed from Macular dystrophy, retinal, 4 to Macular dystrophy, retinal, 4, OMIM:619977
Retinal disorders v6.20 CLEC3B Achchuthan Shanmugasundram Publications for gene: CLEC3B were set to PMID: 35331648
Retinal disorders v6.19 CLEC3B Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: CLEC3B.
Retinal disorders v6.19 CLEC3B Achchuthan Shanmugasundram reviewed gene: CLEC3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 35331648; Phenotypes: Macular dystrophy, retinal, 4, OMIM:619977; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bilateral congenital or childhood onset cataracts v5.6 FOSL2 Achchuthan Shanmugasundram Classified gene: FOSL2 as Amber List (moderate evidence)
Bilateral congenital or childhood onset cataracts v5.6 FOSL2 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of this gene with green rating in the next GMS update.
Bilateral congenital or childhood onset cataracts v5.6 FOSL2 Achchuthan Shanmugasundram Gene: fosl2 has been classified as Amber List (Moderate Evidence).
Bilateral congenital or childhood onset cataracts v5.5 FOSL2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FOSL2.
Bilateral congenital or childhood onset cataracts v5.5 FOSL2 Achchuthan Shanmugasundram gene: FOSL2 was added
gene: FOSL2 was added to Bilateral congenital or childhood onset cataracts. Sources: Literature
Mode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOSL2 were set to 36197437
Phenotypes for gene: FOSL2 were set to Aplasia cutis-enamel dysplasia syndrome, OMIM:620789
Review for gene: FOSL2 was set to GREEN
Added comment: PMID:36197437 reported 11 individuals from 10 unrelated families with heterozygous PTC variants (4 frameshift and 3 nonsense) in the last exon of FOSL2 gene. They all had a strikingly similar phenotype characterized by prenatal growth retardation, localized cutis scalp aplasia with or without skull defects, neurodevelopmental delay with autism spectrum disorder, enamel hypoplasia, and congenital cataracts.

Five individuals had cataracts, mostly bilateral, either congenital or diagnosed during early childhood.

This gene has been associated with relevant phenotypes in both OMIM (MIM #620789) and Gene2Phenotype (with 'moderate' rating on the DD panel).
Sources: Literature
Ectodermal dysplasia v3.33 FOSL2 Achchuthan Shanmugasundram Classified gene: FOSL2 as Amber List (moderate evidence)
Ectodermal dysplasia v3.33 FOSL2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots, there is sufficient evidence available for the association of this gene with green rating in the next GMS update.
Ectodermal dysplasia v3.33 FOSL2 Achchuthan Shanmugasundram Gene: fosl2 has been classified as Amber List (Moderate Evidence).
Ectodermal dysplasia v3.32 FOSL2 Achchuthan Shanmugasundram Phenotypes for gene: FOSL2 were changed from Aplasia cutis-enamel dysplasia syndrome to Aplasia cutis-enamel dysplasia syndrome, OMIM:620789
Ectodermal dysplasia v3.31 FOSL2 Achchuthan Shanmugasundram Publications for gene: FOSL2 were set to PMID: 36197437
Ectodermal dysplasia v3.30 FOSL2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FOSL2.
Ectodermal dysplasia v3.30 FOSL2 Achchuthan Shanmugasundram reviewed gene: FOSL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 36197437; Phenotypes: Aplasia cutis-enamel dysplasia syndrome, OMIM:620789; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v7.55 FOSL2 Achchuthan Shanmugasundram Classified gene: FOSL2 as Amber List (moderate evidence)
Intellectual disability v7.55 FOSL2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots, there is sufficient evidence available for the association of this gene with green rating in the next GMS update.
Intellectual disability v7.55 FOSL2 Achchuthan Shanmugasundram Gene: fosl2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v7.54 FOSL2 Achchuthan Shanmugasundram Publications for gene: FOSL2 were set to PMID: 36197437
Intellectual disability v7.54 FOSL2 Achchuthan Shanmugasundram Phenotypes for gene: FOSL2 were changed from Aplasia cutis-enamel dysplasia syndrome, OMIM:620789 to Aplasia cutis-enamel dysplasia syndrome, OMIM:620789
Intellectual disability v7.54 FOSL2 Achchuthan Shanmugasundram Phenotypes for gene: FOSL2 were changed from Aplasia cutis-enamel dysplasia syndrome to Aplasia cutis-enamel dysplasia syndrome, OMIM:620789
Intellectual disability v7.53 FOSL2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FOSL2.
Intellectual disability v7.53 FOSL2 Achchuthan Shanmugasundram reviewed gene: FOSL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 36197437; Phenotypes: Aplasia cutis-enamel dysplasia syndrome, OMIM:620789; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinal disorders v6.19 COQ8B Achchuthan Shanmugasundram Classified gene: COQ8B as Amber List (moderate evidence)
Retinal disorders v6.19 COQ8B Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Siying Lin, there is sufficient evidence available for the association of this gene with green rating in the next GMS update.
Retinal disorders v6.19 COQ8B Achchuthan Shanmugasundram Gene: coq8b has been classified as Amber List (Moderate Evidence).
Retinal disorders v6.18 COQ8B Achchuthan Shanmugasundram changed review comment from: PMID:39226897 reported the identification of compound heterozygous variants in COQ8B gene in five individuals from four different families with non-syndromic retinitis pigmentosa. In total, five different variants were identified from these patients (p.Arg63Trp, p.Trp189Ter, p.Asp386Asn, p.Val442Met and p.Trp520Ter). In addition, cell-based analysis of recombinant proteins deriving from these genotypes showed in all cases a significant decrease in ligand-protein interaction compared to the wild type.; to: PMID:39226897 reported the identification of compound heterozygous variants in COQ8B gene in five individuals from four different families with non-syndromic retinitis pigmentosa. In total, five different variants were identified from these patients (p.Arg63Trp, p.Trp189Ter, p.Asp386Asn, p.Val442Met and p.Trp520Ter). In addition, cell-based analysis of recombinant proteins deriving from these genotypes showed in all cases a significant decrease in ligand-protein interaction compared to the wild type.

This gene has not yet been associated with retinal phenotype either in OMIM or in Gene2Phenotype.
Retinal disorders v6.18 COQ8B Achchuthan Shanmugasundram commented on gene: COQ8B: PMID:39226897 reported the identification of compound heterozygous variants in COQ8B gene in five individuals from four different families with non-syndromic retinitis pigmentosa. In total, five different variants were identified from these patients (p.Arg63Trp, p.Trp189Ter, p.Asp386Asn, p.Val442Met and p.Trp520Ter). In addition, cell-based analysis of recombinant proteins deriving from these genotypes showed in all cases a significant decrease in ligand-protein interaction compared to the wild type.
Retinal disorders v6.18 COQ8B Achchuthan Shanmugasundram Publications for gene: COQ8B were set to PMID 39226897
Retinal disorders v6.17 COQ8B Achchuthan Shanmugasundram Phenotypes for gene: COQ8B were changed from Retinal dystrophy to Retinitis pigmentosa, MONDO:0019200
Retinal disorders v6.16 COQ8B Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: COQ8B.
Tag Q3_24_NHS_review tag was added to gene: COQ8B.
Retinal disorders v6.16 COQ8B Achchuthan Shanmugasundram reviewed gene: COQ8B: Rating: GREEN; Mode of pathogenicity: None; Publications: 39226897; Phenotypes: Retinitis pigmentosa, MONDO:0019200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v7.53 LRRC7 Achchuthan Shanmugasundram changed review comment from: PMID:39256359 identified 33 individuals with heterozygous missense or loss-of-function variants in LRRC7 and presenting with a neurodevelopmental disorder. This is a syndromic disorder characterised by intellectual disability, developmental delay, autism, attention deficit hyperactivity disorder (ADHD) and other behavioural features, including aggressiveness and impulsivity. There is also functional evidence available for the missense variants.; to: PMID:39256359 identified 33 individuals with heterozygous missense or loss-of-function variants in LRRC7 and presenting with a neurodevelopmental disorder. This is a syndromic disorder characterised by intellectual disability, developmental delay, autism, attention deficit hyperactivity disorder (ADHD) and other behavioural features, including aggressiveness and impulsivity. There is also functional evidence available for the missense and truncating variants that support LoF mechanism of disease.
Intellectual disability v7.53 LRRC7 Achchuthan Shanmugasundram Classified gene: LRRC7 as Amber List (moderate evidence)
Intellectual disability v7.53 LRRC7 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Andrew Mumford, there is sufficient evidence available for the association of this gene with green rating in the next GMS update.
Intellectual disability v7.53 LRRC7 Achchuthan Shanmugasundram Gene: lrrc7 has been classified as Amber List (Moderate Evidence).
Intellectual disability v7.52 LRRC7 Achchuthan Shanmugasundram Phenotypes for gene: LRRC7 were changed from neurodevelopmental abnormality; intelelctual disability; autism; abnormal earting behaviours to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v7.52 LRRC7 Achchuthan Shanmugasundram Publications for gene: LRRC7 were set to (PMID: 36928819):(PMID: 39256359)
Intellectual disability v7.51 LRRC7 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: LRRC7.
Tag Q3_24_NHS_review tag was added to gene: LRRC7.
Intellectual disability v7.51 LRRC7 Achchuthan Shanmugasundram reviewed gene: LRRC7: Rating: GREEN; Mode of pathogenicity: None; Publications: 39256359; Phenotypes: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v6.12 ZNFX1 Arina Puzriakova Phenotypes for gene: ZNFX1 were changed from mendelian susceptibility to mycobacterial disease; MSMD; monocytosis. to Immunodeficiency 91 and hyperinflammation, OMIM:619644
DDG2P v4.14 ZNF808 Arina Puzriakova Tag gene-checked tag was added to gene: ZNF808.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.11 ZNF341 Arina Puzriakova Phenotypes for gene: ZNF341 were changed from Hyper-IgE syndrome; Bacterial infections, mild facial dysmorphism, pneumatoceles, hyperextensible joints, bone fractures, retention of primary teeth; Combined immunodeficiencies with associated or syndromic features to Hyper-IgE syndrome 3, autosomal recessive, with recurrent infections, OMIM:618282; Hyper-IgE syndrome; Bacterial infections, mild facial dysmorphism, pneumatoceles, hyperextensible joints, bone fractures, retention of primary teeth; Combined immunodeficiencies with associated or syndromic features
Intellectual disability v7.51 ZBTB11 Arina Puzriakova Tag gene-checked tag was added to gene: ZBTB11.
Intellectual disability v7.51 ZBTB11 Arina Puzriakova Phenotypes for gene: ZBTB11 were changed from Intellectual developmental disorder, autosomal recessive 69, 618383; Intellectual disability to Intellectual developmental disorder, autosomal recessive 69, OMIM:618383
DDG2P v4.14 ZBTB11 Arina Puzriakova Tag gene-checked tag was added to gene: ZBTB11.
DDG2P v4.14 YWHAE Arina Puzriakova Tag gene-checked tag was added to gene: YWHAE.
Fetal anomalies v4.195 YIF1B Arina Puzriakova Tag gene-checked tag was added to gene: YIF1B.
Intellectual disability v7.50 YIF1B Arina Puzriakova Added comment: Comment on phenotypes: Relevant phenotype has now been added to OMIM - Kaya-Barakat-Masson syndrome, OMIM:619125
Intellectual disability v7.50 YIF1B Arina Puzriakova Phenotypes for gene: YIF1B were changed from Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement to Kaya-Barakat-Masson syndrome, OMIM:619125
Early onset or syndromic epilepsy v6.9 YIF1B Arina Puzriakova Added comment: Comment on phenotypes: Relevant phenotype has now been added to OMIM - Kaya-Barakat-Masson syndrome, OMIM:619125
Early onset or syndromic epilepsy v6.9 YIF1B Arina Puzriakova Phenotypes for gene: YIF1B were changed from Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement to Kaya-Barakat-Masson syndrome, OMIM:619125
Severe microcephaly v6.8 YIF1B Arina Puzriakova Added comment: Comment on phenotypes: Relevant phenotype has now been added to OMIM - Kaya-Barakat-Masson syndrome, OMIM:619125
Severe microcephaly v6.8 YIF1B Arina Puzriakova Phenotypes for gene: YIF1B were changed from Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement to Kaya-Barakat-Masson syndrome, OMIM:619125
Childhood onset dystonia, chorea or related movement disorder v5.4 YIF1B Arina Puzriakova Added comment: Comment on phenotypes: Relevant phenotype has now been added to OMIM - Kaya-Barakat-Masson syndrome, OMIM:619125
Childhood onset dystonia, chorea or related movement disorder v5.4 YIF1B Arina Puzriakova Phenotypes for gene: YIF1B were changed from Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement to Kaya-Barakat-Masson syndrome, OMIM:619125
DDG2P v4.14 WNT7B Arina Puzriakova Tag gene-checked tag was added to gene: WNT7B.
Intellectual disability v7.49 WDR5 Arina Puzriakova Tag gene-checked tag was added to gene: WDR5.
Fetal anomalies v4.195 WDR37 Arina Puzriakova Tag gene-checked tag was added to gene: WDR37.
Retinal disorders v6.16 UBAP1L Arina Puzriakova Tag gene-checked tag was added to gene: UBAP1L.
Renal ciliopathies v3.13 TXNDC15 Arina Puzriakova Phenotypes for gene: TXNDC15 were changed from MGS; Meckel-Gruber syndrome to Meckel syndrome 14, OMIM:619879
Neurological ciliopathies v4.10 TXNDC15 Arina Puzriakova Phenotypes for gene: TXNDC15 were changed from MGS; Meckel-Gruber syndrome to Meckel syndrome 14, OMIM:619879
Rare multisystem ciliopathy disorders v1.174 TXNDC15 Arina Puzriakova Phenotypes for gene: TXNDC15 were changed from Meckel-Gruber syndrome; MGS to Meckel syndrome 14, OMIM:619879
Fetal anomalies v4.195 TXNDC15 Arina Puzriakova Phenotypes for gene: TXNDC15 were changed from Meckel Gruber syndrome to Meckel syndrome 14, OMIM:619879
Limb disorders v6.2 TXNDC15 Arina Puzriakova Phenotypes for gene: TXNDC15 were changed from Meckel-Gruber syndrome to Meckel syndrome 14, OMIM:619879
Unexplained young onset end-stage renal disease v5.33 TXNDC15 Arina Puzriakova Phenotypes for gene: TXNDC15 were changed from MGS; Meckel-Gruber syndrome to Meckel syndrome 14, OMIM:619879
Fetal anomalies v4.194 TUBGCP2 Arina Puzriakova Tag gene-checked tag was added to gene: TUBGCP2.
Early onset or syndromic epilepsy v6.8 TUBGCP2 Arina Puzriakova Phenotypes for gene: TUBGCP2 were changed from Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, 618737 to Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM:618737
Intellectual disability v7.49 TUBGCP2 Arina Puzriakova Phenotypes for gene: TUBGCP2 were changed from Lissencephaly; pachygyria; subcortical band heterotopia; microcephaly; intellectual disability to Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM:618737
Intellectual disability v7.48 TTC5 Arina Puzriakova Added comment: Comment on phenotypes: Relevant phenotype has now been added to OMIM - Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism, OMIM:619244
Intellectual disability v7.48 TTC5 Arina Puzriakova Phenotypes for gene: TTC5 were changed from Central hypotonia; Global developmental delay; Intellectual disability; Abnormality of nervous system morphology; Microcephaly; Abnormality of the face; Behavioral abnormality; Abnormality of the genitourinary system to Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism, OMIM:619244
Severe microcephaly v6.7 TTC5 Arina Puzriakova Added comment: Comment on phenotypes: Relevant phenotype has now been added to OMIM - Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism, OMIM:619244
Severe microcephaly v6.7 TTC5 Arina Puzriakova Phenotypes for gene: TTC5 were changed from Central hypotonia; Global developmental delay; Intellectual disability; Abnormality of nervous system morphology; Microcephaly; Abnormality of the face; Behavioral abnormality; Abnormality of the genitourinary system to Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism, OMIM:619244
Fetal anomalies v4.194 TRIM71 Arina Puzriakova Tag gene-checked tag was added to gene: TRIM71.
Intellectual disability v7.47 TMEM94 Arina Puzriakova Phenotypes for gene: TMEM94 were changed from Intellectual developmental disorder with cardiac defects and dysmorphic facies, 618316; Global developmental delay; Intellectual disability; Abnormal heart morphology; Abnormality of head or neck to Intellectual developmental disorder with cardiac defects and dysmorphic facies, OMIM:618316
DDG2P v4.14 TMEM94 Arina Puzriakova Phenotypes for gene: TMEM94 were changed from Neurodevelopmental Delay Congenital Heart Defects and Distinct Facial Dysmorphism to Intellectual developmental disorder with cardiac defects and dysmorphic facies, OMIM:618316
DDG2P v4.13 TMEM63B Arina Puzriakova Tag gene-checked tag was added to gene: TMEM63B.
Fetal anomalies v4.194 TMEM218 Arina Puzriakova Tag gene-checked tag was added to gene: TMEM218.
Intellectual disability v7.46 TBC1D8B Arina Puzriakova Tag gene-checked tag was added to gene: TBC1D8B.
DDG2P v4.13 TBC1D32 Arina Puzriakova Tag gene-checked tag was added to gene: TBC1D32.
Intellectual disability v7.46 STX1A Arina Puzriakova Tag gene-checked tag was added to gene: STX1A.
DDG2P v4.13 STX1A Arina Puzriakova Tag gene-checked tag was added to gene: STX1A.
Intellectual disability v7.46 ITSN1 Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v7.46 ITSN1 Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v7.46 ITSN1 Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v7.46 ITSN1 Achchuthan Shanmugasundram Deleted their comment
Retinal disorders v6.16 SLC37A3 Arina Puzriakova Tag gene-checked tag was added to gene: SLC37A3.
Intellectual disability v7.46 SEPHS1 Arina Puzriakova Tag gene-checked tag was added to gene: SEPHS1.
DDG2P v4.13 SART3 Arina Puzriakova Tag gene-checked tag was added to gene: SART3.
Retinal disorders v6.16 SAMD7 Arina Puzriakova Tag gene-checked tag was added to gene: SAMD7.
Retinal disorders v6.16 SAMD7 Arina Puzriakova Phenotypes for gene: SAMD7 were changed from macular dystrophy, retinal, MONDO:0031166; Congenital stationary cone dysfunction, HP:0030637 to Macular dystrophy with or without cone dysfunction, OMIM:620762
Intellectual disability v7.46 RNU4-2 Arina Puzriakova Tag gene-checked tag was added to gene: RNU4-2.
DDG2P v4.13 RNU4-2 Arina Puzriakova Tag gene-checked tag was added to gene: RNU4-2.
Early onset or syndromic epilepsy v6.7 RNU4-2 Arina Puzriakova Tag gene-checked tag was added to gene: RNU4-2.
Severe microcephaly v6.6 RNU4-2 Arina Puzriakova Tag gene-checked tag was added to gene: RNU4-2.
DDG2P v4.13 RNU4-2 Arina Puzriakova Tag locus-type-rna-small-nuclear tag was added to gene: RNU4-2.
Rare syndromic craniosynostosis or isolated multisuture synostosis v5.1 RNU12 Arina Puzriakova Tag gene-checked tag was added to gene: RNU12.
DDG2P v4.13 RNU12 Arina Puzriakova Tag gene-checked tag was added to gene: RNU12.
Rare genetic inflammatory skin disorders v3.20 RNU12 Arina Puzriakova Tag gene-checked tag was added to gene: RNU12.
Fetal anomalies v4.194 RNU12 Arina Puzriakova Tag locus-type-rna-small-nuclear tag was added to gene: RNU12.
Tag gene-checked tag was added to gene: RNU12.
Intellectual disability v7.46 RBSN Arina Puzriakova Tag gene-checked was removed from gene: RBSN.
Intellectual disability v7.46 RBSN Arina Puzriakova Added comment: Comment on phenotypes: Phenotypes have now been added to OMIM for this gene - Kariminejad-Reversade neurodevelopmental syndrome, OMIM:620937 and Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities, OMIM:620939
Intellectual disability v7.46 RBSN Arina Puzriakova Phenotypes for gene: RBSN were changed from intellectual disability, MONDO:0001071 to Kariminejad-Reversade neurodevelopmental syndrome, OMIM:620937; Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities, OMIM:620939
DDG2P v4.13 RABGAP1 Arina Puzriakova Tag gene-checked tag was added to gene: RABGAP1.
DDG2P v4.13 PRPF19 Arina Puzriakova Tag gene-checked tag was added to gene: PRPF19.
Unexplained young onset end-stage renal disease v5.32 PRDM15 Arina Puzriakova Tag gene-checked tag was added to gene: PRDM15.
DDG2P v4.13 PRDM15 Arina Puzriakova Tag gene-checked tag was added to gene: PRDM15.
Proteinuric renal disease v4.14 PRDM15 Arina Puzriakova Tag gene-checked tag was added to gene: PRDM15.
Unexplained young onset end-stage renal disease - additional genes v0.126 PRDM15 Arina Puzriakova Tag gene-checked tag was added to gene: PRDM15.
Retinal disorders v6.15 PQLC2 Arina Puzriakova Tag gene-checked tag was added to gene: PQLC2.
DDG2P v4.13 PPFIA3 Arina Puzriakova Tag gene-checked tag was added to gene: PPFIA3.
Amelogenesis imperfecta v3.9 PLXNB2 Arina Puzriakova Tag gene-checked tag was added to gene: PLXNB2.
Monogenic hearing loss v4.51 PLXNB2 Arina Puzriakova Tag gene-checked tag was added to gene: PLXNB2.
Intellectual disability v7.45 PLXNB2 Arina Puzriakova Tag gene-checked tag was added to gene: PLXNB2.
DDG2P v4.13 PHF5A Arina Puzriakova Tag gene-checked tag was added to gene: PHF5A.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 NUDCD3 Arina Puzriakova Tag gene-checked tag was added to gene: NUDCD3.
DDG2P v4.13 MYH10 Arina Puzriakova Tag gene-checked tag was added to gene: MYH10.
Mitochondrial disorders v7.4 MT-TT Arina Puzriakova Tag gene-checked tag was added to gene: MT-TT.
Likely inborn error of metabolism v6.14 MT-TT Arina Puzriakova Tag gene-checked tag was added to gene: MT-TT.
Retinal disorders v6.15 MT-TL1 Arina Puzriakova Tag gene-checked tag was added to gene: MT-TL1.
Likely inborn error of metabolism v6.14 MT-TI Arina Puzriakova Phenotypes for gene: MT-TI were changed from to familial hypertrophic cardiomyopathy, MONDO:0024573; familial dilated cardiomyopathy, MONDO:0016333
Undiagnosed metabolic disorders v1.621 MT-TI Arina Puzriakova Phenotypes for gene: MT-TI were changed from to familial hypertrophic cardiomyopathy, MONDO:0024573; familial dilated cardiomyopathy, MONDO:0016333
Mitochondrial disorders v7.4 MT-TI Arina Puzriakova Phenotypes for gene: MT-TI were changed from to familial hypertrophic cardiomyopathy, MONDO:0024573; familial dilated cardiomyopathy, MONDO:0016333
Paediatric or syndromic cardiomyopathy v5.13 MT-TI Arina Puzriakova Tag gene-checked tag was added to gene: MT-TI.
Hypertrophic cardiomyopathy v4.16 MT-TI Arina Puzriakova Tag gene-checked tag was added to gene: MT-TI.
Intellectual disability v7.45 MMGT1 Arina Puzriakova Mode of inheritance for gene: MMGT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability v7.44 METTL5 Arina Puzriakova Phenotypes for gene: METTL5 were changed from Intellectual developmental disorder, autosomal recessive 72, 618665 to Intellectual developmental disorder, autosomal recessive 72, OMIM:618665
DDG2P v4.13 METTL5 Arina Puzriakova Phenotypes for gene: METTL5 were changed from Autosomal-Recessive Intellectual Disability and Microcephaly to Intellectual developmental disorder, autosomal recessive 72, OMIM:618665
DDG2P v4.12 MAP4K4 Arina Puzriakova Tag gene-checked tag was added to gene: MAP4K4.
DDG2P v4.12 MAP4K4 Arina Puzriakova Publications for gene: MAP4K4 were set to 36469137; 28518170; PMID: 37126546; 37126546
Optic neuropathy v4.33 LHX2 Arina Puzriakova Tag gene-checked tag was added to gene: LHX2.
Severe microcephaly v6.6 LHX2 Arina Puzriakova Tag gene-checked tag was added to gene: LHX2.
DDG2P v4.11 LHX2 Arina Puzriakova Tag gene-checked tag was added to gene: LHX2.
DDG2P v4.11 LEF1 Arina Puzriakova Tag gene-checked tag was added to gene: LEF1.
Ectodermal dysplasia v3.30 LEF1 Arina Puzriakova Tag gene-checked tag was added to gene: LEF1.
DDG2P v4.11 KLHL20 Arina Puzriakova Tag gene-checked tag was added to gene: KLHL20.
Intellectual disability v7.43 KIRREL3 Arina Puzriakova Tag gene-checked tag was added to gene: KIRREL3.
DDG2P v4.11 KCND2 Arina Puzriakova Tag gene-checked tag was added to gene: KCND2.
Intellectual disability v7.43 KCNB2 Arina Puzriakova Tag gene-checked tag was added to gene: KCNB2.
Early onset or syndromic epilepsy v6.7 KCNB2 Arina Puzriakova Tag gene-checked tag was added to gene: KCNB2.
Intellectual disability v7.43 KCNA3 Arina Puzriakova Tag gene-checked tag was added to gene: KCNA3.
Early onset or syndromic epilepsy v6.7 KCNA3 Arina Puzriakova Tag gene-checked tag was added to gene: KCNA3.
Intellectual disability v7.43 ITSN1 Arina Puzriakova Tag gene-checked tag was added to gene: ITSN1.
Fetal anomalies v4.194 HYAL2 Arina Puzriakova Tag gene-checked tag was added to gene: HYAL2.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 HSPA1L Arina Puzriakova Tag gene-checked tag was added to gene: HSPA1L.
DDG2P v4.11 HECTD4 Arina Puzriakova Tag gene-checked tag was added to gene: HECTD4.
Intellectual disability v7.43 GTF3C5 Arina Puzriakova Tag gene-checked tag was added to gene: GTF3C5.
DDG2P v4.11 FOXP4 Arina Puzriakova Tag gene-checked tag was added to gene: FOXP4.
Intellectual disability v7.43 FEM1B Arina Puzriakova Tag gene-checked tag was added to gene: FEM1B.
Fetal anomalies v4.194 FBRSL1 Arina Puzriakova Tag gene-checked tag was added to gene: FBRSL1.
Fetal anomalies v4.194 FAT1 Arina Puzriakova Tag gene-checked tag was added to gene: FAT1.
Intellectual disability v7.43 FAM177A1 Arina Puzriakova Tag gene-checked tag was added to gene: FAM177A1.
Fetal anomalies v4.194 FAM149B1 Arina Puzriakova Tag gene-checked tag was added to gene: FAM149B1.
Intellectual disability v7.43 EZH1 Arina Puzriakova Tag gene-checked tag was added to gene: EZH1.
DDG2P v4.11 EZH1 Arina Puzriakova Tag gene-checked tag was added to gene: EZH1.
Renal ciliopathies v3.12 EXOC3L2 Arina Puzriakova Phenotypes for gene: EXOC3L2 were changed from Dandy-Walker malformation; enlarged echogenic kidneys; echogenic kidneys; hydrocephalus; anhydramnios to Brain malformation renal syndrome, OMIM:620943
Neurological ciliopathies v4.9 EXOC3L2 Arina Puzriakova Phenotypes for gene: EXOC3L2 were changed from Dandy-Walker malformation; enlarged echogenic kidneys; echogenic kidneys; hydrocephalus; anhydramnios to Brain malformation renal syndrome, OMIM:620943
Rare multisystem ciliopathy disorders v1.173 EXOC3L2 Arina Puzriakova Phenotypes for gene: EXOC3L2 were changed from anhydramnios; echogenic kidneys; hydrocephalus; Dandy-Walker malformation; enlarged echogenic kidneys to Brain malformation renal syndrome, OMIM:620943
Fetal anomalies v4.194 EXOC3L2 Arina Puzriakova Phenotypes for gene: EXOC3L2 were changed from Dandy-Walker malformation; Meckel-Gruber-like syndrome to Brain malformation renal syndrome, OMIM:620943; Dandy-Walker malformation; Meckel-Gruber-like syndrome
CAKUT v1.178 EXOC3L2 Arina Puzriakova Phenotypes for gene: EXOC3L2 were changed from Dandy-Walker malformation; renal dysplasia; bone marrow failure to Brain malformation renal syndrome, OMIM:620943
Fetal anomalies v4.193 EXOC3L2 Arina Puzriakova Tag gene-checked was removed from gene: EXOC3L2.
Fetal anomalies v4.193 ERGIC1 Arina Puzriakova Tag gene-checked tag was added to gene: ERGIC1.
Fetal anomalies v4.193 DYNC1I1 Arina Puzriakova Tag gene-checked tag was added to gene: DYNC1I1.
DDG2P v4.11 DOT1L Arina Puzriakova Tag gene-checked tag was added to gene: DOT1L.
Intellectual disability v7.43 DOCK4 Arina Puzriakova Tag gene-checked tag was added to gene: DOCK4.
DDG2P v4.11 DHX9 Arina Puzriakova Tag gene-checked tag was added to gene: DHX9.
DDG2P v4.11 DENND5B Arina Puzriakova Tag gene-checked tag was added to gene: DENND5B.
Early onset or syndromic epilepsy v6.7 DENND5B Arina Puzriakova Tag gene-checked tag was added to gene: DENND5B.
Intellectual disability v7.43 DENND5B Arina Puzriakova Tag gene-checked tag was added to gene: DENND5B.
DDG2P v4.11 DAW1 Arina Puzriakova Phenotypes for gene: DAW1 were changed from DAW1-associated ciliopathy to Ciliary dyskinesia, primary, 52, OMIM:620570
Respiratory ciliopathies including non-CF bronchiectasis v3.19 DAW1 Arina Puzriakova Phenotypes for gene: DAW1 were changed from motile ciliopathy laterality disorder to Ciliary dyskinesia, primary, 52, OMIM:620570
Laterality disorders and isomerism v3.17 DAW1 Arina Puzriakova Phenotypes for gene: DAW1 were changed from motile ciliopathy laterality disorder to Ciliary dyskinesia, primary, 52, OMIM:620570
Non-CF bronchiectasis v1.31 DAW1 Arina Puzriakova Phenotypes for gene: DAW1 were changed from motile ciliopathy laterality disorder to Ciliary dyskinesia, primary, 52, OMIM:620570
Non-CF bronchiectasis v1.30 DAW1 Arina Puzriakova Tag gene-checked tag was added to gene: DAW1.
Intellectual disability v7.43 CXorf56 Arina Puzriakova Phenotypes for gene: CXorf56 were changed from ?Mental retardation, X-linked 107, 301013 to Intellectual developmental disorder, X-linked 107, OMIM:301013
DDG2P v4.10 CTR9 Arina Puzriakova Tag gene-checked tag was added to gene: CTR9.
DDG2P v4.10 CNOT9 Arina Puzriakova Tag gene-checked tag was added to gene: CNOT9.
Intellectual disability v7.42 CLEC16A Arina Puzriakova Tag gene-checked tag was added to gene: CLEC16A.
Fetal anomalies v4.193 CEP85L Arina Puzriakova Tag gene-checked tag was added to gene: CEP85L.
Intellectual disability v7.42 CCDC47 Arina Puzriakova Phenotypes for gene: CCDC47 were changed from Woolly hair; Abnormality of the liver; Global developmental delay; Intellectual disability; Trichohepatoneurodevelopmental syndrome, 618268 to Trichohepatoneurodevelopmental syndrome, OMIM:618268
Arthrogryposis v7.5 CCDC47 Arina Puzriakova Phenotypes for gene: CCDC47 were changed from to Trichohepatoneurodevelopmental syndrome, OMIM:618268
DDG2P v4.10 CBX1 Arina Puzriakova Tag gene-checked tag was added to gene: CBX1.
Paediatric or syndromic cardiomyopathy v5.13 CASZ1 Arina Puzriakova Tag gene-checked tag was added to gene: CASZ1.
Paediatric or syndromic cardiomyopathy v5.13 CAMK2D Arina Puzriakova Tag gene-checked tag was added to gene: CAMK2D.
Intellectual disability v7.41 CAMK2D Arina Puzriakova Tag gene-checked tag was added to gene: CAMK2D.
Early onset or syndromic epilepsy v6.7 CAMK2D Arina Puzriakova Tag gene-checked tag was added to gene: CAMK2D.
DDG2P v4.10 CAMK2D Arina Puzriakova Tag gene-checked tag was added to gene: CAMK2D.
Fetal anomalies v4.193 C2orf69 Arina Puzriakova Tag gene-checked tag was added to gene: C2orf69.
Laterality disorders and isomerism v3.16 C11orf70 Arina Puzriakova Phenotypes for gene: C11orf70 were changed from Ciliary dyskinesia, primary, 38, 618063 to Ciliary dyskinesia, primary, 38, OMIM:618063
Respiratory ciliopathies including non-CF bronchiectasis v3.18 C11orf70 Arina Puzriakova Phenotypes for gene: C11orf70 were changed from Ciliary dyskinesia, primary, 38, 618063 to Ciliary dyskinesia, primary, 38, OMIM:618063
Fetal anomalies v4.193 C11orf70 Arina Puzriakova Phenotypes for gene: C11orf70 were changed from PRIMARY CILIARY DYSKINESIA to Ciliary dyskinesia, primary, 38, OMIM:618063
Intellectual disability v7.41 BORCS8 Arina Puzriakova Tag gene-checked tag was added to gene: BORCS8.
Early onset or syndromic epilepsy v6.7 BORCS8 Arina Puzriakova Tag gene-checked tag was added to gene: BORCS8.
DDG2P v4.10 BORCS8 Arina Puzriakova Tag gene-checked tag was added to gene: BORCS8.
Childhood onset hereditary spastic paraplegia v6.4 BORCS8 Arina Puzriakova Tag gene-checked tag was added to gene: BORCS8.
Optic neuropathy v4.33 BORCS8 Arina Puzriakova Tag gene-checked tag was added to gene: BORCS8.
Intellectual disability v7.41 BAZ2B Arina Puzriakova Tag gene-checked tag was added to gene: BAZ2B.
Intellectual disability v7.41 ANO4 Arina Puzriakova Tag gene-checked tag was added to gene: ANO4.
Early onset or syndromic epilepsy v6.7 ANO4 Arina Puzriakova Tag gene-checked tag was added to gene: ANO4.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 ANKZF1 Arina Puzriakova Tag gene-checked tag was added to gene: ANKZF1.
Unexplained young onset end-stage renal disease - additional genes v0.126 Achchuthan Shanmugasundram Panel status changed from public to internal
NICE approved PARP inhibitor treatment v0.7 Achchuthan Shanmugasundram Panel status changed from public to internal
Unexplained young onset end-stage renal disease - additional genes v0.125 Achchuthan Shanmugasundram Panel status changed from internal to public
NICE approved PARP inhibitor treatment v0.6 Achchuthan Shanmugasundram Panel status changed from internal to public
Retinal disorders v6.15 DCT Sarah Leigh Tag Q3_24_promote_green tag was added to gene: DCT.
Tag Q3_24_NHS_review tag was added to gene: DCT.
Tag Q3_24_MOI tag was added to gene: DCT.
Albinism or congenital nystagmus v3.9 DCT Sarah Leigh Publications for gene: DCT were set to 33100333
Albinism or congenital nystagmus v3.8 DCT Sarah Leigh reviewed gene: DCT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Retinal disorders v6.15 DCT Sarah Leigh reviewed gene: DCT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Retinal disorders v6.15 DCT Sarah Leigh Phenotypes for gene: DCT were changed from oculocutaneous albinism; foveal hypoplasia; chiasmal misrouting; iris transillumination defect; nystagmus; ocular hypopigmentation to Oculocutaneous albinism, type VIII, OMIM:619165; oculocutaneous albinism type 8, MONDO:0030899
Albinism or congenital nystagmus v3.8 DCT Sarah Leigh Phenotypes for gene: DCT were changed from Ocutaneous albinism to Oculocutaneous albinism, type VIII, OMIM:619165; oculocutaneous albinism type 8, MONDO:0030899
Retinal disorders v6.14 DCT Sarah Leigh Publications for gene: DCT were set to (Pennamen et al., 2021) (PMID: 33100333); (Volk et al., 2021) (PMID: 33959807)
Retinal disorders v6.13 DCT Sarah Leigh Classified gene: DCT as Amber List (moderate evidence)
Retinal disorders v6.13 DCT Sarah Leigh Gene: dct has been classified as Amber List (Moderate Evidence).
Retinal disorders v6.12 MAN2B1 Sarah Leigh Tag Q3_24_MOI tag was added to gene: MAN2B1.
Retinal disorders v6.12 MAN2B1 Sarah Leigh commented on gene: MAN2B1: MAN2B1 variants have been associated with Mannosidosis, alpha-, types I and II, (OMIM:248500).
Matlach et al (PMID: 29859105) present a detailed study of the ocular manifestations in OMIM:248500. Using posterior segment examination, fundus photography, and Spectral-Domain optical coherence tomography (SD-OCT) imaging, in a cohort of 32 patients, the authors were able to show the following: Tapeto-retinal degeneration with bone spicule formations in the peripheral retina or macular changes in three patients (9.4%) on funduscopy (two had optic nerve atrophy). Thinning of the outer retinal layer was seen in six patients (18.8%) using OCT. Optic nerve atrophy was seen in six patients (18.8%)(four with partial atrophy). A further two patients (6.3%) had partial optic nerve atrophy with no retinal abnormalities on funduscopy. Cataract was seen in two patients (6.3%), corneal haze was seen in two patients (6.3%). Six patients (18.8%) had manifest strabismus, four (12.5%) nystagmus, and in five patients (15.6%) impaired smooth pursuit eye movements were seen. This study emphasized the importance of detailed examinations, to be able to diagnose early signs of disease.
Retinal disorders v6.12 MAN2B1 Sarah Leigh Deleted their comment
Retinal disorders v6.12 MAN2B1 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: MAN2B1.
Tag Q3_24_NHS_review tag was added to gene: MAN2B1.
Retinal disorders v6.12 MAN2B1 Sarah Leigh reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Retinal disorders v6.12 MAN2B1 Sarah Leigh Phenotypes for gene: MAN2B1 were changed from Mannosidosis, alpha-, types I and II, OMIM:248500 to Mannosidosis, alpha-, types I and II, OMIM:248500; alpha-mannosidosis, MONDO:0009561
Retinal disorders v6.11 MAN2B1 Sarah Leigh Phenotypes for gene: MAN2B1 were changed from Retinal dystrophy to Mannosidosis, alpha-, types I and II, OMIM:248500
Retinal disorders v6.10 MAN2B1 Sarah Leigh Publications for gene: MAN2B1 were set to PMID:29859105
Retinal disorders v6.9 MAN2B1 Sarah Leigh Classified gene: MAN2B1 as Amber List (moderate evidence)
Retinal disorders v6.9 MAN2B1 Sarah Leigh Gene: man2b1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 TET2 Sarah Dixon reviewed gene: TET2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 36066697; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v6.16 RIPPLY2 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: RIPPLY2.
Skeletal dysplasia v6.16 RIPPLY2 Sarah Leigh Classified gene: RIPPLY2 as Amber List (moderate evidence)
Skeletal dysplasia v6.16 RIPPLY2 Sarah Leigh Gene: ripply2 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v6.15 RIPPLY2 Sarah Leigh changed review comment from: RIPPLY2 variants have been associated with Spondylocostal dysostosis 6 (OMIM:616566). In total, three RIPPLY2 variants have been identified ten affected individuals from seven unrelated families (PMID: 26238661;25343988;32212228;33410135). Segregation of the RIPPLY2 variants was seen, with the unaffected parents being heterozygous for the variants that were either homozygous, or compound heterozygous in the affected child. Variant c.240-4T>G (NM_001009994.2) has a allele frequency of 0.001105 (gnomAD 4.1), and a homozygous frequency of 0.0000020229.; to: RIPPLY2 variants have been associated with Spondylocostal dysostosis 6 (OMIM:616566). In total, three RIPPLY2 variants have been identified ten affected individuals from seven unrelated families (PMID: 26238661;25343988;32212228;33410135). Segregation of the RIPPLY2 variants was seen in all cases, with the unaffected parents being heterozygous for the variants that were either homozygous, or compound heterozygous in the affected child. Variant c.240-4T>G (NM_001009994.2) has a allele frequency of 0.001105 (gnomAD 4.1), and a homozygous frequency of 0.0000020229.
Skeletal dysplasia v6.15 RIPPLY2 Sarah Leigh reviewed gene: RIPPLY2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Skeletal dysplasia v6.15 RIPPLY2 Sarah Leigh Publications for gene: RIPPLY2 were set to 26238661; 25343988; 33410135
Skeletal dysplasia v6.14 RIPPLY2 Sarah Leigh Publications for gene: RIPPLY2 were set to 26238661; 25343988
Skeletal dysplasia v6.13 RIPPLY2 Sarah Leigh Phenotypes for gene: RIPPLY2 were changed from Spondylocostal dysostosis 6 - 616566 to Spondylocostal dysostosis 6, OMIM:616566; spondylocostal dysostosis 6, autosomal recessive, MONDO:0014694
Arthrogryposis v7.4 SLC35A3 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: SLC35A3.
Tag Q2_24_NHS_review was removed from gene: SLC35A3.
Adult onset neurodegenerative disorder v6.6 ATXN2_CAG Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from STR: ATXN2_CAG.
Tag Q2_24_NHS_review was removed from STR: ATXN2_CAG.
Likely inborn error of metabolism v6.13 ARSK Sarah Leigh Classified gene: ARSK as Amber List (moderate evidence)
Likely inborn error of metabolism v6.13 ARSK Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Likely inborn error of metabolism v6.13 ARSK Sarah Leigh Gene: arsk has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v6.12 ARSK Sarah Leigh Classified gene: ARSK as Amber List (moderate evidence)
Skeletal dysplasia v6.12 ARSK Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Skeletal dysplasia v6.12 ARSK Sarah Leigh Gene: arsk has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v6.11 ARSK Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ARSK.
Skeletal dysplasia v6.11 ARSK Sarah Leigh reviewed gene: ARSK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Likely inborn error of metabolism v6.12 ARSK Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ARSK.
Likely inborn error of metabolism v6.12 ARSK Sarah Leigh reviewed gene: ARSK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Likely inborn error of metabolism v6.12 ARSK Sarah Leigh Phenotypes for gene: ARSK were changed from Mucopolysaccharidoses with short stature, coarse facial features and dysostosis multiplex to Mucopolysaccharidosis, type X, OMIM:619698; mucopolysaccharidosis, type 10, MONDO:0030524
Skeletal dysplasia v6.11 ARSK Sarah Leigh Phenotypes for gene: ARSK were changed from Mucopolysaccharidoses with short stature, coarse facial features and dysostosis multiplex to Mucopolysaccharidosis, type X, OMIM:619698; mucopolysaccharidosis, type 10, MONDO:0030524
Likely inborn error of metabolism v6.11 ARSK Sarah Leigh Publications for gene: ARSK were set to 34916232
Skeletal dysplasia v6.10 ARSK Sarah Leigh Publications for gene: ARSK were set to 34916232
Childhood onset hereditary spastic paraplegia v6.4 BORCS8 Sarah Leigh reviewed gene: BORCS8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Unexplained young onset end-stage renal disease - additional genes v0.124 Achchuthan Shanmugasundram Panel types changed to Component Of Super Panel
Early onset or syndromic epilepsy v6.7 BORCS8 Sarah Leigh Tag watchlist tag was added to gene: BORCS8.
Early onset or syndromic epilepsy v6.7 BORCS8 Sarah Leigh reviewed gene: BORCS8: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ectodermal dysplasia v3.30 KRT83 Arina Puzriakova Mode of inheritance for gene: KRT83 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric disorders - additional genes v5.10 PLD1 Achchuthan Shanmugasundram Source Expert Review Amber was added to PLD1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric disorders - additional genes v5.9 PLD1 Achchuthan Shanmugasundram edited their review of gene: PLD1: Changed rating: AMBER
Paediatric disorders - additional genes v5.9 PLD1 Achchuthan Shanmugasundram changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains green.; to: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.
Ectodermal dysplasia v3.29 KRT83 Arina Puzriakova changed review comment from: Comment on list classification: KRT81 is associated with two relevant phenotypes in OMIM (MIM# 158000) and G2P with a 'definitive' disease confidence classification for monilethrix. Monoallelic variant have been linked to monilethrix in two families (PMID: 15744029; 25557232) while biallelic variants were found in one family with EKVP5 (PMID: 27965375).

Overall no additional evidence has been published since the last review and therefore going to maintain the amber rating for now, but adding a 'watchlist' tag to monitor for additional evidence that may lead to future upgrade to green.

Other keratin genes, like KRT81 and KRT86 have been added as amber with the recommendation of being made green at the next review.; to: Comment on list classification: KRT83 is associated with two relevant phenotypes in OMIM (MIM# 158000) and G2P with a 'definitive' disease confidence classification for monilethrix. Monoallelic variant have been linked to monilethrix in two families (PMID: 15744029; 25557232) while biallelic variants were found in one family with EKVP5 (PMID: 27965375).

Overall no additional evidence has been published since the last review and therefore going to maintain the amber rating for now, but adding a 'watchlist' tag to monitor for additional evidence that may lead to future upgrade to green.

Other keratin genes, like KRT81 and KRT86 have been added as amber with the recommendation of being made green at the next review.
Early onset or syndromic epilepsy v6.7 BORCS8 Sarah Leigh Tag Q3_24_promote_green was removed from gene: BORCS8.
Childhood onset hereditary spastic paraplegia v6.4 BORCS8 Sarah Leigh Entity copied from Intellectual disability v7.41
Childhood onset hereditary spastic paraplegia v6.4 BORCS8 Sarah Leigh gene: BORCS8 was added
gene: BORCS8 was added to Childhood onset hereditary spastic paraplegia. Sources: Expert Review Amber,Literature
Q3_24_promote_green tags were added to gene: BORCS8.
Mode of inheritance for gene: BORCS8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BORCS8 were set to 38128568
Phenotypes for gene: BORCS8 were set to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Early onset or syndromic epilepsy v6.7 BORCS8 Sarah Leigh Entity copied from Intellectual disability v7.41
Early onset or syndromic epilepsy v6.7 BORCS8 Sarah Leigh gene: BORCS8 was added
gene: BORCS8 was added to Early onset or syndromic epilepsy. Sources: Expert Review Amber,Literature
Q3_24_promote_green tags were added to gene: BORCS8.
Mode of inheritance for gene: BORCS8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BORCS8 were set to 38128568
Phenotypes for gene: BORCS8 were set to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Paediatric or syndromic cardiomyopathy v5.13 PLD1 Eleanor Williams changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains green.; to: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval. GLHs agree that additional supportive evidence is needed.
Paediatric or syndromic cardiomyopathy v5.13 PLD1 Eleanor Williams Classified gene: PLD1 as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v5.13 PLD1 Eleanor Williams Gene: pld1 has been classified as Amber List (Moderate Evidence).
Unexplained young onset end-stage renal disease - additional genes v0.122 SOX17 Achchuthan Shanmugasundram Phenotypes for gene: SOX17 were changed from Vesicoureteral reflux 3, 613674 to Vesicoureteral reflux 3, OMIM:613674
Unexplained young onset end-stage renal disease - additional genes v0.121 SIX1 Achchuthan Shanmugasundram Phenotypes for gene: SIX1 were changed from Branchiootorenal Spectrum Disorders to Branchiootic syndrome 3, OMIM:608389; Deafness, autosomal dominant 23, OMIM:605192
Unexplained young onset end-stage renal disease - additional genes v0.120 ROBO2 Achchuthan Shanmugasundram Phenotypes for gene: ROBO2 were changed from Vesicoureteral reflux 2, 610878; Vesicoureteral Reflux to Vesicoureteral reflux 2, OMIM:610878
Unexplained young onset end-stage renal disease - additional genes v0.119 MYH11 Achchuthan Shanmugasundram Phenotypes for gene: MYH11 were changed from Megacystis-microcolon-intestinal hypoperistalsis syndrome to Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, OMIM:619351
Unexplained young onset end-stage renal disease - additional genes v0.118 DACT1 Achchuthan Shanmugasundram Phenotypes for gene: DACT1 were changed from TBS2; ?Townes-Brocks syndrome 2,617466 to Townes-Brocks syndrome 2, OMIM:617466
Unexplained young onset end-stage renal disease - additional genes v0.117 DACT1 Achchuthan Shanmugasundram Publications for gene: DACT1 were set to 19701191; 28054444; 22610794
Unexplained young onset end-stage renal disease - additional genes v0.116 COX10 Achchuthan Shanmugasundram Phenotypes for gene: COX10 were changed from Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due tocytochrome c oxidase deficiency; Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046 to Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046
Unexplained young onset end-stage renal disease - additional genes v0.115 CHD1L Achchuthan Shanmugasundram Phenotypes for gene: CHD1L were changed from Renal or urinary tract malformation (CAKUT); ORPHA93545 to congenital anomaly of kidney and urinary tract, MONDO:0019719
Unexplained young onset end-stage renal disease - additional genes v0.114 CHD1L Achchuthan Shanmugasundram Publications for gene: CHD1L were set to 24429398; 22146311
Unexplained young onset end-stage renal disease - additional genes v0.113 BMP4 Achchuthan Shanmugasundram Phenotypes for gene: BMP4 were changed from to Microphthalmia, syndromic 6, OMIM:607932
Unexplained young onset end-stage renal disease - additional genes v0.112 BICC1 Achchuthan Shanmugasundram Phenotypes for gene: BICC1 were changed from {Renal dysplasia, cystic, susceptibility to}, 601331 to {Renal dysplasia, cystic, susceptibility to}, OMIM:601331
Unexplained young onset end-stage renal disease - additional genes v0.111 ACTA2 Achchuthan Shanmugasundram Phenotypes for gene: ACTA2 were changed from Multi system smooth muscle dysfunction to Smooth muscle dysfunction syndrome, OMIM:613834
Unexplained young onset end-stage renal disease - additional genes v0.110 WDR72 Achchuthan Shanmugasundram Phenotypes for gene: WDR72 were changed from distal renal tubular acidosis, MONDO:0015827; hereditary distal renal tubular acidosis; Amelogenesis imperfecta, type IIA3, OMIM:613211; amelogenesis imperfecta hypomaturation type 2A3, MONDO:0013181 to distal renal tubular acidosis, MONDO:0015827; Amelogenesis imperfecta, type IIA3, OMIM:613211; amelogenesis imperfecta hypomaturation type 2A3, MONDO:0013181
Unexplained young onset end-stage renal disease - additional genes v0.109 WDR72 Achchuthan Shanmugasundram Publications for gene: WDR72 were set to 30779877; 33033857; 30028003; 31959358
Unexplained young onset end-stage renal disease - additional genes v0.108 TRAP1 Achchuthan Shanmugasundram Phenotypes for gene: TRAP1 were changed from CAKUT; VACTERL 192350 to CAKUT; VATER/VACTERL ASSOCIATION, OMIM:192350
Unexplained young onset end-stage renal disease - additional genes v0.107 TBX18 Achchuthan Shanmugasundram Phenotypes for gene: TBX18 were changed from Congenital anomalies of kidney and urinary tract 2 143400 to Congenital anomalies of kidney and urinary tract 2, OMIM:143400
Unexplained young onset end-stage renal disease - additional genes v0.106 TBX18 Achchuthan Shanmugasundram Publications for gene: TBX18 were set to
Unexplained young onset end-stage renal disease - additional genes v0.105 SIX5 Achchuthan Shanmugasundram Phenotypes for gene: SIX5 were changed from Branchiootorenal syndrome 2, 610896 to Branchiootorenal syndrome 2, OMIM:610896
Unexplained young onset end-stage renal disease - additional genes v0.104 SALL1 Achchuthan Shanmugasundram Phenotypes for gene: SALL1 were changed from Townes-Brocks branchiootorenal-like syndrome, 107480; Townes-Brocks syndrome, 107480; imperforate anus, ear abnormalities, thumb abnormalities to Townes-Brocks branchiootorenal-like syndrome, OMIM:107480; Townes-Brocks syndrome 1, OMIM:107480
Unexplained young onset end-stage renal disease - additional genes v0.103 RRM2B Achchuthan Shanmugasundram Phenotypes for gene: RRM2B were changed from Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic,renal tubulopathy), 612075 to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), OMIM:612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type), OMIM:612075; Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, OMIM:268315
Unexplained young onset end-stage renal disease - additional genes v0.102 RMND1 Achchuthan Shanmugasundram Publications for gene: RMND1 were set to 32911714; 31889854; 31568715
Unexplained young onset end-stage renal disease - additional genes v0.101 RET Achchuthan Shanmugasundram Deleted their comment
Unexplained young onset end-stage renal disease - additional genes v0.101 RET Achchuthan Shanmugasundram Added comment: Comment on phenotypes: 191830
Unexplained young onset end-stage renal disease - additional genes v0.101 RET Achchuthan Shanmugasundram Phenotypes for gene: RET were changed from {Hirschsprung disease, susceptibility to, 1}, 142623; Multiple endocrine neoplasia IIA, 171400; Renal Adysplasia; Pheochromocytoma, 171300; Renal agenesis, 191830; Central hypoventilation syndrome, congenital, 209880; Multiple endocrine neoplasia IIB, 162300; Medullary thyroid carcinoma, 155240 to {Hirschsprung disease, susceptibility to, 1}, OMIM:142623; Multiple endocrine neoplasia IIA, OMIM:171400; Multiple endocrine neoplasia IIB, OMIM:162300; Pheochromocytoma, OMIM:171300
Unexplained young onset end-stage renal disease - additional genes v0.100 PBX1 Achchuthan Shanmugasundram Phenotypes for gene: PBX1 were changed from CAKUT to Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, OMIM:617641
Unexplained young onset end-stage renal disease - additional genes v0.99 LRIG2 Achchuthan Shanmugasundram Phenotypes for gene: LRIG2 were changed from Congenital bladder disease: dyssynergic, high pressure bladder.; Urofacial syndrome; Urofacial syndrome 2 615112 to Urofacial syndrome 2, OMIM:615112; Congenital bladder disease: dyssynergic, high pressure bladder
Unexplained young onset end-stage renal disease - additional genes v0.98 LRIG2 Achchuthan Shanmugasundram Publications for gene: LRIG2 were set to Stuart HM, Roberts NA, Bergu B, Daly SB, Urquhart JE, Bhaskar S, Dickerson J, Mermerkaya M, Silay MS, Lewis MA, Olondriz BO, Gener B, Beetz C, Varga RE, G lp nar O, S er E, Yal nkaya F, G c k A, Yue WW, Erdogan F, Berry A, Hanley NA, McKenzie EA, Hilton EN, Woolf AS, Newman WG. LRIG2 mutations cause urofacial syndrome. Am J Hum Genet 92:259-264, 2013.
Unexplained young onset end-stage renal disease - additional genes v0.97 KYNU Achchuthan Shanmugasundram Phenotypes for gene: KYNU were changed from Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism); VACTERL-like phenotype; ?Hydroxykynureninuria, 236800; multiple congenital malformations to Vertebral, cardiac, renal, and limb defects syndrome 2, OMIM:617661
Unexplained young onset end-stage renal disease - additional genes v0.96 KYNU Achchuthan Shanmugasundram Publications for gene: KYNU were set to 28792876; 27604308; 17334708
Unexplained young onset end-stage renal disease - additional genes v0.95 ITGA8 Achchuthan Shanmugasundram Phenotypes for gene: ITGA8 were changed from Renal hypodysplasia/aplasia 1, 191830 to Renal hypodysplasia/aplasia 1, OMIM:191830
Unexplained young onset end-stage renal disease - additional genes v0.94 ISCA-37401-Loss Achchuthan Shanmugasundram Phenotypes for Region: ISCA-37401-Loss were changed from 194072; Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome to Wilms tumor, aniridia, genitourinary anomalies and impaired intellectual development syndrome, OMIM:194072
Unexplained young onset end-stage renal disease - additional genes v0.93 HPSE2 Achchuthan Shanmugasundram Phenotypes for gene: HPSE2 were changed from Urofacial Syndrome; Urofacial syndrome 1 236730; Congenital bladder disease: dyssynergic, high pressure bladder to Urofacial syndrome 1, OMIM:236730; Congenital bladder disease: dyssynergic, high pressure bladder
Unexplained young onset end-stage renal disease - additional genes v0.92 HAAO Achchuthan Shanmugasundram Phenotypes for gene: HAAO were changed from Multiple congenital malformations; VACTERL-like phenotype to Vertebral, cardiac, renal, and limb defects syndrome 1, OMIM:617660
Unexplained young onset end-stage renal disease - additional genes v0.91 HAAO Achchuthan Shanmugasundram Publications for gene: HAAO were set to 28792876; 27604308; 17334708
Unexplained young onset end-stage renal disease - additional genes v0.90 GRIP1 Achchuthan Shanmugasundram Phenotypes for gene: GRIP1 were changed from Fraser syndrome; isolated CAKUT; Fraser syndrome 219000 to Fraser syndrome 3, OMIM:617667
Unexplained young onset end-stage renal disease - additional genes v0.89 GATA3 Achchuthan Shanmugasundram Phenotypes for gene: GATA3 were changed from Hypoparathyroidism, Sensorineural Deafness, and Renal Disease; Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, OMIM:146255
Unexplained young onset end-stage renal disease - additional genes v0.88 FREM2 Achchuthan Shanmugasundram Phenotypes for gene: FREM2 were changed from Fraser syndrome; Fraser syndrome 219000 to Fraser syndrome 2, OMIM:617666
Unexplained young onset end-stage renal disease - additional genes v0.87 FREM1 Achchuthan Shanmugasundram Phenotypes for gene: FREM1 were changed from Bifid nose with or without anorectal and renal anomalies, 608980 to Bifid nose with or without anorectal and renal anomalies, OMIM:608980
Unexplained young onset end-stage renal disease - additional genes v0.86 FREM1 Achchuthan Shanmugasundram Publications for gene: FREM1 were set to PMID: 24700879
Unexplained young onset end-stage renal disease - additional genes v0.85 FREM1 Achchuthan Shanmugasundram Publications for gene: FREM1 were set to PMID: 24700879
Unexplained young onset end-stage renal disease - additional genes v0.84 FRAS1 Achchuthan Shanmugasundram Phenotypes for gene: FRAS1 were changed from Fraser syndrome; Fraser syndrome 219000 to Fraser syndrome 1, OMIM:219000
Unexplained young onset end-stage renal disease - additional genes v0.83 FAN1 Achchuthan Shanmugasundram Phenotypes for gene: FAN1 were changed from chronic kidney disease; karyomegalic interstitial nephritis, MONDO:0013898; interstitial nephritis; Interstitial nephritis, karyomegalic, OMIM:614817 to Interstitial nephritis, karyomegalic, OMIM:614817; karyomegalic interstitial nephritis, MONDO:0013898; chronic kidney disease
Unexplained young onset end-stage renal disease - additional genes v0.82 EYA1 Achchuthan Shanmugasundram Phenotypes for gene: EYA1 were changed from Anterior segment anomalies with or without cataract, 113650; Branchiootorenal Spectrum Disorders; Otofaciocervical syndrome, 166780; Branchiootorenal syndrome 1, with or without cataracts; Branchiootorenal syndrome 1, with or without cataracts, 113650; Branchiootic syndrome 1, 602588 to Branchiootorenal syndrome 1, with or without cataracts, OMIM:113650
Unexplained young onset end-stage renal disease - additional genes v0.81 DSTYK Achchuthan Shanmugasundram Phenotypes for gene: DSTYK were changed from vesicoureteric reflux; CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1; Renal hypodysplasia; {Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805; ureteropelvic junction obstruction; {Congenital anomalies of kidney and urinary tract, susceptibility to} to Congenital anomalies of kidney and urinary tract 1, OMIM:610805
Unexplained young onset end-stage renal disease - additional genes v0.80 CHRM3 Achchuthan Shanmugasundram Phenotypes for gene: CHRM3 were changed from Megacystis; Urinary Bladder Disease; Prune belly syndrome, OMIM:100100 to Prune belly syndrome, OMIM:100100; Megacystis; Urinary Bladder Disease
Unexplained young onset end-stage renal disease - additional genes v0.79 CHRM3 Achchuthan Shanmugasundram Publications for gene: CHRM3 were set to 31441039; 22077972; 10944224
Unexplained young onset end-stage renal disease - additional genes v0.78 CHD7 Achchuthan Shanmugasundram Phenotypes for gene: CHD7 were changed from CHARGE syndrome 214800 to CHARGE syndrome, OMIM:214800
Unexplained young onset end-stage renal disease - additional genes v0.77 C3 Achchuthan Shanmugasundram Phenotypes for gene: C3 were changed from C3 deficiency 613779 AR; {Hemolytic uremic syndrome, atypical, susceptibility to, 5} 612925 AD to C3 deficiency, OMIM:613779; {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, OMIM:612925
Unexplained young onset end-stage renal disease - additional genes v0.76 BNC2 Achchuthan Shanmugasundram Phenotypes for gene: BNC2 were changed from Congenital lower urinary-tract obstruction; Lower urinary tract obstruction, congenital, 618612; Posterior urethral valves; PUV to Lower urinary tract obstruction, congenital, OMIM:618612
Unexplained young onset end-stage renal disease - additional genes v0.75 ARMC9 Achchuthan Shanmugasundram Phenotypes for gene: ARMC9 were changed from Joubert syndrome 30, 617622 to Joubert syndrome 30, OMIM:617622
Unexplained young onset end-stage renal disease - additional genes v0.74 ANOS1 Achchuthan Shanmugasundram Phenotypes for gene: ANOS1 were changed from Kallman syndrome; Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) to Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), OMIM:308700
Unexplained young onset end-stage renal disease - additional genes v0.73 ACTG2 Achchuthan Shanmugasundram Publications for gene: ACTG2 were set to PMID: 25998219
Unexplained young onset end-stage renal disease - additional genes v0.72 AGTR1 Achchuthan Shanmugasundram Phenotypes for gene: AGTR1 were changed from Hypertension, essential, 145500; Renal Tubular Dysgenesis; Renal tubular dysgenesis, 267430 to Renal tubular dysgenesis, OMIM:267430
Unexplained young onset end-stage renal disease - additional genes v0.71 AGT Achchuthan Shanmugasundram Phenotypes for gene: AGT were changed from Renal tubular dysgenesis, 267430; Renal Tubular Dysgenesis; {Hypertension, essential, susceptibility to}, 145500{Preeclampsia, susceptibility to}Renal tubular dysgenesis, 267430 to Renal tubular dysgenesis, OMIM:267430
Unexplained young onset end-stage renal disease - additional genes v0.70 ACTG2 Achchuthan Shanmugasundram Phenotypes for gene: ACTG2 were changed from Berdon syndrome; visceral myopathy; Megacystis-microcolon intestinal hypoperistalsis syndrome; Visceral myopathy (Megacystis-microcolon intestinal hypoperistalsis syndrome, Berdon syndrome) 155310 to Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, OMIM:619431; Visceral myopathy 1, OMIM:155310; Berdon syndrome
Unexplained young onset end-stage renal disease - additional genes v0.69 ACE Achchuthan Shanmugasundram Phenotypes for gene: ACE were changed from {Myocardial infarction, susceptibility to}{Alzheimer disease, susceptibility to}, 104300{Microvascular complications of diabetes 3}, 612624[Angiotensin I-converting enzyme, benign serum increase]{SARS, progression of}Renal tubular; Renal Tubular Dysgenesis; Renal Tubular Dysgenesis 267430 to Renal tubular dysgenesis, OMIM:267430
Unexplained young onset end-stage renal disease - additional genes v0.68 ACE Achchuthan Shanmugasundram edited their review of gene: ACE: Changed phenotypes to: Renal tubular dysgenesis, OMIM:267430
Unexplained young onset end-stage renal disease - additional genes v0.68 ISCA-37401-Loss Achchuthan Shanmugasundram Triplosensitivity Score for ISCA-37401-Loss was changed from None to .
Unexplained young onset end-stage renal disease - additional genes v0.68 WDR72 Achchuthan Shanmugasundram Added phenotypes distal renal tubular acidosis, MONDO:0015827; hereditary distal renal tubular acidosis; Amelogenesis imperfecta, type IIA3, OMIM:613211; amelogenesis imperfecta hypomaturation type 2A3, MONDO:0013181 for gene: WDR72
Publications for gene: WDR72 were updated from 30028003; 30779877; 31959358; 33033857 to 30779877; 33033857; 30028003; 31959358
Unexplained young onset end-stage renal disease - additional genes v0.68 UPK3A Achchuthan Shanmugasundram Added phenotypes Renal Adysplasia for gene: UPK3A
Unexplained young onset end-stage renal disease - additional genes v0.68 TRAP1 Achchuthan Shanmugasundram Added phenotypes CAKUT; VACTERL 192350 for gene: TRAP1
Unexplained young onset end-stage renal disease - additional genes v0.68 TBX18 Achchuthan Shanmugasundram Added phenotypes Congenital anomalies of kidney and urinary tract 2 143400 for gene: TBX18
Unexplained young onset end-stage renal disease - additional genes v0.68 SOX17 Achchuthan Shanmugasundram Added phenotypes Vesicoureteral reflux 3, 613674 for gene: SOX17
Unexplained young onset end-stage renal disease - additional genes v0.68 SIX5 Achchuthan Shanmugasundram Added phenotypes Branchiootorenal syndrome 2, 610896 for gene: SIX5
Unexplained young onset end-stage renal disease - additional genes v0.68 SIX1 Achchuthan Shanmugasundram Added phenotypes Branchiootorenal Spectrum Disorders for gene: SIX1
Unexplained young onset end-stage renal disease - additional genes v0.68 SALL1 Achchuthan Shanmugasundram Added phenotypes Townes-Brocks branchiootorenal-like syndrome, 107480; Townes-Brocks syndrome, 107480; imperforate anus, ear abnormalities, thumb abnormalities for gene: SALL1
Unexplained young onset end-stage renal disease - additional genes v0.68 RRM2B Achchuthan Shanmugasundram Added phenotypes Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic,renal tubulopathy), 612075 for gene: RRM2B
Unexplained young onset end-stage renal disease - additional genes v0.68 ROBO2 Achchuthan Shanmugasundram Added phenotypes Vesicoureteral reflux 2, 610878; Vesicoureteral Reflux for gene: ROBO2
Unexplained young onset end-stage renal disease - additional genes v0.68 RMND1 Achchuthan Shanmugasundram Added phenotypes Combined oxidative phosphorylation deficiency 11, OMIM:614922 for gene: RMND1
Publications for gene: RMND1 were updated from 31568715; 31889854; 32911714 to 32911714; 31889854; 31568715
Unexplained young onset end-stage renal disease - additional genes v0.68 RET Achchuthan Shanmugasundram Added phenotypes {Hirschsprung disease, susceptibility to, 1}, 142623; Multiple endocrine neoplasia IIA, 171400; Renal Adysplasia; Pheochromocytoma, 171300; Renal agenesis, 191830; Central hypoventilation syndrome, congenital, 209880; Multiple endocrine neoplasia IIB, 162300; Medullary thyroid carcinoma, 155240 for gene: RET
Unexplained young onset end-stage renal disease - additional genes v0.68 PBX1 Achchuthan Shanmugasundram Added phenotypes CAKUT for gene: PBX1
Unexplained young onset end-stage renal disease - additional genes v0.68 MYH11 Achchuthan Shanmugasundram Added phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome for gene: MYH11
Unexplained young onset end-stage renal disease - additional genes v0.68 LRIG2 Achchuthan Shanmugasundram Added phenotypes Congenital bladder disease: dyssynergic, high pressure bladder.; Urofacial syndrome; Urofacial syndrome 2 615112 for gene: LRIG2
Unexplained young onset end-stage renal disease - additional genes v0.68 KYNU Achchuthan Shanmugasundram Added phenotypes Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism); VACTERL-like phenotype; ?Hydroxykynureninuria, 236800; multiple congenital malformations for gene: KYNU
Publications for gene: KYNU were updated from 27604308; 17334708; 28792876 to 28792876; 27604308; 17334708
Unexplained young onset end-stage renal disease - additional genes v0.68 ITGA8 Achchuthan Shanmugasundram Added phenotypes Renal hypodysplasia/aplasia 1, 191830 for gene: ITGA8
Unexplained young onset end-stage renal disease - additional genes v0.68 HPSE2 Achchuthan Shanmugasundram Added phenotypes Urofacial Syndrome; Urofacial syndrome 1 236730; Congenital bladder disease: dyssynergic, high pressure bladder for gene: HPSE2
Publications for gene: HPSE2 were updated from 20560210; 20560209 to 20560209; 20560210
Unexplained young onset end-stage renal disease - additional genes v0.68 HAAO Achchuthan Shanmugasundram Added phenotypes Multiple congenital malformations; VACTERL-like phenotype for gene: HAAO
Publications for gene: HAAO were updated from 27604308; 17334708; 28792876 to 28792876; 27604308; 17334708
Unexplained young onset end-stage renal disease - additional genes v0.68 GRIP1 Achchuthan Shanmugasundram Added phenotypes Fraser syndrome; isolated CAKUT; Fraser syndrome 219000 for gene: GRIP1
Publications for gene: GRIP1 were updated from 24700879; 14730302; 24357607; 22510445 to 14730302; 24357607; 24700879; 22510445
Unexplained young onset end-stage renal disease - additional genes v0.68 GLI3 Achchuthan Shanmugasundram Added phenotypes Pallister-Hall syndrome, OMIM:146510 for gene: GLI3
Unexplained young onset end-stage renal disease - additional genes v0.68 GATA3 Achchuthan Shanmugasundram Added phenotypes Hypoparathyroidism, Sensorineural Deafness, and Renal Disease; Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 for gene: GATA3
Unexplained young onset end-stage renal disease - additional genes v0.68 FREM2 Achchuthan Shanmugasundram Added phenotypes Fraser syndrome; Fraser syndrome 219000 for gene: FREM2
Unexplained young onset end-stage renal disease - additional genes v0.68 FREM1 Achchuthan Shanmugasundram Added phenotypes Bifid nose with or without anorectal and renal anomalies, 608980 for gene: FREM1
Unexplained young onset end-stage renal disease - additional genes v0.68 FRAS1 Achchuthan Shanmugasundram Added phenotypes Fraser syndrome; Fraser syndrome 219000 for gene: FRAS1
Unexplained young onset end-stage renal disease - additional genes v0.68 FAN1 Achchuthan Shanmugasundram Added phenotypes chronic kidney disease; karyomegalic interstitial nephritis, MONDO:0013898; interstitial nephritis; Interstitial nephritis, karyomegalic, OMIM:614817 for gene: FAN1
Unexplained young onset end-stage renal disease - additional genes v0.68 EYA1 Achchuthan Shanmugasundram Added phenotypes Anterior segment anomalies with or without cataract, 113650; Branchiootorenal Spectrum Disorders; Otofaciocervical syndrome, 166780; Branchiootorenal syndrome 1, with or without cataracts; Branchiootorenal syndrome 1, with or without cataracts, 113650; Branchiootic syndrome 1, 602588 for gene: EYA1
Unexplained young onset end-stage renal disease - additional genes v0.68 DSTYK Achchuthan Shanmugasundram Added phenotypes vesicoureteric reflux; CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1; Renal hypodysplasia; {Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805; ureteropelvic junction obstruction; {Congenital anomalies of kidney and urinary tract, susceptibility to} for gene: DSTYK
Unexplained young onset end-stage renal disease - additional genes v0.68 DACT1 Achchuthan Shanmugasundram Added phenotypes TBS2; ?Townes-Brocks syndrome 2,617466 for gene: DACT1
Publications for gene: DACT1 were updated from 28054444; 19701191; 22610794 to 19701191; 28054444; 22610794
Unexplained young onset end-stage renal disease - additional genes v0.68 COX10 Achchuthan Shanmugasundram Added phenotypes Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due tocytochrome c oxidase deficiency; Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046 for gene: COX10
Unexplained young onset end-stage renal disease - additional genes v0.68 CHRM3 Achchuthan Shanmugasundram Added phenotypes Megacystis; Urinary Bladder Disease; Prune belly syndrome, OMIM:100100 for gene: CHRM3
Publications for gene: CHRM3 were updated from 10944224; 22077972; 31441039 to 31441039; 22077972; 10944224
Unexplained young onset end-stage renal disease - additional genes v0.68 CHD7 Achchuthan Shanmugasundram Added phenotypes CHARGE syndrome 214800 for gene: CHD7
Unexplained young onset end-stage renal disease - additional genes v0.68 CHD1L Achchuthan Shanmugasundram Added phenotypes Renal or urinary tract malformation (CAKUT); ORPHA93545 for gene: CHD1L
Unexplained young onset end-stage renal disease - additional genes v0.68 BNC2 Achchuthan Shanmugasundram Added phenotypes Congenital lower urinary-tract obstruction; Lower urinary tract obstruction, congenital, 618612; Posterior urethral valves; PUV for gene: BNC2
Unexplained young onset end-stage renal disease - additional genes v0.68 BICC1 Achchuthan Shanmugasundram Added phenotypes {Renal dysplasia, cystic, susceptibility to}, 601331 for gene: BICC1
Unexplained young onset end-stage renal disease - additional genes v0.68 ARMC9 Achchuthan Shanmugasundram Added phenotypes Joubert syndrome 30, 617622 for gene: ARMC9
Unexplained young onset end-stage renal disease - additional genes v0.68 ANOS1 Achchuthan Shanmugasundram Added phenotypes Kallman syndrome; Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) for gene: ANOS1
Unexplained young onset end-stage renal disease - additional genes v0.68 AGTR1 Achchuthan Shanmugasundram Added phenotypes Hypertension, essential, 145500; Renal Tubular Dysgenesis; Renal tubular dysgenesis, 267430 for gene: AGTR1
Unexplained young onset end-stage renal disease - additional genes v0.68 AGT Achchuthan Shanmugasundram Added phenotypes Renal tubular dysgenesis, 267430; Renal Tubular Dysgenesis; {Hypertension, essential, susceptibility to}, 145500{Preeclampsia, susceptibility to}Renal tubular dysgenesis, 267430 for gene: AGT
Unexplained young onset end-stage renal disease - additional genes v0.68 ACTG2 Achchuthan Shanmugasundram Added phenotypes Berdon syndrome; visceral myopathy; Megacystis-microcolon intestinal hypoperistalsis syndrome; Visceral myopathy (Megacystis-microcolon intestinal hypoperistalsis syndrome, Berdon syndrome) 155310 for gene: ACTG2
Unexplained young onset end-stage renal disease - additional genes v0.68 ACTA2 Achchuthan Shanmugasundram Added phenotypes Multi system smooth muscle dysfunction for gene: ACTA2
Unexplained young onset end-stage renal disease - additional genes v0.68 ACE Achchuthan Shanmugasundram Added phenotypes {Myocardial infarction, susceptibility to}{Alzheimer disease, susceptibility to}, 104300{Microvascular complications of diabetes 3}, 612624[Angiotensin I-converting enzyme, benign serum increase]{SARS, progression of}Renal tubular; Renal Tubular Dysgenesis; Renal Tubular Dysgenesis 267430 for gene: ACE
Monogenic short stature v1.1 GH1 Adam Gunning reviewed gene: GH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Growth hormone deficiency; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v4.10 RPGRIP1 Achchuthan Shanmugasundram edited their review of gene: RPGRIP1: Added comment: The DDG2P mutation consequence for RPGRIP1-related retinal dystrophy, OMIM:608194 has been updated to absent gene product,altered gene product structure.; Changed publications to: 12920076, 11283794, 37761981, 11528500, 26992781; Changed phenotypes to: RPGRIP1-related retinal dystrophy, OMIM:608194, CONE-ROD DYSTROPHY 13, OMIM:608194, LEBER CONGENITAL AMAUROSIS 6, OMIM:613826
DDG2P v4.10 ODC1 Achchuthan Shanmugasundram edited their review of gene: ODC1: Added comment: The DDG2P mutation consequence for ODC1-related neurodevelopmental disorder has been updated to altered gene product structure.; Changed mode of pathogenicity: Other; Changed publications to: 36007106, 34477286, 37469105, 30475435; Changed phenotypes to: ODC1-related developmental disorder (monoallelic), ODC1-related neurodevelopmental disorder
DDG2P v4.10 NOVA2 Achchuthan Shanmugasundram edited their review of gene: NOVA2: Added comment: The DDG2P mutation consequence for NOVA2-associated neurodevelopmental disorder has been updated to altered gene product structure.; Changed mode of pathogenicity: Other; Changed publications to: 35607920, 32197073; Changed phenotypes to: Intellectual disability with ataxia/spasticity, NOVA2-associated neurodevelopmental disorder
DDG2P v4.10 EDAR Achchuthan Shanmugasundram edited their review of gene: EDAR: Added comment: The DDG2P mutation consequence for EDAR-related hypohidrotic ectodermal dysplasia, OMIM:129490 has been updated to absent gene product,altered gene product structure.; Changed publications to: 33943035, 28357203, 20033817, 18231121, 16435307, 16029325, 20979233, 19551394, 18816645, 26336973, 32819890, 21771270, 33205897, 17501952, 23210707, 32325225, 20199431, 32906216, 24641098, 10431241, 24764207, 24884697, 27168349, 15373768, 21876339, 31310406; Changed phenotypes to: EDAR-related hypohidrotic ectodermal dysplasia, OMIM:129490, EDAR-related hypohidrotic ectodermal dysplasia, OMIM:224900, Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, OMIM:224900, ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
DDG2P v4.10 ASAH1 Achchuthan Shanmugasundram edited their review of gene: ASAH1: Added comment: The DDG2P mutation consequence for ASAH1-related Farber lipogranulomatosis has been updated to absent gene product,altered gene product structure.; Changed publications to: 16951918, 32875576, 22703880, 10610716, 11241842, 8955159; Changed phenotypes to: SPINAL MUSCULAR ATROPHY ASSOCIATED WITH PROGRESSIVE MYOCLONIC EPILEPSY, OMIM:159950, FARBER LIPOGRANULOMATOSIS, OMIM:228000, ASAH1-related Farber lipogranulomatosis, OMIM:228000
DDG2P v4.10 ANKRD11 Achchuthan Shanmugasundram edited their review of gene: ANKRD11: Added comment: The DDG2P mutation consequence for KBG SYNDROME, OMIM:148050 has been updated to decreased gene product level.; Changed mode of pathogenicity: Other; Changed publications to: 35394473, 33262785, 27667800, 33476899, 26269249, 28449295, 37665295, 33653342, 30088855, 35682590, 35833929, 25543316, 28815928, 23494856, 28250421, 31566922, 25838844, 32820523, 25464108, 25652421, 33354850, 36584991, 36628575, 34547584, 33955014, 27900361, 34247373, 30877071, 29224748, 23184435, 35598261, 28566769, 25424714, 21782149
DDG2P v4.10 ZBTB47 Achchuthan Shanmugasundram reviewed gene: ZBTB47: Rating: RED; Mode of pathogenicity: Other; Publications: 38327012; Phenotypes: ZBTB47-related developmental delay, intellectual disability, hypotonia and seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 YWHAZ Achchuthan Shanmugasundram reviewed gene: YWHAZ: Rating: RED; Mode of pathogenicity: Other; Publications: 36001342; Phenotypes: YWHAZ-related developmental delay with simplified gyral pattern; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 UBE3C Achchuthan Shanmugasundram reviewed gene: UBE3C: Rating: RED; Mode of pathogenicity: ; Publications: 36401616; Phenotypes: UBE3C-related neurodevelopmental disorder with absent speech and movement and behavioural abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 RPH3A Achchuthan Shanmugasundram reviewed gene: RPH3A: Rating: RED; Mode of pathogenicity: Other; Publications: 37403762; Phenotypes: RPH3A-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 PPM1K Achchuthan Shanmugasundram reviewed gene: PPM1K: Rating: RED; Mode of pathogenicity: ; Publications: 23086801, 36706222; Phenotypes: PPM1K-related maple syrup urine disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 PABPC1 Achchuthan Shanmugasundram reviewed gene: PABPC1: Rating: RED; Mode of pathogenicity: Other; Publications: 35511136; Phenotypes: PABPC1-related developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 MKL2 Achchuthan Shanmugasundram reviewed gene: MKL2: Rating: RED; Mode of pathogenicity: Other; Publications: 37013900; Phenotypes: MRTFB-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 LSM11 Achchuthan Shanmugasundram reviewed gene: LSM11: Rating: RED; Mode of pathogenicity: Other; Publications: 33230297; Phenotypes: LSM11-related Aicardi-Goutieres syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 IKZF2 Achchuthan Shanmugasundram reviewed gene: IKZF2: Rating: RED; Mode of pathogenicity: Other; Publications: 37316189; Phenotypes: IKZF2-related ICHAD syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 FICD Achchuthan Shanmugasundram reviewed gene: FICD: Rating: RED; Mode of pathogenicity: Other; Publications: 36704923; Phenotypes: FICD-related infancy-onset diabetes and neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 DENND5B Achchuthan Shanmugasundram reviewed gene: DENND5B: Rating: RED; Mode of pathogenicity: Other; Publications: 38387458; Phenotypes: DENND5B-related neurodevelopmental disorder with cortical migration and white matter abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 CCDC78 Achchuthan Shanmugasundram edited their review of gene: CCDC78: Added comment: The DDG2P confidence category for the disease CCDC78-related congenital myopathy, OMIM:614807 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID: 22818856;25635128).; Changed rating: RED; Changed publications to: 22818856, 25635128; Changed phenotypes to: CONGENITAL MYOPATHY WITH PROMINENT INTERNAL NUCLEI AND ATYPICAL CORES, OMIM:614807, CCDC78-related congenital myopathy, OMIM:614807
DDG2P v4.10 ANGPT2 Achchuthan Shanmugasundram reviewed gene: ANGPT2: Rating: RED; Mode of pathogenicity: Other; Publications: 34876502; Phenotypes: ANGPT2-related non-immune hydrops fetalis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 AGPAT3 Achchuthan Shanmugasundram reviewed gene: AGPAT3: Rating: RED; Mode of pathogenicity: ; Publications: 37821758; Phenotypes: AGPAT3-related intellectual disability and retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 ZNF808 Achchuthan Shanmugasundram reviewed gene: ZNF808: Rating: GREEN; Mode of pathogenicity: ; Publications: 37308312, 37973953; Phenotypes: ZNF808-related pancreatic agenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 ZFHX3 Achchuthan Shanmugasundram edited their review of gene: ZFHX3: Added comment: The DDG2P confidence category for the disease ZFHX3-related neurodevelopmental disorder, OMIM:104155 is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and decreased gene product level (PMID: 38412861;30809043).; Changed rating: GREEN; Changed mode of pathogenicity: Other; Changed publications to: 30809043, 38412861, 32502225; Changed phenotypes to: ZFHX3-related neurodevelopmental disorder, OMIM:104155, ZFHX3-related developmental disorder (monoallelic)
DDG2P v4.10 ZBTB11 Achchuthan Shanmugasundram reviewed gene: ZBTB11: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31130284, 35104841, 36068688, 29893856, 38899514; Phenotypes: ZBTB11-related neurodevelopmental disorder with or without cataracts and movement disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 YWHAE Achchuthan Shanmugasundram reviewed gene: YWHAE: Rating: GREEN; Mode of pathogenicity: ; Publications: 36999555; Phenotypes: YWHAE-related developmental delay, seizures, hypotonia and brain abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 WNT7B Achchuthan Shanmugasundram reviewed gene: WNT7B: Rating: GREEN; Mode of pathogenicity: ; Publications: 35790350; Phenotypes: WNT7B-related PDAC syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 U2AF2 Achchuthan Shanmugasundram edited their review of gene: U2AF2: Added comment: The DDG2P confidence category for the disease U2AF2-related neurodevelopmental disorder is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 34112922;37962958;36747105;33644862;33057194).; Changed publications to: 36747105, 33057194, 37962958, 33644862, 34112922; Changed phenotypes to: U2AF2-related developmental disorder (monoallelic), U2AF2-related neurodevelopmental disorder
DDG2P v4.10 TUBA1A Achchuthan Shanmugasundram edited their review of gene: TUBA1A: Added comment: The DDG2P confidence category for the disease TUBA1A-associated tubulinopathy, OMIM:611603 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 33649541;35686685;17218254;18954413;18728072;30744660;30016746;17584854;21403111).; Changed mode of pathogenicity: Other; Changed publications to: 30744660, 17218254, 30016746, 18954413, 21403111, 33649541, 18728072, 17584854, 35686685; Changed phenotypes to: TUBA1A-associated tubulinopathy, OMIM:611603, INTELLECTUAL DISABILITY, OMIM:616579, LISSENCEPHALY TYPE 3, OMIM:611603
DDG2P v4.10 TTI1 Achchuthan Shanmugasundram reviewed gene: TTI1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36724785; Phenotypes: TTI1-related microcephaly, intellectual disability and ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 TSPEAR Achchuthan Shanmugasundram reviewed gene: TSPEAR: Rating: GREEN; Mode of pathogenicity: ; Publications: 34042254, 27736875, 37009414; Phenotypes: TSPEAR-related ectodermal dysplasia and tooth agenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 TOR1A Achchuthan Shanmugasundram reviewed gene: TOR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 30244176, 33175450, 33832800, 28516161, 36757831; Phenotypes: TOR1A-associated arthrogryposis multiplex congenita (AR); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 TMEM63B Achchuthan Shanmugasundram reviewed gene: TMEM63B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37421948; Phenotypes: TMEM63B-related developmental and epileptic encephalopathy with anaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 TFE3 Achchuthan Shanmugasundram edited their review of gene: TFE3: Added comment: The DDG2P confidence category for the disease TFE3-related intellectual disability with pigmentary mosaicism and coarse features is definitive. The allelic requirement and mutation consequence are monoallelic_X_het and altered gene product structure (PMID: 33057194;31833172;32409512;30595499).; Changed publications to: 31833172, 32409512, 30595499, 33057194; Changed phenotypes to: TFE3-related intellectual disability with pigmentary mosaicism, TFE3-related intellectual disability with pigmentary mosaicism and coarse features, Intellectual disability with pigmentary mosaicism and storage disorder
DDG2P v4.10 TERT Achchuthan Shanmugasundram edited their review of gene: TERT: Added comment: The DDG2P confidence category for the disease Dyskeratosis Congenita, OMIM:613989 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure (PMID: 16247010;30523342;25067791;35927969). The DDG2P confidence category for the disease TERT-related Dyskeratosis congenita, OMIM:613989 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID: 35477117;34890115;26546739;17785587).; Changed publications to: 30523342, 26546739, 35477117, 34890115, 16247010, 25067791, 17785587, 35927969; Changed phenotypes to: Dyskeratosis Congenita, OMIM:613989, Dyskeratosis congenita, autosomal recessive 4, TERT-related Dyskeratosis congenita, OMIM:613989; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v4.10 TDRD7 Achchuthan Shanmugasundram edited their review of gene: TDRD7: Added comment: The DDG2P confidence category for the disease TDRD7-related cataract with or without azoospermia, OMIM:613887 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;uncertain (PMID: 21436445;28418495;31048812).; Changed rating: GREEN; Changed publications to: 31048812, 21436445, 28418495; Changed phenotypes to: TDRD7-related cataract with or without azoospermia, OMIM:613887, CATARACT CONGENITAL AUTOSOMAL RECESSIVE TYPE 4, OMIM:613887
DDG2P v4.10 TDP2 Achchuthan Shanmugasundram reviewed gene: TDP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 34606976, 31410782, 32651480, 30109272, 24658003; Phenotypes: TDP2-related spinocerebellar ataxia with seizures and developmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 TBC1D32 Achchuthan Shanmugasundram reviewed gene: TBC1D32: Rating: GREEN; Mode of pathogenicity: ; Publications: 31585110, 32573025, 36826837, 32060556, 24285566; Phenotypes: TBC1D32-related ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 STX1A Achchuthan Shanmugasundram reviewed gene: STX1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 36564538; Phenotypes: STX1A-associated neurodevelopmental disorder with epilepsy, STX1A-associated neurodevelopmental disorder without epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 SNAPC4 Achchuthan Shanmugasundram reviewed gene: SNAPC4: Rating: GREEN; Mode of pathogenicity: ; Publications: 22222761, 36965478; Phenotypes: SNAPC4-related neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction, OMIM:620515; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 SLC18A2 Achchuthan Shanmugasundram reviewed gene: SLC18A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23363473, 36318270; Phenotypes: SLC18A2-related neurotransmitter disorder with dystonia and oculogyric crisis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 SCAPER Achchuthan Shanmugasundram edited their review of gene: SCAPER: Added comment: The DDG2P confidence category for the disease SCAPER-related neurodevelopmental disorder and retinitis pigmentosa is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure;decreased gene product level (PMID: 28041643;28794130;31069901;21937992;31192531;30561111;30723319;37160720;29302074).; Changed rating: GREEN; Changed publications to: 37160720, 28794130, 29302074, 31069901, 28041643, 30561111, 30723319, 21937992, 31192531; Changed phenotypes to: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, SCAPER-related neurodevelopmental disorder and retinitis pigmentosa
DDG2P v4.10 SART3 Achchuthan Shanmugasundram reviewed gene: SART3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37296101; Phenotypes: SART3-related neurodevelopmental disorder with 46,XY gonadal dysgenesis (INDYGON); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 RTEL1 Achchuthan Shanmugasundram edited their review of gene: RTEL1: Added comment: The DDG2P confidence category for the disease RTEL1-related dyskeratosis congenita is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 23329068;23453664). The DDG2P confidence category for the disease RTEL1-related dyskeratosis congenita is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure (PMID: 23329068;23453664).; Changed publications to: 23329068, 23453664; Changed phenotypes to: RTEL1-related dyskeratosis congenita, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, OMIM:615190
DDG2P v4.10 RRAGC Achchuthan Shanmugasundram reviewed gene: RRAGC: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37057673, 27234373; Phenotypes: RRAGC-related congenital dilated cardiomyopathy with hyperlactatemia, deranged liver function and cataracts; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 RPS6KA3 Achchuthan Shanmugasundram edited their review of gene: RPS6KA3: Added comment: The DDG2P confidence category for the disease RPS6KA3-related Coffin-Lowry syndrome, OMIM:303600 is definitive. The allelic requirement and mutation consequence are monoallelic_X_het and absent gene product;altered gene product structure (PMID: 14986828;10094187;9837815;32858545;26297997;8955270;35888677;11180593;15214012;16879200; 11992250;35038833;23261961;36125370;16691578;31400131;12558110;29678278;9887375;10319851;17717706;26043507;21614984;25044551; 12439904;10528858;17100996).; Changed publications to: 9887375, 17717706, 11180593, 31400131, 15214012, 26297997, 32858545, 14986828, 35038833, 12439904, 26043507, 23261961, 29678278, 35888677, 17100996, 11992250, 16879200, 10094187, 16691578, 9837815, 12558110, 10319851, 36125370, 21614984, 10528858, 25044551, 8955270; Changed phenotypes to: Coffin-Lowry Syndrome 2 RPS6KA3 XLD, Coffin-Lowry Syndrome 2 RPS6KA3 XLR, RPS6KA3-related Coffin-Lowry syndrome, OMIM:303600
DDG2P v4.10 RPL26 Achchuthan Shanmugasundram commented on gene: RPL26: The DDG2P confidence category for the disease DIAMOND-BLACKFAN ANEMIA 11, OMIM:614900 is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID: 22431104).
DDG2P v4.10 RNU4-2 Achchuthan Shanmugasundram reviewed gene: RNU4-2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 38821540, 38991538; Phenotypes: RNU4-2 related neurodevelopmental disorder with microcephaly and seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 RNH1 Achchuthan Shanmugasundram reviewed gene: RNH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36935417, 37191094; Phenotypes: RNH1-related susceptibility to infection-related encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 RABGAP1 Achchuthan Shanmugasundram reviewed gene: RABGAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36083289; Phenotypes: RABGAP1-related neurodevelopmental disorder with microcephaly and sensorineural hearing loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 RAB34 Achchuthan Shanmugasundram reviewed gene: RAB34: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37619988, 37384395; Phenotypes: RAB34-related orofaciodigital syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 PSMC3 Achchuthan Shanmugasundram reviewed gene: PSMC3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37256937; Phenotypes: PSMC3-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 PRRX1 Achchuthan Shanmugasundram edited their review of gene: PRRX1: Added comment: The DDG2P confidence category for the disease PRRX1-related craniosynostosis is moderate. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure;decreased gene product level and incomplete penetrance(PMID: 37154149). The DDG2P confidence category for the disease AGNATHIA-OTOCEPHALY COMPLEX monoallelic is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 22211708;22674740;21294718;23444262;37154149). The DDG2P confidence category for the disease AGNATHIA-OTOCEPHALY COMPLEX biallelic is limited. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID: 22211708;23444262).; Changed rating: GREEN; Changed publications to: 37154149, 22674740, 22211708, 23444262, 21294718; Changed phenotypes to: AGNATHIA-OTOCEPHALY COMPLEX biallelic, AGNATHIA-OTOCEPHALY COMPLEX monoallelic, PRRX1-related craniosynostosis; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 PRPF19 Achchuthan Shanmugasundram reviewed gene: PRPF19: Rating: GREEN; Mode of pathogenicity: ; Publications: 37962958; Phenotypes: PRPF19-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 PPFIA3 Achchuthan Shanmugasundram reviewed gene: PPFIA3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 38181735; Phenotypes: PPFIA3-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 POMGNT2 Achchuthan Shanmugasundram commented on gene: POMGNT2: The DDG2P confidence category for the disease WALKER WARBERG SYNDROME, OMIM:614830 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 22958903).
DDG2P v4.10 POLA1 Achchuthan Shanmugasundram edited their review of gene: POLA1: Added comment: The DDG2P confidence category for the disease POLA1-related pigmentary disorder, reticulate, with systemic manifestations is definitive. The allelic requirement and mutation consequence are monoallelic_X_hem and absent gene product (PMID: 27019277). The DDG2P confidence category for the disease VAN ESCH-O'DRISCOLL SYNDROME, OMIM:301030 is definitive. The allelic requirement and mutation consequence are monoallelic_X_hem and absent gene product (PMID: 31006512).; Changed publications to: 27019277, 31006512; Changed phenotypes to: VAN ESCH-O'DRISCOLL SYNDROME, OMIM:301030, POLA1-related pigmentary disorder, reticulate, with systemic manifestations
DDG2P v4.10 PLAG1 Achchuthan Shanmugasundram reviewed gene: PLAG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33291420, 34480472; Phenotypes: PLAG1-associated Silver Russell Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 PIP5K1C Achchuthan Shanmugasundram edited their review of gene: PIP5K1C: Added comment: The DDG2P confidence category for the disease PIP5K1C-associated neurodevelopmental disorder is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 37451268). The DDG2P confidence category for the disease LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3, OMIM:611369 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure.; Changed rating: GREEN; Changed publications to: 37451268; Changed phenotypes to: LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3, OMIM:611369, PIP5K1C-associated neurodevelopmental disorder; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 PIGP Achchuthan Shanmugasundram reviewed gene: PIGP: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334793, 31139695, 32042915, 37125481; Phenotypes: PIGP-associated multiple congenital anomalies-hypotonia-seizures syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 PHF5A Achchuthan Shanmugasundram reviewed gene: PHF5A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37422718, 33811463; Phenotypes: PHF5A-related neurodevelopmental disorder with congenital malformations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 PEX14 Achchuthan Shanmugasundram edited their review of gene: PEX14: Added comment: The DDG2P confidence category for the disease PEX14-related autosomal dominant Zellweger spectrum disorder is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 37493040). The DDG2P confidence category for the disease PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP K, OMIM:601791 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product.; Changed publications to: 37493040; Changed phenotypes to: PEX14-related autosomal dominant Zellweger spectrum disorder, PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP K, OMIM:601791
DDG2P v4.10 PAX1 Achchuthan Shanmugasundram edited their review of gene: PAX1: Added comment: The DDG2P confidence category for the disease OTOFACIOCERVICAL SYNDROME, OMIM:166780 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 28657137;23851939;29681087). The DDG2P confidence category for the disease PAX1-related oculo-auriculo-vertebral syndrome is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product.; Changed publications to: 28657137, 29681087, 23851939; Changed phenotypes to: OTOFACIOCERVICAL SYNDROME, OMIM:166780, PAX1-related oculo-auriculo-vertebral syndrome
DDG2P v4.10 NLGN4X Achchuthan Shanmugasundram edited their review of gene: NLGN4X: Added comment: The DDG2P confidence category for the disease NLGN4X-related autism and intellectual disability, OMIM:300495 is strong. The allelic requirement and mutation consequence are monoallelic_X_het and absent gene product (PMID: 33369065;12669065;16648374;28263302;14963808;26350204;23352163;32243781).; Changed rating: GREEN; Changed publications to: 32243781, 33369065, 28263302, 14963808, 23352163, 16648374, 12669065, 26350204; Changed phenotypes to: SUSCEPTIBILITY TO AUTISM X-LINKED TYPE 2, OMIM:300495, NLGN4X-related autism and intellectual disability, OMIM:300495; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v4.10 NDST1 Achchuthan Shanmugasundram edited their review of gene: NDST1: Added comment: The DDG2P confidence category for the disease NDST1-related intellectual disability with or without seizures is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID: 38129107;27620904;31164858;21937992;28600779;32878022;25125150;28211985).; Changed rating: GREEN; Changed publications to: 27620904, 31164858, 38129107, 28211985, 28600779, 32878022, 21937992, 25125150; Changed phenotypes to: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, NDST1-related intellectual disability with or without seizures
DDG2P v4.10 NALCN Achchuthan Shanmugasundram edited their review of gene: NALCN: Added comment: The DDG2P confidence category for the disease CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, OMIM:616266 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 25683120). The DDG2P confidence category for the disease NALCN-related temporal lobe epilepsy is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 37046053). The DDG2P confidence category for the disease HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES, OMIM:615419 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 23749988;24075186).; Changed publications to: 25683120, 23749988, 37046053, 24075186; Changed phenotypes to: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES, OMIM:615419, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, OMIM:616266, NALCN-related temporal lobe epilepsy
DDG2P v4.10 MYH8 Achchuthan Shanmugasundram edited their review of gene: MYH8: Added comment: The DDG2P confidence category for the disease MYH8-related Trismus-pseudocamptodactyly syndrome is strong. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product;altered gene product structure and potential IF (PMID: 18049072;17041932;20949528).; Changed rating: GREEN; Changed publications to: 18049072, 15282353, 28377322, 17041932, 20949528; Changed phenotypes to: CARNEY COMPLEX VARIANT, OMIM:608837, DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300, MYH8-related Trismus-pseudocamptodactyly syndrome
DDG2P v4.10 MYH10 Achchuthan Shanmugasundram edited their review of gene: MYH10: Added comment: The DDG2P confidence category for the disease MYH10-related Multiple congenital anomalies is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID: 35980381;25356899;25003005).; Changed rating: GREEN; Changed publications to: 25356899, 35980381, 25003005
DDG2P v4.10 MTFMT Achchuthan Shanmugasundram reviewed gene: MTFMT: Rating: GREEN; Mode of pathogenicity: ; Publications: 30911575, 23499752, 21907147, 24461907, 32133637; Phenotypes: MTFMT-related mitochondrial disease with regression and lactic acidosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 MAST3 Achchuthan Shanmugasundram reviewed gene: MAST3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 34185323, 35095415; Phenotypes: MAST3-related developmental and epileptic encephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 MAP4K4 Achchuthan Shanmugasundram reviewed gene: MAP4K4: Rating: GREEN; Mode of pathogenicity: ; Publications: 36469137, 28518170, 37126546; Phenotypes: MAP4K4-related neurodevelopmental disorder with/without congenital anomalies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 LRP5 Achchuthan Shanmugasundram edited their review of gene: LRP5: Added comment: The DDG2P confidence category for the disease LRP5 - OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME on a spectrum with FEVR with osteopenia, OMIM:259770 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 11719191;15346351;17437160;16929062;18825883;17353424;16679074;20034086). The DDG2P confidence category for the disease LRP5-related osteopetrosis, OMIM:601884 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 14727154;12579474;11741193). The DDG2P confidence category for the disease LRP5-related exudative vitreoretinopathy, OMIM:601813 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID: 9831343;15981244;15346351;9056564;15024691).; Changed publications to: 17437160, 11719191, 14727154, 9831343, 18825883, 16679074, 17353424, 12579474, 15981244, 20034086, 16929062, 11741193, 15346351, 9056564, 15024691; Changed phenotypes to: LRP5-related exudative vitreoretinopathy, OMIM:601813, LRP5 - OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME on a spectrum with FEVR with osteopenia, OMIM:259770, HIGH BONE MASS TRAIT, OMIM:601884, ENDOSTEAL HYPEROSTOSIS WORTH TYPE, OMIM:144750, LRP5-related osteopetrosis, OMIM:601884, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, OMIM:259770, OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1, OMIM:607634, VITREORETINOPATHY EXUDATIVE TYPE 4, OMIM:601813
DDG2P v4.10 LMOD2 Achchuthan Shanmugasundram reviewed gene: LMOD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 35188328, 34888509, 35082396, 31517052, 37296576; Phenotypes: LMOD2-related infantile dilated cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 LHX2 Achchuthan Shanmugasundram reviewed gene: LHX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 37057675; Phenotypes: LHX2-related neurodevelopmental disorder with or without microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 LEF1 Achchuthan Shanmugasundram reviewed gene: LEF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35583550; Phenotypes: LEF1-related ectodermal dysplasia and limb malformation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 KLHL7 Achchuthan Shanmugasundram edited their review of gene: KLHL7: Added comment: The DDG2P confidence category for the disease KLHL7-related PERCHING syndrome (developmental delay, dysmorphism, feeding and respiratory difficulties, hypotonia, and joint contractures) is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure;uncertain (PMID: 38333279;30300710;27392078;30142437;35699517;29074562;37076692;35670385;30997404;31953236).; Changed publications to: 35670385, 30997404, 31953236, 35699517, 30142437, 30300710, 37076692, 29074562, 38333279, 27392078; Changed phenotypes to: KLHL7-related PERCHING syndrome (developmental delay, dysmorphism, feeding and respiratory difficulties, hypotonia, and joint contractures), Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa, Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa)
DDG2P v4.10 KLHL20 Achchuthan Shanmugasundram reviewed gene: KLHL20: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36214804; Phenotypes: KLHL20-related developmental disorder with seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 KCTD7 Achchuthan Shanmugasundram edited their review of gene: KCTD7: Added comment: The DDG2P confidence category for the disease KCTD7-related progressive myoclonic epilepsy, OMIM:611726 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 22693283;17455289;32412666;38231304;35921411;30295347;22748208;30500434).; Changed publications to: 30295347, 30500434, 17455289, 22748208, 35921411, 32412666, 38231304, 22693283; Changed phenotypes to: NEURONAL CEROID LIPOFUSCINOSIS, KCTD7-related progressive myoclonic epilepsy, OMIM:611726, PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3, OMIM:611726
DDG2P v4.10 KCNN2 Achchuthan Shanmugasundram reviewed gene: KCNN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33242881; Phenotypes: KCNN2-related neurodevelopmental disorder with or without movement disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 KCNK3 Achchuthan Shanmugasundram edited their review of gene: KCNK3: Added comment: The DDG2P confidence category for the disease KCNK3-associated developmental delay with sleep apnea is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 36195757;33057194).; Changed publications to: 36195757, 33057194; Changed phenotypes to: KCNK3-related developmental disorder (monoallelic), KCNK3-associated developmental delay with sleep apnea
DDG2P v4.10 KCND2 Achchuthan Shanmugasundram reviewed gene: KCND2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 34245260, 24501278; Phenotypes: KCND2-related neurodevelopmental disorder with or without seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 INTS11 Achchuthan Shanmugasundram reviewed gene: INTS11: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37054711, 37980560; Phenotypes: INTS11-related neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 INTS1 Achchuthan Shanmugasundram reviewed gene: INTS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28542170, 30622326, 31428919; Phenotypes: INTS1-related neurodevelopmental disorder with cataracts, hypotonia and gait abnormality; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 IER3IP1 Achchuthan Shanmugasundram reviewed gene: IER3IP1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36416459, 22991235, 24138066, 21835305, 28711742; Phenotypes: IER3IP1-related microcephaly with simplified gyral pattern, epilepsy, and neonatal diabetes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 HMGCR Achchuthan Shanmugasundram reviewed gene: HMGCR: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37167966, 36745799; Phenotypes: HMGCR-related limb-girdle muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 HECTD4 Achchuthan Shanmugasundram reviewed gene: HECTD4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36401616; Phenotypes: HECTD4-related neurodevelopmental disorder with seizures, hypotonia, spasticity, and agenesis of the corpus callosum; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 HCCS Achchuthan Shanmugasundram edited their review of gene: HCCS: Added comment: The DDG2P confidence category for the disease HCCS-related linear skin defects with microphthalmia, OMIM:309801 is moderate. The allelic requirement and mutation consequence are monoallelic_X_het and absent gene product (PMID: 17893649;24735900;17033964).; Changed publications to: 17893649, 24735900, 17033964; Changed phenotypes to: HCCS-related linear skin defects with microphthalmia, OMIM:309801, MICROPHTHALMIA SYNDROMIC TYPE 7, OMIM:309801
DDG2P v4.10 GTPBP1 Achchuthan Shanmugasundram reviewed gene: GTPBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 38118446; Phenotypes: GTPBP1-related neurodevelopmental disorder with severe-profound intellectual disability, spasticity and ectodermal features.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 GJA1 Achchuthan Shanmugasundram edited their review of gene: GJA1: Added comment: The DDG2P confidence category for the disease HYPOPLASTIC LEFT HEART SYNDROME, OMIM:241550 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 11470490). The DDG2P confidence category for the disease HALLERMANN-STREIFF SYNDROME, OMIM:234100 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID: 14974090;14981729). The DDG2P confidence category for the disease GJA1-related oculodentodigital dysplasia, OMIM:164200 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 15512999;16816024;14974090;20597923;12457340;36396593;23606748;29902798). The DDG2P confidence category for the disease GJA1-related oculodentodigital dysplasia, OMIM:164200 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 18425059;7815444;17256797;19338053;12457340;2309863;30204976;28319210;19808103;31347275; 27241686;24434540;16378922;28258662;2157843;15637728;25327171;19847613;28491627;22214631;4209752;16219735;18412120; 34035645;30610049;25976645;16222672;18161618;15551259;21670345;23550541;19638688;30628995;24508941;18946008; 26087145;15108203;29653008;26444782;14729836;16709485).; Changed publications to: 18412120, 26444782, 17256797, 31347275, 19638688, 23606748, 2309863, 29902798, 16378922, 11470490, 30204976, 26087145, 25327171, 15512999, 25976645, 18946008, 20597923, 30610049, 36396593, 4209752, 14729836, 19338053, 34035645, 22214631, 19808103, 14981729, 18161618, 16219735, 28491627, 16816024, 24434540, 2157843, 23550541, 28319210, 24508941, 16222672, 12457340, 7815444, 15108203, 18425059, 28258662, 29653008, 27241686, 21670345, 14974090, 30628995, 16709485, 15637728, 15551259, 19847613; Changed phenotypes to: HYPOPLASTIC LEFT HEART SYNDROME, OMIM:241550, HALLERMANN-STREIFF SYNDROME, OMIM:234100, SYNDACTYLY TYPE 3, OMIM:186100, AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, OMIM:257850, AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA, OMIM:164200, GJA1-related oculodentodigital dysplasia, OMIM:164200
DDG2P v4.10 GABRA2 Achchuthan Shanmugasundram reviewed gene: GABRA2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29422393, 29961870, 31032849; Phenotypes: GABRA2-related epileptic encephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 FOXP4 Achchuthan Shanmugasundram edited their review of gene: FOXP4: Added comment: The DDG2P confidence category for the disease FOXP4-related Developmental Disorder is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 36301021;33110267).; Changed rating: GREEN; Changed mode of pathogenicity: Other; Changed publications to: 33110267, 36301021
DDG2P v4.10 FOSL2 Achchuthan Shanmugasundram reviewed gene: FOSL2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36197437; Phenotypes: FOSL2-related neurodevelopmental disorder with scalp and enamel defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 FILIP1 Achchuthan Shanmugasundram reviewed gene: FILIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36943452; Phenotypes: FILIP1-related arthrogryposis multiplex congenita with microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 FIBP Achchuthan Shanmugasundram reviewed gene: FIBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 26660953, 38102793, 36919607, 27183861, 37218527, 37876348; Phenotypes: FIBP-related overgrowth syndrome with developmental delay (Thauvin-Robinet-Faivre syndrome); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 FGFR2 Achchuthan Shanmugasundram edited their review of gene: FGFR2: Added comment: The DDG2P confidence category for the disease ANTLEY-BIXLER SYNDROME, OMIM:207410 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 9605588). The DDG2P confidence category for the disease FGFR2-related Pfeiffer syndrome, OMIM:101600 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 10945669;9475591;11556600;11380927;10731087;7719333;10394936;9457499;11807866;9150725). The DDG2P confidence category for the disease CROUZON SYNDROME, OMIM:123500 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 7581378;7987400;9152842;15523492;7874170;8956050;22038757;7607643;7655462;9677057;7773284;10574673;7558045;8528214;17621648). The DDG2P confidence category for the disease APERT SYNDROME, OMIM:101200 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 7719344;8651276;9452027;9002682;9217234;7668257;9973282). The DDG2P confidence category for the disease JACKSON-WEISS SYNDROME, OMIM:123150 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 9385368;7874170). The DDG2P confidence category for the disease BEARE-STEVENSON CUTIS GYRATA SYNDROME, OMIM:123790 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 9545103;12000365;8696350;19610084). The DDG2P confidence category for the disease FGFR2-related lacrimo-auriculo-dento-digital syndrome, OMIM:149730 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure;uncertain.; Changed publications to: 17621648, 12000365, 10394936, 11807866, 9475591, 19610084, 8528214, 9385368, 10574673, 9150725, 10731087, 22038757, 15523492, 9457499, 7668257, 8956050, 7607643, 9002682, 7874170, 8696350, 7558045, 9217234, 8651276, 9605588, 7581378, 9973282, 9452027, 9677057, 7719344, 7719333, 7655462, 9152842, 7987400, 10945669, 9545103, 11380927, 11556600, 7773284; Changed phenotypes to: FGFR2-related lacrimo-auriculo-dento-digital syndrome, OMIM:149730, FGFR2-related Pfeiffer syndrome, OMIM:101600, LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME, OMIM:149730, ANTLEY-BIXLER SYNDROME, OMIM:207410, ACROCEPHALOSYNDACTYLY TYPE V, OMIM:101600, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OMIM:123790, CROUZON SYNDROME, OMIM:123500, JACKSON-WEISS SYNDROME, OMIM:123150, APERT SYNDROME, OMIM:101200
DDG2P v4.10 FDXR Achchuthan Shanmugasundram reviewed gene: FDXR: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30250212, 28965846, 33938912, 32499495; Phenotypes: FDXR-related optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 FBN1 Achchuthan Shanmugasundram edited their review of gene: FBN1: Added comment: The DDG2P confidence category for the disease FBN1-related Marfan syndrome, OMIM:154700 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure (PMID: 12161601;11391655;11710961;18412115;15287423;15032979;17679947;8430317; 8004112;7945217;11175294;12402346;17663468;17189636;15054843;10090884;10766875;23103230;23023332;14695540;17366579; 12413333;11524736;10694921;11453977;1569206;8863159;12446365;8136837;17657824;7633409;16930007;7911051;20979188;8281141; 17701892;14586646;8882780;8428751;10756346;37684520;1631074;8504310;7611299;10364683;7762551;21594993;1301946;7915876;8040326; 8071963;8101042;16617303;10189089;12890380;11700157;16220557;9101298;8406497;10441700;12203992;10425041;7870075;17492313; 21594992;17568394;12915484;11702223;9837823;35058154;15241795;16222657;9241263;20082464;7622614;10721679;10441597; 15161620;11139245;16333834;9452085;1852208). The DDG2P confidence category for the disease FBN1-related Weill-Marchesani syndrome, OMIM:608328 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 12525539;22242013;25142510;28696036;23897642;8406497;37734846;34075901). The DDG2P confidence category for the disease FBN1-related Marfan syndrome, OMIM:154700 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 8428751;1631074;8504310;7611299;21594993;7762551;24698609;18412115;15287423;15032979;1301946;31950671;8040326;8430317; 8101042;28636274;27582083;9101298;8406497;20886638;11175294;7977366;10766875;17492313;21594992;17568394;17366579; 11702223;19059503;33436942;9837823;23278365;1569206;8136837;9241263;7633409;20082464;10441597;7911051;20979188; 8281141;8880577;16333834;1852208).; Changed publications to: 10189089, 17568394, 10441700, 8882780, 17679947, 8101042, 7911051, 8430317, 23897642, 18412115, 20979188, 11710961, 8071963, 15161620, 24698609, 28696036, 12203992, 10756346, 16617303, 27582083, 7611299, 37684520, 16222657, 16220557, 37734846, 34075901, 25142510, 15032979, 20082464, 14586646, 22242013, 15287423, 17657824, 17701892, 10090884, 11453977, 31950671, 19059503, 10721679, 9101298, 12890380, 11700157, 10441597, 7945217, 20886638, 7633409, 17492313, 12413333, 11702223, 12446365, 1301946, 1569206, 17366579, 7622614, 8281141, 10694921, 35058154, 7870075, 33436942, 8040326, 11139245, 21594992, 12525539, 11524736, 23278365, 17189636, 12161601, 8880577, 8406497, 23103230, 11175294, 10766875, 16930007, 21594993, 11391655, 8136837, 23023332, 12915484, 7915876, 15241795, 7977366, 8428751, 7762551, 15054843, 1631074, 8863159, 8504310, 14695540, 10364683, 17663468, 28636274, 10425041, 8004112, 9241263, 12402346, 9452085, 1852208, 16333834, 9837823; Changed phenotypes to: Marfan Syndrome, biallelic, OMIM:154700, FBN1-related Marfan syndrome, OMIM:154700, MARFAN SYNDROME, OMIM:154700, WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328, FBN1-related Weill-Marchesani syndrome, OMIM:608328, SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212
DDG2P v4.10 EZH1 Achchuthan Shanmugasundram reviewed gene: EZH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 37433783, 38814056; Phenotypes: EZH1-related neurodevelopmental disorder; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v4.10 ESAM Achchuthan Shanmugasundram reviewed gene: ESAM: Rating: GREEN; Mode of pathogenicity: ; Publications: 36996813; Phenotypes: ESAM-related neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 ERI1 Achchuthan Shanmugasundram reviewed gene: ERI1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36208065, 37352860, 28488351; Phenotypes: ERI1-related brachydactyly and mild neurodevelopmental delay, ERI1-related severe growth restriction and skeletal dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 EIF4A2 Achchuthan Shanmugasundram reviewed gene: EIF4A2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36528028; Phenotypes: Autosomal recessive EIF4A2-related neurodevelopmental disorder, Autosomal dominant EIF4A2-related neurodevelopmental disorder with hypotonia and epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 DOT1L Achchuthan Shanmugasundram reviewed gene: DOT1L: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37827158; Phenotypes: DOT1L-related neurodevelopmental disorder with intracranial anomalies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 DNA2 Achchuthan Shanmugasundram edited their review of gene: DNA2: Added comment: The DDG2P confidence category for the disease DNA2-related microcephalic primordial dwarfism with or without poikiloderma and cataracts, OMIM:615807 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 24389050;37055165;31045292).; Changed rating: GREEN; Changed publications to: 31045292, 24389050, 37055165; Changed phenotypes to: PRIMORDIAL DWARFISM SECKEL SYNDROME 8, OMIM:615807, DNA2-related microcephalic primordial dwarfism with or without poikiloderma and cataracts, OMIM:615807
DDG2P v4.10 DHX9 Achchuthan Shanmugasundram reviewed gene: DHX9: Rating: GREEN; Mode of pathogenicity: ; Publications: 37467750; Phenotypes: DHX9-related neurodevelopmental disorder and Charcot-Marie-Tooth disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 CWF19L1 Achchuthan Shanmugasundram reviewed gene: CWF19L1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25361784, 33012273, 27016154, 26197978, 36453471; Phenotypes: CWF19L1-related developmental delay with epilepsy, progressive ataxia and cerebellar atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 CTR9 Achchuthan Shanmugasundram reviewed gene: CTR9: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35468861, 35717577, 35499524; Phenotypes: CTR9-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 CRIPT Achchuthan Shanmugasundram edited their review of gene: CRIPT: Added comment: The DDG2P confidence category for the disease CRIPT-related short stature, microcephaly, poikiloderma and skeletal abnormalities (Rothmund Thomson like), OMIM:615789 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 24389050;27250922;36630262;37013901).; Changed rating: GREEN; Changed publications to: 36630262, 24389050, 37013901, 27250922; Changed phenotypes to: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES, OMIM:615789, CRIPT-related short stature, microcephaly, poikiloderma and skeletal abnormalities (Rothmund Thomson like), OMIM:615789
DDG2P v4.10 CRELD1 Achchuthan Shanmugasundram edited their review of gene: CRELD1: Added comment: The DDG2P confidence category for the disease CRELD1-related neurodevelopmental disorder with hypotonia and seizures is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure;decreased gene product level (PMID: 37947183). The DDG2P confidence category for the disease HETEROTAXY SYNDROME, OMIM:207574 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure.; Changed publications to: 37947183; Changed phenotypes to: CRELD1-related neurodevelopmental disorder with hypotonia and seizures, HETEROTAXY SYNDROME, OMIM:207574; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v4.10 CNOT9 Achchuthan Shanmugasundram reviewed gene: CNOT9: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37092538; Phenotypes: CNOT9-related developmental disorder with seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 CNOT2 Achchuthan Shanmugasundram reviewed gene: CNOT2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36224108, 31512373, 21299754, 31145527; Phenotypes: CNOT2-related neurodevelopmental disorder with hypotonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 CCDC88A Achchuthan Shanmugasundram edited their review of gene: CCDC88A: Added comment: The DDG2P confidence category for the disease CCDC88A-related PEHO-like syndrome with neuronal migration disorder, seizures and microcephaly, OMIM:617507 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;decreased gene product level (PMID: 37798908;30392057;26917597).; Changed rating: GREEN; Changed publications to: 37798908, 30392057, 26917597; Changed phenotypes to: PEHO-like syndrome, OMIM:617507, CCDC88A-related PEHO-like syndrome with neuronal migration disorder, seizures and microcephaly, OMIM:617507
DDG2P v4.10 CBX1 Achchuthan Shanmugasundram reviewed gene: CBX1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37087635; Phenotypes: CBX1-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 CBFB Achchuthan Shanmugasundram reviewed gene: CBFB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36241386; Phenotypes: CBFB-related cleidocranial dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 CASP2 Achchuthan Shanmugasundram edited their review of gene: CASP2: Added comment: The DDG2P confidence category for the disease CASP2-related developmental disorder with lissencephaly is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 37880421;21937992).; Changed rating: GREEN; Changed publications to: 21937992, 37880421; Changed phenotypes to: CASP2-related developmental disorder with lissencephaly, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER
DDG2P v4.10 CAMTA1 Achchuthan Shanmugasundram edited their review of gene: CAMTA1: Added comment: The DDG2P confidence category for the disease CAMTA1-related cerebellar dysfunction with variable cognitive and behavioral abnormalities, OMIM:614756 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID: 22693284;38044714).; Changed publications to: 22693284, 38044714; Changed phenotypes to: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:614756, CAMTA1-related cerebellar dysfunction with variable cognitive and behavioral abnormalities, OMIM:614756
DDG2P v4.10 CAMK2D Achchuthan Shanmugasundram reviewed gene: CAMK2D: Rating: GREEN; Mode of pathogenicity: Other; Publications: 38272033; Phenotypes: CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 C4orf26 Achchuthan Shanmugasundram edited their review of gene: C4orf26: Added comment: The DDG2P confidence category for the disease ODAPH-related Amyelogenesis Imperfecta, OMIM:614832 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 22901946).; Changed phenotypes to: ODAPH-related Amyelogenesis Imperfecta, OMIM:614832, AMYELOGENESIS, OMIM:614832
DDG2P v4.10 BORCS8 Achchuthan Shanmugasundram reviewed gene: BORCS8: Rating: GREEN; Mode of pathogenicity: Other; Publications: 38128568; Phenotypes: BORCS8-related early-infantile neurological disorder with severe intellectual disability, hypotonia and congenital heart disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 ARL6 Achchuthan Shanmugasundram edited their review of gene: ARL6: Added comment: The DDG2P confidence category for the disease BARDET-BIEDL SYNDROME TYPE 3, OMIM:600151 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 15258860;16606853;10973238;15314642;9714014;11567139;8298649;12118255;20618352; 18203199;18327255;15137946;20805367;17160889;12524598;16582908;11381270;20671153;12016587; 14520415;7987310;7711739;12567324;21937992;16308660;12837689;10973251;22353939;16380913). The DDG2P confidence category for the disease ARL6-related retinal dystrophy, OMIM:613575 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 31736247;28130426;19956407).; Changed publications to: 17160889, 14520415, 16380913, 20805367, 15258860, 12118255, 18327255, 22353939, 21937992, 8298649, 11381270, 15137946, 16606853, 20671153, 16582908, 15314642, 7987310, 10973238, 12567324, 10973251, 16308660, 12837689, 20618352, 9714014, 12524598, 7711739, 19956407, 31736247, 12016587, 28130426, 18203199, 11567139; Changed phenotypes to: RETINITIS PIGMENTOSA TYPE 55, OMIM:613575, BARDET-BIEDL SYNDROME TYPE 3, OMIM:600151, ARL6-related retinal dystrophy, OMIM:613575
DDG2P v4.10 AMFR Achchuthan Shanmugasundram reviewed gene: AMFR: Rating: GREEN; Mode of pathogenicity: ; Publications: 37119330; Phenotypes: AMFR-related spastic paraplegia with/without neurodevelopmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 ACTC1 Achchuthan Shanmugasundram reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 38278647, 37457373; Phenotypes: ACTC1-related distal arthrogryposis with congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.9 ZNF808 Achchuthan Shanmugasundram gene: ZNF808 was added
gene: ZNF808 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ZNF808 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF808 were set to 37308312; 37973953
Phenotypes for gene: ZNF808 were set to ZNF808-related pancreatic agenesis
DDG2P v4.9 ZFHX3 Achchuthan Shanmugasundram Source Expert Review Green was added to ZFHX3.
Mode of pathogenicity for gene ZFHX3 was changed from to Other
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v4.9 ZBTB47 Achchuthan Shanmugasundram gene: ZBTB47 was added
gene: ZBTB47 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ZBTB47 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZBTB47 were set to 38327012
Phenotypes for gene: ZBTB47 were set to ZBTB47-related developmental delay, intellectual disability, hypotonia and seizures
Mode of pathogenicity for gene: ZBTB47 was set to Other
DDG2P v4.9 ZBTB11 Achchuthan Shanmugasundram gene: ZBTB11 was added
gene: ZBTB11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ZBTB11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZBTB11 were set to 31130284; 35104841; 36068688; 29893856; 38899514
Phenotypes for gene: ZBTB11 were set to ZBTB11-related neurodevelopmental disorder with or without cataracts and movement disorder
Mode of pathogenicity for gene: ZBTB11 was set to Other
DDG2P v4.9 YWHAZ Achchuthan Shanmugasundram gene: YWHAZ was added
gene: YWHAZ was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: YWHAZ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: YWHAZ were set to 36001342
Phenotypes for gene: YWHAZ were set to YWHAZ-related developmental delay with simplified gyral pattern
Mode of pathogenicity for gene: YWHAZ was set to Other
DDG2P v4.9 YWHAE Achchuthan Shanmugasundram gene: YWHAE was added
gene: YWHAE was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: YWHAE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: YWHAE were set to 36999555
Phenotypes for gene: YWHAE were set to YWHAE-related developmental delay, seizures, hypotonia and brain abnormalities
DDG2P v4.9 WNT7B Achchuthan Shanmugasundram gene: WNT7B was added
gene: WNT7B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: WNT7B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNT7B were set to 35790350
Phenotypes for gene: WNT7B were set to WNT7B-related PDAC syndrome
DDG2P v4.9 UBE3C Achchuthan Shanmugasundram gene: UBE3C was added
gene: UBE3C was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: UBE3C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBE3C were set to 36401616
Phenotypes for gene: UBE3C were set to UBE3C-related neurodevelopmental disorder with absent speech and movement and behavioural abnormalities
DDG2P v4.9 TTI1 Achchuthan Shanmugasundram gene: TTI1 was added
gene: TTI1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TTI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTI1 were set to 36724785
Phenotypes for gene: TTI1 were set to TTI1-related microcephaly, intellectual disability and ataxia
DDG2P v4.9 TSPEAR Achchuthan Shanmugasundram gene: TSPEAR was added
gene: TSPEAR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TSPEAR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSPEAR were set to 34042254; 27736875; 37009414
Phenotypes for gene: TSPEAR were set to TSPEAR-related ectodermal dysplasia and tooth agenesis
DDG2P v4.9 TOR1A Achchuthan Shanmugasundram gene: TOR1A was added
gene: TOR1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TOR1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOR1A were set to 30244176; 33175450; 33832800; 28516161; 36757831
Phenotypes for gene: TOR1A were set to TOR1A-associated arthrogryposis multiplex congenita (AR)
DDG2P v4.9 TMEM63B Achchuthan Shanmugasundram gene: TMEM63B was added
gene: TMEM63B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TMEM63B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TMEM63B were set to 37421948
Phenotypes for gene: TMEM63B were set to TMEM63B-related developmental and epileptic encephalopathy with anaemia
Mode of pathogenicity for gene: TMEM63B was set to Other
DDG2P v4.9 TDRD7 Achchuthan Shanmugasundram Source Expert Review Green was added to TDRD7.
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v4.9 TDP2 Achchuthan Shanmugasundram gene: TDP2 was added
gene: TDP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TDP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TDP2 were set to 34606976; 31410782; 32651480; 30109272; 24658003
Phenotypes for gene: TDP2 were set to TDP2-related spinocerebellar ataxia with seizures and developmental delay
DDG2P v4.9 TBC1D32 Achchuthan Shanmugasundram gene: TBC1D32 was added
gene: TBC1D32 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBC1D32 were set to 31585110; 32573025; 36826837; 32060556; 24285566
Phenotypes for gene: TBC1D32 were set to TBC1D32-related ciliopathy
DDG2P v4.9 STX1A Achchuthan Shanmugasundram gene: STX1A was added
gene: STX1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: STX1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: STX1A were set to 36564538
Phenotypes for gene: STX1A were set to STX1A-associated neurodevelopmental disorder with epilepsy; STX1A-associated neurodevelopmental disorder without epilepsy
DDG2P v4.9 SNAPC4 Achchuthan Shanmugasundram gene: SNAPC4 was added
gene: SNAPC4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SNAPC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNAPC4 were set to 22222761; 36965478
Phenotypes for gene: SNAPC4 were set to SNAPC4-related neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction, OMIM:620515
DDG2P v4.9 SLC18A2 Achchuthan Shanmugasundram gene: SLC18A2 was added
gene: SLC18A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC18A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC18A2 were set to 23363473; 36318270
Phenotypes for gene: SLC18A2 were set to SLC18A2-related neurotransmitter disorder with dystonia and oculogyric crisis
DDG2P v4.9 SCAPER Achchuthan Shanmugasundram Source Expert Review Green was added to SCAPER.
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v4.9 SART3 Achchuthan Shanmugasundram gene: SART3 was added
gene: SART3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SART3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SART3 were set to 37296101
Phenotypes for gene: SART3 were set to SART3-related neurodevelopmental disorder with 46,XY gonadal dysgenesis (INDYGON)
Mode of pathogenicity for gene: SART3 was set to Other
DDG2P v4.9 RRAGC Achchuthan Shanmugasundram gene: RRAGC was added
gene: RRAGC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RRAGC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RRAGC were set to 37057673; 27234373
Phenotypes for gene: RRAGC were set to RRAGC-related congenital dilated cardiomyopathy with hyperlactatemia, deranged liver function and cataracts
Mode of pathogenicity for gene: RRAGC was set to Other
DDG2P v4.9 RPH3A Achchuthan Shanmugasundram gene: RPH3A was added
gene: RPH3A was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: RPH3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPH3A were set to 37403762
Phenotypes for gene: RPH3A were set to RPH3A-related neurodevelopmental disorder
Mode of pathogenicity for gene: RPH3A was set to Other
DDG2P v4.9 RNU4-2 Achchuthan Shanmugasundram gene: RNU4-2 was added
gene: RNU4-2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RNU4-2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RNU4-2 were set to 38821540; 38991538
Phenotypes for gene: RNU4-2 were set to RNU4-2 related neurodevelopmental disorder with microcephaly and seizures
Mode of pathogenicity for gene: RNU4-2 was set to Other
DDG2P v4.9 RNH1 Achchuthan Shanmugasundram gene: RNH1 was added
gene: RNH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RNH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNH1 were set to 36935417; 37191094
Phenotypes for gene: RNH1 were set to RNH1-related susceptibility to infection-related encephalopathy
DDG2P v4.9 RABGAP1 Achchuthan Shanmugasundram gene: RABGAP1 was added
gene: RABGAP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RABGAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RABGAP1 were set to 36083289
Phenotypes for gene: RABGAP1 were set to RABGAP1-related neurodevelopmental disorder with microcephaly and sensorineural hearing loss
DDG2P v4.9 RAB34 Achchuthan Shanmugasundram gene: RAB34 was added
gene: RAB34 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RAB34 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAB34 were set to 37619988; 37384395
Phenotypes for gene: RAB34 were set to RAB34-related orofaciodigital syndrome
Mode of pathogenicity for gene: RAB34 was set to Other
DDG2P v4.9 PSMC3 Achchuthan Shanmugasundram gene: PSMC3 was added
gene: PSMC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PSMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PSMC3 were set to 37256937
Phenotypes for gene: PSMC3 were set to PSMC3-related neurodevelopmental disorder
Mode of pathogenicity for gene: PSMC3 was set to Other
DDG2P v4.9 PRRX1 Achchuthan Shanmugasundram Source Expert Review Green was added to PRRX1.
Mode of inheritance for gene PRRX1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v4.9 PRPF19 Achchuthan Shanmugasundram gene: PRPF19 was added
gene: PRPF19 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PRPF19 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRPF19 were set to 37962958
Phenotypes for gene: PRPF19 were set to PRPF19-related neurodevelopmental disorder
DDG2P v4.9 PPM1K Achchuthan Shanmugasundram gene: PPM1K was added
gene: PPM1K was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: PPM1K was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPM1K were set to 23086801; 36706222
Phenotypes for gene: PPM1K were set to PPM1K-related maple syrup urine disease
DDG2P v4.9 PPFIA3 Achchuthan Shanmugasundram gene: PPFIA3 was added
gene: PPFIA3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PPFIA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PPFIA3 were set to 38181735
Phenotypes for gene: PPFIA3 were set to PPFIA3-related neurodevelopmental disorder
Mode of pathogenicity for gene: PPFIA3 was set to Other
DDG2P v4.9 PLAG1 Achchuthan Shanmugasundram gene: PLAG1 was added
gene: PLAG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PLAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PLAG1 were set to 33291420; 34480472
Phenotypes for gene: PLAG1 were set to PLAG1-associated Silver Russell Syndrome
DDG2P v4.9 PIP5K1C Achchuthan Shanmugasundram Source Expert Review Green was added to PIP5K1C.
Mode of inheritance for gene PIP5K1C was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v4.9 PIGP Achchuthan Shanmugasundram gene: PIGP was added
gene: PIGP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PIGP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGP were set to 28334793; 31139695; 32042915; 37125481
Phenotypes for gene: PIGP were set to PIGP-associated multiple congenital anomalies-hypotonia-seizures syndrome
DDG2P v4.9 PHF5A Achchuthan Shanmugasundram gene: PHF5A was added
gene: PHF5A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PHF5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PHF5A were set to 37422718; 33811463
Phenotypes for gene: PHF5A were set to PHF5A-related neurodevelopmental disorder with congenital malformations
Mode of pathogenicity for gene: PHF5A was set to Other
DDG2P v4.9 PABPC1 Achchuthan Shanmugasundram gene: PABPC1 was added
gene: PABPC1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: PABPC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PABPC1 were set to 35511136
Phenotypes for gene: PABPC1 were set to PABPC1-related developmental delay
Mode of pathogenicity for gene: PABPC1 was set to Other
DDG2P v4.9 ODC1 Achchuthan Shanmugasundram Mode of pathogenicity for gene ODC1 was changed from to Other
DDG2P v4.9 NOVA2 Achchuthan Shanmugasundram Mode of pathogenicity for gene NOVA2 was changed from to Other
DDG2P v4.9 NLGN4X Achchuthan Shanmugasundram Source Expert Review Green was added to NLGN4X.
Mode of inheritance for gene NLGN4X was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v4.9 NDST1 Achchuthan Shanmugasundram Source Expert Review Green was added to NDST1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v4.9 MYH8 Achchuthan Shanmugasundram Source Expert Review Green was added to MYH8.
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v4.9 MYH10 Achchuthan Shanmugasundram Source Expert Review Green was added to MYH10.
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v4.9 MTFMT Achchuthan Shanmugasundram gene: MTFMT was added
gene: MTFMT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MTFMT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTFMT were set to 30911575; 23499752; 21907147; 24461907; 32133637
Phenotypes for gene: MTFMT were set to MTFMT-related mitochondrial disease with regression and lactic acidosis
DDG2P v4.9 MKL2 Achchuthan Shanmugasundram gene: MKL2 was added
gene: MKL2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: MKL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MKL2 were set to 37013900
Phenotypes for gene: MKL2 were set to MRTFB-related neurodevelopmental disorder
Mode of pathogenicity for gene: MKL2 was set to Other
DDG2P v4.9 MAST3 Achchuthan Shanmugasundram gene: MAST3 was added
gene: MAST3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MAST3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAST3 were set to 34185323; 35095415
Phenotypes for gene: MAST3 were set to MAST3-related developmental and epileptic encephalopathy
Mode of pathogenicity for gene: MAST3 was set to Other
DDG2P v4.9 MAP4K4 Achchuthan Shanmugasundram Source Expert Review Green was added to MAP4K4.
Source DD-Gene2Phenotype was added to MAP4K4.
Mode of inheritance for gene MAP4K4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes MAP4K4-related neurodevelopmental disorder with/without congenital anomalies for gene: MAP4K4
Publications for gene: MAP4K4 were updated from PMID: 37126546 to 36469137; 28518170; PMID: 37126546; 37126546
Rating Changed from No List (delete) to Green List (high evidence)
DDG2P v4.9 LSM11 Achchuthan Shanmugasundram gene: LSM11 was added
gene: LSM11 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: LSM11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSM11 were set to 33230297
Phenotypes for gene: LSM11 were set to LSM11-related Aicardi-Goutieres syndrome
Mode of pathogenicity for gene: LSM11 was set to Other
DDG2P v4.9 LMOD2 Achchuthan Shanmugasundram gene: LMOD2 was added
gene: LMOD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LMOD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LMOD2 were set to 35188328; 34888509; 35082396; 31517052; 37296576
Phenotypes for gene: LMOD2 were set to LMOD2-related infantile dilated cardiomyopathy
DDG2P v4.9 LHX2 Achchuthan Shanmugasundram gene: LHX2 was added
gene: LHX2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LHX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LHX2 were set to 37057675
Phenotypes for gene: LHX2 were set to LHX2-related neurodevelopmental disorder with or without microcephaly
DDG2P v4.9 LEF1 Achchuthan Shanmugasundram gene: LEF1 was added
gene: LEF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LEF1 were set to 35583550
Phenotypes for gene: LEF1 were set to LEF1-related ectodermal dysplasia and limb malformation
DDG2P v4.9 KLHL20 Achchuthan Shanmugasundram gene: KLHL20 was added
gene: KLHL20 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KLHL20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KLHL20 were set to 36214804
Phenotypes for gene: KLHL20 were set to KLHL20-related developmental disorder with seizures
Mode of pathogenicity for gene: KLHL20 was set to Other
DDG2P v4.9 KCNN2 Achchuthan Shanmugasundram gene: KCNN2 was added
gene: KCNN2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KCNN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNN2 were set to 33242881
Phenotypes for gene: KCNN2 were set to KCNN2-related neurodevelopmental disorder with or without movement disorder
DDG2P v4.9 KCND2 Achchuthan Shanmugasundram gene: KCND2 was added
gene: KCND2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KCND2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCND2 were set to 34245260; 24501278
Phenotypes for gene: KCND2 were set to KCND2-related neurodevelopmental disorder with or without seizures
Mode of pathogenicity for gene: KCND2 was set to Other
DDG2P v4.9 INTS11 Achchuthan Shanmugasundram gene: INTS11 was added
gene: INTS11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: INTS11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INTS11 were set to 37054711; 37980560
Phenotypes for gene: INTS11 were set to INTS11-related neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428
Mode of pathogenicity for gene: INTS11 was set to Other
DDG2P v4.9 INTS1 Achchuthan Shanmugasundram gene: INTS1 was added
gene: INTS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: INTS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INTS1 were set to 28542170; 30622326; 31428919
Phenotypes for gene: INTS1 were set to INTS1-related neurodevelopmental disorder with cataracts, hypotonia and gait abnormality
DDG2P v4.9 IKZF2 Achchuthan Shanmugasundram gene: IKZF2 was added
gene: IKZF2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: IKZF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IKZF2 were set to 37316189
Phenotypes for gene: IKZF2 were set to IKZF2-related ICHAD syndrome
Mode of pathogenicity for gene: IKZF2 was set to Other
DDG2P v4.9 IER3IP1 Achchuthan Shanmugasundram gene: IER3IP1 was added
gene: IER3IP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: IER3IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IER3IP1 were set to 36416459; 22991235; 24138066; 21835305; 28711742
Phenotypes for gene: IER3IP1 were set to IER3IP1-related microcephaly with simplified gyral pattern, epilepsy, and neonatal diabetes
Mode of pathogenicity for gene: IER3IP1 was set to Other
DDG2P v4.9 HMGCR Achchuthan Shanmugasundram gene: HMGCR was added
gene: HMGCR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HMGCR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HMGCR were set to 37167966; 36745799
Phenotypes for gene: HMGCR were set to HMGCR-related limb-girdle muscular dystrophy
Mode of pathogenicity for gene: HMGCR was set to Other
DDG2P v4.9 HECTD4 Achchuthan Shanmugasundram gene: HECTD4 was added
gene: HECTD4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HECTD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HECTD4 were set to 36401616
Phenotypes for gene: HECTD4 were set to HECTD4-related neurodevelopmental disorder with seizures, hypotonia, spasticity, and agenesis of the corpus callosum
Mode of pathogenicity for gene: HECTD4 was set to Other
DDG2P v4.9 GTPBP1 Achchuthan Shanmugasundram gene: GTPBP1 was added
gene: GTPBP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTPBP1 were set to 38118446
Phenotypes for gene: GTPBP1 were set to GTPBP1-related neurodevelopmental disorder with severe-profound intellectual disability, spasticity and ectodermal features.
DDG2P v4.9 GABRA2 Achchuthan Shanmugasundram gene: GABRA2 was added
gene: GABRA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GABRA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GABRA2 were set to 29422393; 29961870; 31032849
Phenotypes for gene: GABRA2 were set to GABRA2-related epileptic encephalopathy
Mode of pathogenicity for gene: GABRA2 was set to Other
DDG2P v4.9 FOXP4 Achchuthan Shanmugasundram Source Expert Review Green was added to FOXP4.
Mode of pathogenicity for gene FOXP4 was changed from to Other
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v4.9 FOSL2 Achchuthan Shanmugasundram gene: FOSL2 was added
gene: FOSL2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOSL2 were set to 36197437
Phenotypes for gene: FOSL2 were set to FOSL2-related neurodevelopmental disorder with scalp and enamel defects
Mode of pathogenicity for gene: FOSL2 was set to Other
DDG2P v4.9 FILIP1 Achchuthan Shanmugasundram gene: FILIP1 was added
gene: FILIP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FILIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FILIP1 were set to 36943452
Phenotypes for gene: FILIP1 were set to FILIP1-related arthrogryposis multiplex congenita with microcephaly
DDG2P v4.9 FICD Achchuthan Shanmugasundram gene: FICD was added
gene: FICD was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: FICD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FICD were set to 36704923
Phenotypes for gene: FICD were set to FICD-related infancy-onset diabetes and neurodevelopmental disorder
Mode of pathogenicity for gene: FICD was set to Other
DDG2P v4.9 FIBP Achchuthan Shanmugasundram gene: FIBP was added
gene: FIBP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FIBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FIBP were set to 26660953; 38102793; 36919607; 27183861; 37218527; 37876348
Phenotypes for gene: FIBP were set to FIBP-related overgrowth syndrome with developmental delay (Thauvin-Robinet-Faivre syndrome)
DDG2P v4.9 FDXR Achchuthan Shanmugasundram gene: FDXR was added
gene: FDXR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FDXR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FDXR were set to 30250212; 28965846; 33938912; 32499495
Phenotypes for gene: FDXR were set to FDXR-related optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
Mode of pathogenicity for gene: FDXR was set to Other
DDG2P v4.9 EZH1 Achchuthan Shanmugasundram gene: EZH1 was added
gene: EZH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EZH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: EZH1 were set to 37433783; 38814056
Phenotypes for gene: EZH1 were set to EZH1-related neurodevelopmental disorder
DDG2P v4.9 ESAM Achchuthan Shanmugasundram gene: ESAM was added
gene: ESAM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ESAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ESAM were set to 36996813
Phenotypes for gene: ESAM were set to ESAM-related neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity
DDG2P v4.9 ERI1 Achchuthan Shanmugasundram gene: ERI1 was added
gene: ERI1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ERI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERI1 were set to 36208065; 37352860; 28488351
Phenotypes for gene: ERI1 were set to ERI1-related brachydactyly and mild neurodevelopmental delay; ERI1-related severe growth restriction and skeletal dysplasia
Mode of pathogenicity for gene: ERI1 was set to Other
DDG2P v4.9 EIF4A2 Achchuthan Shanmugasundram gene: EIF4A2 was added
gene: EIF4A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EIF4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EIF4A2 were set to 36528028
Phenotypes for gene: EIF4A2 were set to Autosomal recessive EIF4A2-related neurodevelopmental disorder; Autosomal dominant EIF4A2-related neurodevelopmental disorder with hypotonia and epilepsy
Mode of pathogenicity for gene: EIF4A2 was set to Other
DDG2P v4.9 DOT1L Achchuthan Shanmugasundram gene: DOT1L was added
gene: DOT1L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DOT1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DOT1L were set to 37827158
Phenotypes for gene: DOT1L were set to DOT1L-related neurodevelopmental disorder with intracranial anomalies
Mode of pathogenicity for gene: DOT1L was set to Other
DDG2P v4.9 DNA2 Achchuthan Shanmugasundram Source Expert Review Green was added to DNA2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v4.9 DHX9 Achchuthan Shanmugasundram gene: DHX9 was added
gene: DHX9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DHX9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DHX9 were set to 37467750
Phenotypes for gene: DHX9 were set to DHX9-related neurodevelopmental disorder and Charcot-Marie-Tooth disease
DDG2P v4.9 DENND5B Achchuthan Shanmugasundram gene: DENND5B was added
gene: DENND5B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: DENND5B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DENND5B were set to 38387458
Phenotypes for gene: DENND5B were set to DENND5B-related neurodevelopmental disorder with cortical migration and white matter abnormalities
Mode of pathogenicity for gene: DENND5B was set to Other
DDG2P v4.9 CWF19L1 Achchuthan Shanmugasundram gene: CWF19L1 was added
gene: CWF19L1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CWF19L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CWF19L1 were set to 25361784; 33012273; 27016154; 26197978; 36453471
Phenotypes for gene: CWF19L1 were set to CWF19L1-related developmental delay with epilepsy, progressive ataxia and cerebellar atrophy
DDG2P v4.9 CTR9 Achchuthan Shanmugasundram gene: CTR9 was added
gene: CTR9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CTR9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CTR9 were set to 35468861; 35717577; 35499524
Phenotypes for gene: CTR9 were set to CTR9-related neurodevelopmental disorder
Mode of pathogenicity for gene: CTR9 was set to Other
DDG2P v4.9 CRIPT Achchuthan Shanmugasundram Source Expert Review Green was added to CRIPT.
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v4.9 CNOT9 Achchuthan Shanmugasundram gene: CNOT9 was added
gene: CNOT9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CNOT9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CNOT9 were set to 37092538
Phenotypes for gene: CNOT9 were set to CNOT9-related developmental disorder with seizures
Mode of pathogenicity for gene: CNOT9 was set to Other
DDG2P v4.9 CNOT2 Achchuthan Shanmugasundram gene: CNOT2 was added
gene: CNOT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CNOT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CNOT2 were set to 36224108; 31512373; 21299754; 31145527
Phenotypes for gene: CNOT2 were set to CNOT2-related neurodevelopmental disorder with hypotonia
Mode of pathogenicity for gene: CNOT2 was set to Other
DDG2P v4.9 CCDC88A Achchuthan Shanmugasundram Source Expert Review Green was added to CCDC88A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v4.9 CCDC78 Achchuthan Shanmugasundram Source Expert Review Red was added to CCDC78.
Rating Changed from Green List (high evidence) to Red List (low evidence)
DDG2P v4.9 CBX1 Achchuthan Shanmugasundram gene: CBX1 was added
gene: CBX1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CBX1 were set to 37087635
Phenotypes for gene: CBX1 were set to CBX1-related neurodevelopmental disorder
Mode of pathogenicity for gene: CBX1 was set to Other
DDG2P v4.9 CBFB Achchuthan Shanmugasundram gene: CBFB was added
gene: CBFB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CBFB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CBFB were set to 36241386
Phenotypes for gene: CBFB were set to CBFB-related cleidocranial dysplasia
Mode of pathogenicity for gene: CBFB was set to Other
DDG2P v4.9 CASP2 Achchuthan Shanmugasundram Source Expert Review Green was added to CASP2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v4.9 CAMK2D Achchuthan Shanmugasundram gene: CAMK2D was added
gene: CAMK2D was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CAMK2D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CAMK2D were set to 38272033
Phenotypes for gene: CAMK2D were set to CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy
Mode of pathogenicity for gene: CAMK2D was set to Other
DDG2P v4.9 BORCS8 Achchuthan Shanmugasundram gene: BORCS8 was added
gene: BORCS8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BORCS8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BORCS8 were set to 38128568
Phenotypes for gene: BORCS8 were set to BORCS8-related early-infantile neurological disorder with severe intellectual disability, hypotonia and congenital heart disease
Mode of pathogenicity for gene: BORCS8 was set to Other
DDG2P v4.9 ANKRD11 Achchuthan Shanmugasundram Mode of pathogenicity for gene ANKRD11 was changed from to Other
DDG2P v4.9 ANGPT2 Achchuthan Shanmugasundram gene: ANGPT2 was added
gene: ANGPT2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ANGPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANGPT2 were set to 34876502
Phenotypes for gene: ANGPT2 were set to ANGPT2-related non-immune hydrops fetalis
Mode of pathogenicity for gene: ANGPT2 was set to Other
DDG2P v4.9 AMFR Achchuthan Shanmugasundram gene: AMFR was added
gene: AMFR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AMFR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMFR were set to 37119330
Phenotypes for gene: AMFR were set to AMFR-related spastic paraplegia with/without neurodevelopmental delay
DDG2P v4.9 AGPAT3 Achchuthan Shanmugasundram gene: AGPAT3 was added
gene: AGPAT3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: AGPAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGPAT3 were set to 37821758
Phenotypes for gene: AGPAT3 were set to AGPAT3-related intellectual disability and retinitis pigmentosa
DDG2P v4.9 ACTC1 Achchuthan Shanmugasundram gene: ACTC1 was added
gene: ACTC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ACTC1 were set to 38278647; 37457373
Phenotypes for gene: ACTC1 were set to ACTC1-related distal arthrogryposis with congenital heart disease
Mode of pathogenicity for gene: ACTC1 was set to Other
Retinal disorders v6.8 ATXN7_CAG Sarah Leigh Classified STR: ATXN7_CAG as Green List (high evidence)
Retinal disorders v6.8 ATXN7_CAG Sarah Leigh Str: atxn7_cag has been classified as Green List (High Evidence).
Retinal disorders v6.7 ATXN7_CAG Sarah Leigh Tag Q2_24_promote_green was removed from STR: ATXN7_CAG.
Tag Q2_24_NHS_review was removed from STR: ATXN7_CAG.
Retinal disorders v6.7 ATXN7_CAG Sarah Leigh commented on STR: ATXN7_CAG: The rating of this STR has been updated to green following NHS Genomic Medicine Service approval.
Adult onset neurodegenerative disorder v6.6 ATXN2_CAG Sarah Leigh Classified STR: ATXN2_CAG as Green List (high evidence)
Adult onset neurodegenerative disorder v6.6 ATXN2_CAG Sarah Leigh Str: atxn2_cag has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v6.5 ATXN2_CAG Sarah Leigh commented on STR: ATXN2_CAG: The rating of this entity has been updated to green following NHS Genomic Medicine Service approval.
Adult onset neurodegenerative disorder v6.5 ATXN7_CAG Sarah Leigh Tag Q2_24_promote_green was removed from STR: ATXN7_CAG.
Tag Q2_24_expert_review was removed from STR: ATXN7_CAG.
Adult onset neurodegenerative disorder v6.5 ATXN7_CAG Sarah Leigh commented on STR: ATXN7_CAG: The rating of this entity has been updated to green following NHS Genomic Medicine Service approval.
Adult onset neurodegenerative disorder v6.5 ATXN7_CAG Sarah Leigh Classified STR: ATXN7_CAG as Green List (high evidence)
Adult onset neurodegenerative disorder v6.5 ATXN7_CAG Sarah Leigh Str: atxn7_cag has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v6.4 NAA60 Sarah Leigh Tag Q2_24_promote_green was removed from gene: NAA60.
Tag Q2_24_NHS_review was removed from gene: NAA60.
Adult onset neurodegenerative disorder v6.4 NAA60 Sarah Leigh commented on gene: NAA60: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Adult onset neurodegenerative disorder v6.3 NAA60 Sarah Leigh Source NHS GMS was added to NAA60.
Source Expert Review Green was added to NAA60.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v5.9 PLD1 Achchuthan Shanmugasundram Tag Q2_24_demote_red was removed from gene: PLD1.
Tag Q2_24_expert_review was removed from gene: PLD1.
Paediatric disorders - additional genes v5.9 PLD1 Achchuthan Shanmugasundram commented on gene: PLD1
Retinal disorders v6.7 UBAP1L Sarah Leigh Tag Q1_24_promote_green was removed from gene: UBAP1L.
Tag Q1_24_NHS_review was removed from gene: UBAP1L.
Retinal disorders v6.7 TTC21B Sarah Leigh Tag Q1_24_promote_green was removed from gene: TTC21B.
Tag Q1_24_NHS_review was removed from gene: TTC21B.
Retinal disorders v6.7 SUMF1 Sarah Leigh Tag Q2_24_promote_green was removed from gene: SUMF1.
Tag Q2_24_NHS_review was removed from gene: SUMF1.
Retinal disorders v6.7 SLC37A3 Sarah Leigh Tag Q2_24_promote_green was removed from gene: SLC37A3.
Tag Q2_24_NHS_review was removed from gene: SLC37A3.
Retinal disorders v6.7 SAMD7 Sarah Leigh Tag Q1_24_promote_green was removed from gene: SAMD7.
Tag Q1_24_NHS_review was removed from gene: SAMD7.
Retinal disorders v6.7 RAX2 Sarah Leigh Tag Q1_24_MOI was removed from gene: RAX2.
Retinal disorders v6.7 PQLC2 Sarah Leigh Tag Q2_24_promote_green was removed from gene: PQLC2.
Retinal disorders v6.7 MT-TL1 Sarah Leigh Tag Q1_24_promote_green was removed from gene: MT-TL1.
Tag Q1_24_NHS_review was removed from gene: MT-TL1.
Retinal disorders v6.7 MT-ATP6 Sarah Leigh Tag Q2_24_promote_green was removed from gene: MT-ATP6.
Tag Q2_24_NHS_review was removed from gene: MT-ATP6.
Retinal disorders v6.7 JAG1 Sarah Leigh Tag Q1_24_promote_green was removed from gene: JAG1.
Tag Q1_24_NHS_review was removed from gene: JAG1.
Retinal disorders v6.7 CNGA1 Sarah Leigh Tag Q1_24_MOI was removed from gene: CNGA1.
Mitochondrial disorders v7.3 BTD Achchuthan Shanmugasundram Tag Q2_24_demote_amber was removed from gene: BTD.
Tag Q2_24_expert_review was removed from gene: BTD.
Mitochondrial disorders v7.3 ANO10 Achchuthan Shanmugasundram Tag Q2_24_demote_amber was removed from gene: ANO10.
Tag Q2_24_expert_review was removed from gene: ANO10.
Mitochondrial disorders v7.3 MT-TT Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: MT-TT.
Mitochondrial disorders v7.3 SPATA5 Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: SPATA5.
Mitochondrial disorders v7.3 MSTO1 Achchuthan Shanmugasundram Tag Q1_24_MOI was removed from gene: MSTO1.
Mitochondrial disorders v7.3 CYCS Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: CYCS.
Mitochondrial disorders v7.3 SPATA5 Achchuthan Shanmugasundram edited their review of gene: SPATA5: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v7.3 MT-TT Achchuthan Shanmugasundram reviewed gene: MT-TT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL
Mitochondrial disorders v7.3 MSTO1 Achchuthan Shanmugasundram reviewed gene: MSTO1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v7.3 CYCS Achchuthan Shanmugasundram reviewed gene: CYCS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disorders v7.3 BTD Achchuthan Shanmugasundram reviewed gene: BTD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v7.3 ANO10 Achchuthan Shanmugasundram reviewed gene: ANO10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v6.7 UBAP1L Eleanor Williams reviewed gene: UBAP1L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v6.7 TTC21B Eleanor Williams reviewed gene: TTC21B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v6.7 SUMF1 Eleanor Williams reviewed gene: SUMF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v6.7 SLC37A3 Eleanor Williams reviewed gene: SLC37A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v6.7 SAMD7 Eleanor Williams reviewed gene: SAMD7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v6.7 RP1L1 Eleanor Williams reviewed gene: RP1L1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v6.7 RAX2 Eleanor Williams reviewed gene: RAX2: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v6.7 PQLC2 Eleanor Williams reviewed gene: PQLC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v6.7 MT-TL1 Eleanor Williams reviewed gene: MT-TL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL
Retinal disorders v6.7 MT-ATP6 Eleanor Williams reviewed gene: MT-ATP6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL
Retinal disorders v6.7 JAG1 Eleanor Williams reviewed gene: JAG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinal disorders v6.7 CNGA1 Eleanor Williams reviewed gene: CNGA1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v6.6 UBAP1L Sarah Leigh Source Expert Review Green was added to UBAP1L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v6.6 TTC21B Sarah Leigh Source Expert Review Green was added to TTC21B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v6.6 SUMF1 Sarah Leigh Source NHS GMS was added to SUMF1.
Source Expert Review Green was added to SUMF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v6.6 SLC37A3 Sarah Leigh Source Expert Review Green was added to SLC37A3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v6.6 SAMD7 Sarah Leigh Source NHS GMS was added to SAMD7.
Source Expert Review Green was added to SAMD7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v6.6 RP1L1 Sarah Leigh Mode of inheritance for gene RP1L1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v6.6 RAX2 Sarah Leigh Mode of inheritance for gene RAX2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v6.6 PQLC2 Sarah Leigh Source NHS GMS was added to PQLC2.
Source Expert Review Green was added to PQLC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v6.6 MT-TL1 Sarah Leigh Source Expert Review Green was added to MT-TL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v6.6 MT-ATP6 Sarah Leigh Source Expert Review Green was added to MT-ATP6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v6.6 JAG1 Sarah Leigh Source Expert Review Green was added to JAG1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v6.6 CNGA1 Sarah Leigh Mode of inheritance for gene CNGA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v7.2 SPATA5 Achchuthan Shanmugasundram Source NHS GMS was added to SPATA5.
Source Expert Review Green was added to SPATA5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v7.2 MT-TT Achchuthan Shanmugasundram Source NHS GMS was added to MT-TT.
Source Expert Review Green was added to MT-TT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v7.2 MSTO1 Achchuthan Shanmugasundram Mode of inheritance for gene MSTO1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v7.2 CYCS Achchuthan Shanmugasundram Source NHS GMS was added to CYCS.
Source Expert Review Green was added to CYCS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v7.2 BTD Achchuthan Shanmugasundram Source NHS GMS was added to BTD.
Source Expert Review Amber was added to BTD.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Mitochondrial disorders v7.2 ANO10 Achchuthan Shanmugasundram Source NHS GMS was added to ANO10.
Source Expert Review Amber was added to ANO10.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Malformations of cortical development v6.3 COL3A1 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: COL3A1.
Malformations of cortical development v6.3 COL3A1 Achchuthan Shanmugasundram reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Malformations of cortical development v6.2 COL3A1 Achchuthan Shanmugasundram Source NHS GMS was added to COL3A1.
Source Expert Review Green was added to COL3A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v6.10 SLC6A19 Achchuthan Shanmugasundram Tag Q2_24_MOI was removed from gene: SLC6A19.
Tag Q2_24_expert_review was removed from gene: SLC6A19.
Tag Q2_24_NHS_review was removed from gene: SLC6A19.
Likely inborn error of metabolism v6.10 PIGW Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: PIGW.
Likely inborn error of metabolism v6.10 MT-TT Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: MT-TT.
Likely inborn error of metabolism v6.10 CREB3L3 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: CREB3L3.
Likely inborn error of metabolism v6.10 ARSG Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: ARSG.
Likely inborn error of metabolism v6.10 RNASEH2C Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: RNASEH2C.
Tag Q1_24_NHS_review was removed from gene: RNASEH2C.
Likely inborn error of metabolism v6.10 RNASEH2B Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: RNASEH2B.
Tag Q1_24_NHS_review was removed from gene: RNASEH2B.
Likely inborn error of metabolism v6.10 RNASEH2A Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: RNASEH2A.
Tag Q1_24_NHS_review was removed from gene: RNASEH2A.
Likely inborn error of metabolism v6.10 MSTO1 Achchuthan Shanmugasundram Tag Q1_24_MOI was removed from gene: MSTO1.
Likely inborn error of metabolism v6.10 GSTZ1 Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: GSTZ1.
Tag Q1_24_NHS_review was removed from gene: GSTZ1.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 STAT4 Eleanor Williams Tag Q1_24_promote_green was removed from gene: STAT4.
Tag Q1_24_NHS_review was removed from gene: STAT4.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 PTCRA Eleanor Williams Tag Q2_24_promote_green was removed from gene: PTCRA.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 NUDCD3 Eleanor Williams Tag Q2_24_promote_green was removed from gene: NUDCD3.
Likely inborn error of metabolism v6.10 SLC6A19 Achchuthan Shanmugasundram commented on gene: SLC6A19: The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Likely inborn error of metabolism v6.10 RNASEH2C Achchuthan Shanmugasundram reviewed gene: RNASEH2C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v6.10 RNASEH2B Achchuthan Shanmugasundram reviewed gene: RNASEH2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v6.10 RNASEH2A Achchuthan Shanmugasundram reviewed gene: RNASEH2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v6.10 PIGW Achchuthan Shanmugasundram commented on gene: PIGW: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Likely inborn error of metabolism v6.10 MT-TT Achchuthan Shanmugasundram reviewed gene: MT-TT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL
Likely inborn error of metabolism v6.10 MSTO1 Achchuthan Shanmugasundram reviewed gene: MSTO1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v6.10 GSTZ1 Achchuthan Shanmugasundram commented on gene: GSTZ1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Likely inborn error of metabolism v6.10 CREB3L3 Achchuthan Shanmugasundram edited their review of gene: CREB3L3: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Likely inborn error of metabolism v6.10 ARSG Achchuthan Shanmugasundram commented on gene: ARSG: The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 LCP2 Eleanor Williams Tag watchlist was removed from gene: LCP2.
Tag Q1_24_promote_green was removed from gene: LCP2.
Tag Q1_24_NHS_review was removed from gene: LCP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 LACC1 Eleanor Williams Tag Q1_24_promote_green was removed from gene: LACC1.
Tag Q1_24_NHS_review was removed from gene: LACC1.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 HSPA1L Eleanor Williams Tag Q1_24_promote_green was removed from gene: HSPA1L.
Tag Q1_24_NHS_review was removed from gene: HSPA1L.
Likely inborn error of metabolism v6.9 SLC6A19 Achchuthan Shanmugasundram Mode of inheritance for gene SLC6A19 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v6.9 RNASEH2C Achchuthan Shanmugasundram Source Expert Review Green was added to RNASEH2C.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism v6.9 RNASEH2B Achchuthan Shanmugasundram Source Expert Review Green was added to RNASEH2B.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism v6.9 RNASEH2A Achchuthan Shanmugasundram Source Expert Review Green was added to RNASEH2A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism v6.9 PIGW Achchuthan Shanmugasundram Source NHS GMS was added to PIGW.
Source Expert Review Green was added to PIGW.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v6.9 MT-TT Achchuthan Shanmugasundram Source NHS GMS was added to MT-TT.
Source Expert Review Green was added to MT-TT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v6.9 MSTO1 Achchuthan Shanmugasundram Source NHS GMS was added to MSTO1.
Mode of inheritance for gene MSTO1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v6.9 GSTZ1 Achchuthan Shanmugasundram Source NHS GMS was added to GSTZ1.
Source Expert Review Green was added to GSTZ1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v6.9 CREB3L3 Achchuthan Shanmugasundram Source Expert Review Green was added to CREB3L3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v6.9 ARSG Achchuthan Shanmugasundram Source NHS GMS was added to ARSG.
Source Expert Review Green was added to ARSG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 ANKZF1 Eleanor Williams Tag Q1_24_promote_green was removed from gene: ANKZF1.
Tag Q1_24_NHS_review was removed from gene: ANKZF1.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 STAT4 Eleanor Williams reviewed gene: STAT4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 PTCRA Eleanor Williams reviewed gene: PTCRA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 NUDCD3 Eleanor Williams reviewed gene: NUDCD3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 LCP2 Eleanor Williams reviewed gene: LCP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 LACC1 Eleanor Williams reviewed gene: LACC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 HSPA1L Eleanor Williams reviewed gene: HSPA1L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 ANKZF1 Eleanor Williams reviewed gene: ANKZF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v6.9 STAT4 Eleanor Williams Source Expert Review Green was added to STAT4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v6.9 PTCRA Eleanor Williams Source NHS GMS was added to PTCRA.
Source Expert Review Green was added to PTCRA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v6.9 NUDCD3 Eleanor Williams Source NHS GMS was added to NUDCD3.
Source Expert Review Green was added to NUDCD3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v6.9 LCP2 Eleanor Williams Source NHS GMS was added to LCP2.
Source Expert Review Green was added to LCP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v6.9 LACC1 Eleanor Williams Source NHS GMS was added to LACC1.
Source Expert Review Green was added to LACC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v6.9 HSPA1L Eleanor Williams Source NHS GMS was added to HSPA1L.
Source Expert Review Green was added to HSPA1L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v6.9 ANKZF1 Eleanor Williams Source NHS GMS was added to ANKZF1.
Source Expert Review Green was added to ANKZF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.41 SOX9 Achchuthan Shanmugasundram Tag Q2_24_demote_amber was removed from gene: SOX9.
Tag Q2_24_NHS_review was removed from gene: SOX9.
Intellectual disability v7.41 GLI3 Achchuthan Shanmugasundram Tag Q2_24_demote_amber was removed from gene: GLI3.
Tag Q2_24_NHS_review was removed from gene: GLI3.
Intellectual disability v7.41 WDR5 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: WDR5.
Intellectual disability v7.41 TBC1D2B Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: TBC1D2B.
Tag Q2_24_NHS_review was removed from gene: TBC1D2B.
Intellectual disability v7.41 STX1A Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: STX1A.
Intellectual disability v7.41 SEPHS1 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: SEPHS1.
Intellectual disability v7.41 RNU4-2 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: RNU4-2.
Intellectual disability v7.41 PLXNB2 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: PLXNB2.
Intellectual disability v7.41 MAST3 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: MAST3.
Tag Q2_24_NHS_review was removed from gene: MAST3.
Intellectual disability v7.41 KCNB2 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: KCNB2.
Intellectual disability v7.41 ITSN1 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: ITSN1.
Tag Q2_24_NHS_review was removed from gene: ITSN1.
Intellectual disability v7.41 GTF3C5 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: GTF3C5.
Intellectual disability v7.41 GAN Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: GAN.
Tag Q2_24_NHS_review was removed from gene: GAN.
Intellectual disability v7.41 FEM1B Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: FEM1B.
Intellectual disability v7.41 FAM177A1 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: FAM177A1.
Intellectual disability v7.41 EZH1 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: EZH1.
Intellectual disability v7.41 DOCK4 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: DOCK4.
Intellectual disability v7.41 DENND5B Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: DENND5B.
Tag Q2_24_NHS_review was removed from gene: DENND5B.
Intellectual disability v7.41 CAMK2D Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: CAMK2D.
Intellectual disability v7.41 ANO4 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: ANO4.
Tag Q2_24_MOI was removed from gene: ANO4.
Intellectual disability v7.41 ADGRL1 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: ADGRL1.
Severe microcephaly v6.6 SMC5 Sarah Leigh Tag Q2_24_promote_green was removed from gene: SMC5.
Severe microcephaly v6.6 SLF2 Sarah Leigh Tag Q2_24_promote_green was removed from gene: SLF2.
Severe microcephaly v6.6 SASS6 Sarah Leigh Tag Q2_24_promote_green was removed from gene: SASS6.
Severe microcephaly v6.6 RNU4-2 Sarah Leigh Tag Q2_24_promote_green was removed from gene: RNU4-2.
Skeletal dysplasia v6.9 NEPRO Eleanor Williams Deleted their comment
Skeletal dysplasia v6.9 NEPRO Eleanor Williams Deleted their comment
Skeletal dysplasia v6.9 NEPRO Eleanor Williams Deleted their comment
Severe microcephaly v6.6 CAMSAP1 Sarah Leigh Tag Q1_24_promote_green was removed from gene: CAMSAP1.
Skeletal dysplasia v6.9 MGP Eleanor Williams Deleted their comment
Skeletal dysplasia v6.9 MGP Eleanor Williams Deleted their comment
Skeletal dysplasia v6.9 MGP Eleanor Williams Deleted their comment
Severe microcephaly v6.6 ACBD6 Sarah Leigh Tag Q1_24_promote_green was removed from gene: ACBD6.
Skeletal dysplasia v6.9 CBFB Eleanor Williams Deleted their comment
Skeletal dysplasia v6.9 CBFB Eleanor Williams Deleted their comment
Skeletal dysplasia v6.9 CBFB Eleanor Williams Deleted their comment
Severe microcephaly v6.6 ZNF335 Sarah Leigh Tag Q1_24_MOI was removed from gene: ZNF335.
Tag Q1_24_expert_review was removed from gene: ZNF335.
Severe microcephaly v6.6 ZNF335 Eleanor Williams reviewed gene: ZNF335: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly v6.6 SMC5 Eleanor Williams reviewed gene: SMC5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly v6.6 SLF2 Eleanor Williams reviewed gene: SLF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly v6.6 SASS6 Eleanor Williams edited their review of gene: SASS6: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Severe microcephaly v6.6 RNU4-2 Eleanor Williams edited their review of gene: RNU4-2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe microcephaly v6.6 CAMSAP1 Eleanor Williams reviewed gene: CAMSAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly v6.6 ACBD6 Eleanor Williams reviewed gene: ACBD6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly v6.5 ZNF335 Sarah Leigh Mode of inheritance for gene ZNF335 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly v6.5 SMC5 Sarah Leigh Source NHS GMS was added to SMC5.
Source Expert Review Green was added to SMC5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v6.5 SLF2 Sarah Leigh Source NHS GMS was added to SLF2.
Source Expert Review Green was added to SLF2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v6.5 SASS6 Sarah Leigh Source Expert Review Green was added to SASS6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v6.5 RNU4-2 Sarah Leigh Source NHS GMS was added to RNU4-2.
Source Expert Review Green was added to RNU4-2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v6.5 CAMSAP1 Sarah Leigh Source NHS GMS was added to CAMSAP1.
Source Expert Review Green was added to CAMSAP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v6.5 ACBD6 Sarah Leigh Source NHS GMS was added to ACBD6.
Source Expert Review Green was added to ACBD6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v6.9 CBFB Sarah Leigh Tag Q2_24_promote_green was removed from gene: CBFB.
Tag Q2_24_MOI was removed from gene: CBFB.
Tag Q2_24_NHS_review was removed from gene: CBFB.
Skeletal dysplasia v6.9 MGP Sarah Leigh Tag Q1_24_MOI was removed from gene: MGP.
Skeletal dysplasia v6.9 NEPRO Sarah Leigh Tag Q1_24_promote_green was removed from gene: NEPRO.
Intellectual disability v7.41 ZNFX1 Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: ZNFX1.
Tag Q1_24_NHS_review was removed from gene: ZNFX1.
Intellectual disability v7.41 ZFX Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: ZFX.
Tag Q1_24_NHS_review was removed from gene: ZFX.
Intellectual disability v7.41 ZFHX3 Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: ZFHX3.
Tag Q1_24_NHS_review was removed from gene: ZFHX3.
Intellectual disability v7.41 SNF8 Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: SNF8.
Intellectual disability v7.41 LGI3 Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: LGI3.
Intellectual disability v7.41 KIRREL3 Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: KIRREL3.
Intellectual disability v7.41 KCNA3 Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: KCNA3.
Tag Q1_24_NHS_review was removed from gene: KCNA3.
Skeletal dysplasia v6.9 NEPRO Eleanor Williams commented on gene: NEPRO: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Skeletal dysplasia v6.9 MGP Eleanor Williams commented on gene: MGP: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Skeletal dysplasia v6.9 CBFB Eleanor Williams commented on gene: CBFB: The rating of this gene has been updated to green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.
Intellectual disability v7.41 HSD17B10 Achchuthan Shanmugasundram Tag Q1_24_MOI was removed from gene: HSD17B10.
Intellectual disability v7.41 DHX37 Achchuthan Shanmugasundram Tag Q1_24_MOI was removed from gene: DHX37.
Tag Q1_24_NHS_review was removed from gene: DHX37.
Paediatric or syndromic cardiomyopathy v5.12 PLD1 Eleanor Williams Tag Q2_24_demote_red was removed from gene: PLD1.
Tag Q2_24_expert_review was removed from gene: PLD1.
Tag Q2_24_NHS_review was removed from gene: PLD1.
Intellectual disability v7.41 CLEC16A Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: CLEC16A.
Intellectual disability v7.41 CAMSAP1 Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: CAMSAP1.
Intellectual disability v7.41 BAZ2B Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: BAZ2B.
Paediatric or syndromic cardiomyopathy v5.12 NEXN Eleanor Williams Tag Q2_24_MOI was removed from gene: NEXN.
Tag Q2_24_NHS_review was removed from gene: NEXN.
Paediatric or syndromic cardiomyopathy v5.12 MT-TI Eleanor Williams Tag Q2_24_promote_green was removed from gene: MT-TI.
Paediatric or syndromic cardiomyopathy v5.12 CASZ1 Eleanor Williams Tag Q2_24_promote_green was removed from gene: CASZ1.
Paediatric or syndromic cardiomyopathy v5.12 CAMK2D Eleanor Williams Tag Q2_24_promote_green was removed from gene: CAMK2D.
Intellectual disability v7.41 ACBD6 Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: ACBD6.
Skeletal dysplasia v6.8 NEPRO Eleanor Williams commented on gene: NEPRO: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Skeletal dysplasia v6.8 MGP Eleanor Williams commented on gene: MGP: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Skeletal dysplasia v6.8 CBFB Eleanor Williams commented on gene: CBFB: The rating of this gene has been updated to green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v5.12 PLD1 Eleanor Williams commented on gene: PLD1
Paediatric or syndromic cardiomyopathy v5.12 NEXN Eleanor Williams reviewed gene: NEXN: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v5.12 MT-TI Eleanor Williams reviewed gene: MT-TI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL
Paediatric or syndromic cardiomyopathy v5.12 CASZ1 Eleanor Williams reviewed gene: CASZ1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric or syndromic cardiomyopathy v5.12 CAMK2D Eleanor Williams reviewed gene: CAMK2D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v6.7 NEPRO Eleanor Williams commented on gene: NEPRO: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Skeletal dysplasia v6.7 MGP Eleanor Williams commented on gene: MGP: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Skeletal dysplasia v6.7 CBFB Eleanor Williams commented on gene: CBFB: The rating of this gene has been updated to green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.
Skeletal dysplasia v6.7 NEPRO Eleanor Williams reviewed gene: NEPRO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v6.7 MGP Eleanor Williams edited their review of gene: MGP: Added comment: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v6.7 CBFB Eleanor Williams reviewed gene: CBFB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v7.41 ABCC9 Achchuthan Shanmugasundram Tag Q1_24_MOI was removed from gene: ABCC9.
Tag Q1_24_NHS_review was removed from gene: ABCC9.
Paediatric or syndromic cardiomyopathy v5.11 NEXN Eleanor Williams Mode of inheritance for gene NEXN was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v5.11 MT-TI Eleanor Williams Source Expert Review Green was added to MT-TI.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v5.11 CASZ1 Eleanor Williams Source NHS GMS was added to CASZ1.
Source Expert Review Green was added to CASZ1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v5.11 CAMK2D Eleanor Williams Source NHS GMS was added to CAMK2D.
Source Expert Review Green was added to CAMK2D.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v6.6 NEPRO Sarah Leigh Source NHS GMS was added to NEPRO.
Source Expert Review Green was added to NEPRO.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v6.6 MGP Sarah Leigh Mode of inheritance for gene MGP was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v6.6 CBFB Sarah Leigh Source NHS GMS was added to CBFB.
Source Expert Review Green was added to CBFB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.41 ZNFX1 Achchuthan Shanmugasundram reviewed gene: ZNFX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v7.41 ZFX Achchuthan Shanmugasundram edited their review of gene: ZFX: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed 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 v7.41 ZFHX3 Achchuthan Shanmugasundram reviewed gene: ZFHX3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v7.41 WDR5 Achchuthan Shanmugasundram commented on gene: WDR5: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Intellectual disability v7.41 TBC1D2B Achchuthan Shanmugasundram reviewed gene: TBC1D2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v7.41 STX1A Achchuthan Shanmugasundram commented on gene: STX1A: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Intellectual disability v7.41 SOX9 Achchuthan Shanmugasundram reviewed gene: SOX9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability v7.41 SNF8 Achchuthan Shanmugasundram commented on gene: SNF8: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Intellectual disability v7.41 SEPHS1 Achchuthan Shanmugasundram reviewed gene: SEPHS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v7.41 RNU4-2 Achchuthan Shanmugasundram reviewed gene: RNU4-2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v7.41 PLXNB2 Achchuthan Shanmugasundram commented on gene: PLXNB2: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Intellectual disability v7.41 MAST3 Achchuthan Shanmugasundram reviewed gene: MAST3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v7.41 LGI3 Achchuthan Shanmugasundram commented on gene: LGI3: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Intellectual disability v7.41 KIRREL3 Achchuthan Shanmugasundram reviewed gene: KIRREL3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v7.41 KCNB2 Achchuthan Shanmugasundram commented on gene: KCNB2: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Intellectual disability v7.41 KCNA3 Achchuthan Shanmugasundram commented on gene: KCNA3: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Intellectual disability v7.41 ITSN1 Achchuthan Shanmugasundram commented on gene: ITSN1: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.
Intellectual disability v7.41 HSD17B10 Achchuthan Shanmugasundram reviewed gene: HSD17B10: Rating: ; Mode of pathogenicity: ; Publications: ; 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)
Intellectual disability v7.41 GTF3C5 Achchuthan Shanmugasundram commented on gene: GTF3C5: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Intellectual disability v7.41 GLI3 Achchuthan Shanmugasundram reviewed gene: GLI3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability v7.41 GAN Achchuthan Shanmugasundram reviewed gene: GAN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v7.41 FEM1B Achchuthan Shanmugasundram commented on gene: FEM1B: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Intellectual disability v7.41 FAM177A1 Achchuthan Shanmugasundram commented on gene: FAM177A1: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Intellectual disability v7.41 EZH1 Achchuthan Shanmugasundram commented on gene: EZH1: The rating of this gene has been updated to green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Intellectual disability v7.41 DOCK4 Achchuthan Shanmugasundram commented on gene: DOCK4: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Intellectual disability v7.41 DHX37 Achchuthan Shanmugasundram reviewed gene: DHX37: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v7.41 DENND5B Achchuthan Shanmugasundram reviewed gene: DENND5B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v7.41 CLEC16A Achchuthan Shanmugasundram reviewed gene: CLEC16A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v7.41 CAMSAP1 Achchuthan Shanmugasundram commented on gene: CAMSAP1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Intellectual disability v7.41 CAMK2D Achchuthan Shanmugasundram commented on gene: CAMK2D: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Intellectual disability v7.41 BAZ2B Achchuthan Shanmugasundram commented on gene: BAZ2B: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Intellectual disability v7.41 ANO4 Achchuthan Shanmugasundram reviewed gene: ANO4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v7.41 ADGRL1 Achchuthan Shanmugasundram commented on gene: ADGRL1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Intellectual disability v7.41 ACBD6 Achchuthan Shanmugasundram reviewed gene: ACBD6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v7.41 ABCC9 Achchuthan Shanmugasundram reviewed gene: ABCC9: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
White matter disorders and cerebral calcification - narrow panel v5.3 HMBS Sarah Leigh Tag Q1_24_promote_green was removed from gene: HMBS.
White matter disorders and cerebral calcification - narrow panel v5.3 NAA60 Sarah Leigh Tag Q2_24_promote_green was removed from gene: NAA60.
Tag Q2_24_NHS_review was removed from gene: NAA60.
White matter disorders and cerebral calcification - narrow panel v5.3 NAA60 Eleanor Williams reviewed gene: NAA60: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
White matter disorders and cerebral calcification - narrow panel v5.3 HMBS Eleanor Williams reviewed gene: HMBS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
NICE approved PARP inhibitor treatment v0.5 BRCA2 Eleanor Williams reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
NICE approved PARP inhibitor treatment v0.5 BRCA1 Eleanor Williams reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
NICE approved PARP inhibitor treatment v0.4 BRCA2 Eleanor Williams Source Expert Review Green was added to BRCA2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
NICE approved PARP inhibitor treatment v0.4 BRCA1 Eleanor Williams Source Expert Review Green was added to BRCA1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - narrow panel v5.2 NAA60 Sarah Leigh Source NHS GMS was added to NAA60.
Source Expert Review Green was added to NAA60.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - narrow panel v5.2 HMBS Sarah Leigh Source NHS GMS was added to HMBS.
Source Expert Review Green was added to HMBS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Neurological segmental overgrowth v2.16 MAX Eleanor Williams Tag Q2_24_promote_green was removed from gene: MAX.
Tag Q2_24_NHS_review was removed from gene: MAX.
Neurological segmental overgrowth v2.16 MAX Eleanor Williams reviewed gene: MAX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurological segmental overgrowth v2.15 MAX Eleanor Williams Source NHS GMS was added to MAX.
Source Expert Review Green was added to MAX.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Neurological ciliopathies v4.8 EXOC3L2 Eleanor Williams Tag Q1_24_promote_green was removed from gene: EXOC3L2.
Neurological ciliopathies v4.8 EXOC3L2 Eleanor Williams reviewed gene: EXOC3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurological ciliopathies v4.7 EXOC3L2 Eleanor Williams Source NHS GMS was added to EXOC3L2.
Source Expert Review Green was added to EXOC3L2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital muscular dystrophy v4.29 EMD Sarah Leigh Tag Skewed X-inactivation tag was added to gene: EMD.
Congenital muscular dystrophy v4.29 EMD Sarah Leigh Tag Q2_23_promote_green was removed from gene: EMD.
Tag Q2_23_NHS_review was removed from gene: EMD.
Congenital muscular dystrophy v4.29 PYROXD1 Sarah Leigh Tag Q2_23_promote_green was removed from gene: PYROXD1.
Tag Q2_23_NHS_review was removed from gene: PYROXD1.
Congenital muscular dystrophy v4.29 POGLUT1 Sarah Leigh Tag Q4_22_promote_green was removed from gene: POGLUT1.
Tag Q4_22_NHS_review was removed from gene: POGLUT1.
Congenital muscular dystrophy v4.29 GOSR2 Sarah Leigh Tag Q4_22_promote_green was removed from gene: GOSR2.
Tag Q1_23_NHS_review was removed from gene: GOSR2.
Congenital muscular dystrophy v4.29 GOLGA2 Sarah Leigh Tag Q4_23_promote_green was removed from gene: GOLGA2.
Tag Q4_23_NHS_review was removed from gene: GOLGA2.
Congenital muscular dystrophy v4.29 EMD Sarah Leigh changed review comment from: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains X-LINKED: hemizygous mutation in males, biallelic mutations in females.; to: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. The mode of inheritance of this gene has not been changed and remains X-LINKED: hemizygous mutation in males, biallelic mutations in females. Skewed X inactivation can mimic XLR so it is safer from an analytical perspective to have MOI as hemizygous mutation in males, monoallelic mutations in females may cause disease.
Congenital muscular dystrophy v4.29 DTNA Sarah Leigh Tag Q1_23_promote_green was removed from gene: DTNA.
Tag Q1_23_NHS_review was removed from gene: DTNA.
Congenital muscular dystrophy v4.29 COL4A1 Sarah Leigh Tag Q3_23_promote_green was removed from gene: COL4A1.
Tag Q3_23_NHS_review was removed from gene: COL4A1.
Congenital muscular dystrophy v4.29 COL4A1 Sarah Leigh changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. Insufficient evidence for CMD, however decision may be different for other panels as been implicated with muscle cramps.
Congenital muscular dystrophy v4.29 BET1 Sarah Leigh Tag Q4_22_promote_green was removed from gene: BET1.
Tag Q1_23_NHS_review was removed from gene: BET1.
Congenital muscular dystrophy v4.29 DPM3 Sarah Leigh Tag Q1_23_promote_green was removed from gene: DPM3.
Tag Q1_23_NHS_review was removed from gene: DPM3.
Congenital muscular dystrophy v4.28 COL4A1 Sarah Leigh edited their review of gene: COL4A1: Added comment: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber.; Changed rating: AMBER; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital muscular dystrophy v4.28 PYROXD1 Sarah Leigh reviewed gene: PYROXD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v4.28 POGLUT1 Sarah Leigh edited their review of gene: POGLUT1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v4.28 GOSR2 Sarah Leigh reviewed gene: GOSR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v4.28 GOLGA2 Sarah Leigh reviewed gene: GOLGA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v4.28 EMD Sarah Leigh commented on gene: EMD
Congenital muscular dystrophy v4.28 DTNA Sarah Leigh reviewed gene: DTNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital muscular dystrophy v4.28 DPM3 Sarah Leigh edited their review of gene: DPM3: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v4.28 BET1 Sarah Leigh reviewed gene: BET1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v7.40 ZNFX1 Achchuthan Shanmugasundram Source NHS GMS was added to ZNFX1.
Source Expert Review Green was added to ZNFX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 ZFX Achchuthan Shanmugasundram Source NHS GMS was added to ZFX.
Source Expert Review Green was added to ZFX.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 ZFHX3 Achchuthan Shanmugasundram Source NHS GMS was added to ZFHX3.
Source Expert Review Green was added to ZFHX3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 WDR5 Achchuthan Shanmugasundram Source NHS GMS was added to WDR5.
Source Expert Review Green was added to WDR5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 TBC1D2B Achchuthan Shanmugasundram Source NHS GMS was added to TBC1D2B.
Source Expert Review Green was added to TBC1D2B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 STX1A Achchuthan Shanmugasundram Source NHS GMS was added to STX1A.
Source Expert Review Green was added to STX1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 SOX9 Achchuthan Shanmugasundram Source Expert Review Amber was added to SOX9.
Source NHS GMS was added to SOX9.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Intellectual disability v7.40 SNF8 Achchuthan Shanmugasundram Source NHS GMS was added to SNF8.
Source Expert Review Green was added to SNF8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 SEPHS1 Achchuthan Shanmugasundram Source NHS GMS was added to SEPHS1.
Source Expert Review Green was added to SEPHS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 RNU4-2 Achchuthan Shanmugasundram Source NHS GMS was added to RNU4-2.
Source Expert Review Green was added to RNU4-2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 PLXNB2 Achchuthan Shanmugasundram Source NHS GMS was added to PLXNB2.
Source Expert Review Green was added to PLXNB2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 MAST3 Achchuthan Shanmugasundram Source NHS GMS was added to MAST3.
Source Expert Review Green was added to MAST3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 LGI3 Achchuthan Shanmugasundram Source NHS GMS was added to LGI3.
Source Expert Review Green was added to LGI3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 KIRREL3 Achchuthan Shanmugasundram Source NHS GMS was added to KIRREL3.
Source Expert Review Green was added to KIRREL3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 KCNB2 Achchuthan Shanmugasundram Source NHS GMS was added to KCNB2.
Source Expert Review Green was added to KCNB2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 KCNA3 Achchuthan Shanmugasundram Source NHS GMS was added to KCNA3.
Source Expert Review Green was added to KCNA3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 ITSN1 Achchuthan Shanmugasundram Source NHS GMS was added to ITSN1.
Source Expert Review Green was added to ITSN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 HSD17B10 Achchuthan Shanmugasundram Source NHS GMS was added to HSD17B10.
Mode of inheritance for gene HSD17B10 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability v7.40 GTF3C5 Achchuthan Shanmugasundram Source NHS GMS was added to GTF3C5.
Source Expert Review Green was added to GTF3C5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 GLI3 Achchuthan Shanmugasundram Source Expert Review Amber was added to GLI3.
Source NHS GMS was added to GLI3.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Intellectual disability v7.40 GAN Achchuthan Shanmugasundram Source NHS GMS was added to GAN.
Source Expert Review Green was added to GAN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 FEM1B Achchuthan Shanmugasundram Source NHS GMS was added to FEM1B.
Source Expert Review Green was added to FEM1B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 FAM177A1 Achchuthan Shanmugasundram Source NHS GMS was added to FAM177A1.
Source Expert Review Green was added to FAM177A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 EZH1 Achchuthan Shanmugasundram Source NHS GMS was added to EZH1.
Source Expert Review Green was added to EZH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 DOCK4 Achchuthan Shanmugasundram Source NHS GMS was added to DOCK4.
Source Expert Review Green was added to DOCK4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 DHX37 Achchuthan Shanmugasundram Source NHS GMS was added to DHX37.
Mode of inheritance for gene DHX37 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v7.40 DENND5B Achchuthan Shanmugasundram Source NHS GMS was added to DENND5B.
Source Expert Review Green was added to DENND5B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 CLEC16A Achchuthan Shanmugasundram Source NHS GMS was added to CLEC16A.
Source Expert Review Green was added to CLEC16A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 CAMSAP1 Achchuthan Shanmugasundram Source NHS GMS was added to CAMSAP1.
Source Expert Review Green was added to CAMSAP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 CAMK2D Achchuthan Shanmugasundram Source NHS GMS was added to CAMK2D.
Source Expert Review Green was added to CAMK2D.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 BAZ2B Achchuthan Shanmugasundram Source NHS GMS was added to BAZ2B.
Source Expert Review Green was added to BAZ2B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 ANO4 Achchuthan Shanmugasundram Source NHS GMS was added to ANO4.
Source Expert Review Green was added to ANO4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 ADGRL1 Achchuthan Shanmugasundram Source NHS GMS was added to ADGRL1.
Source Expert Review Green was added to ADGRL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 ACBD6 Achchuthan Shanmugasundram Source NHS GMS was added to ACBD6.
Source Expert Review Green was added to ACBD6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 ABCC9 Achchuthan Shanmugasundram Source NHS GMS was added to ABCC9.
Mode of inheritance for gene ABCC9 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v4.27 PYROXD1 Sarah Leigh Source NHS GMS was added to PYROXD1.
Source Expert Review Green was added to PYROXD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital muscular dystrophy v4.27 POGLUT1 Sarah Leigh Source Expert Review Green was added to POGLUT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital muscular dystrophy v4.27 GOSR2 Sarah Leigh Source Expert Review Green was added to GOSR2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital muscular dystrophy v4.27 GOLGA2 Sarah Leigh Source Expert Review Green was added to GOLGA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital muscular dystrophy v4.27 EMD Sarah Leigh Source NHS GMS was added to EMD.
Source Expert Review Green was added to EMD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital muscular dystrophy v4.27 DTNA Sarah Leigh Source NHS GMS was added to DTNA.
Source Expert Review Green was added to DTNA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital muscular dystrophy v4.27 DPM3 Sarah Leigh Source Expert Review Green was added to DPM3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital muscular dystrophy v4.27 BET1 Sarah Leigh Source Expert Review Green was added to BET1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.16 XK Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: XK.
Tag Q2_24_NHS_review was removed from gene: XK.
Hereditary neuropathy or pain disorder v5.16 TYMP Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: TYMP.
Tag Q2_24_NHS_review was removed from gene: TYMP.
Hereditary neuropathy or pain disorder v5.16 SURF1 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: SURF1.
Tag Q2_24_NHS_review was removed from gene: SURF1.
Hereditary neuropathy or pain disorder v5.16 SLC25A19 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: SLC25A19.
Tag Q2_24_NHS_review was removed from gene: SLC25A19.
Hereditary neuropathy or pain disorder v5.16 SCARB2 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: SCARB2.
Tag Q2_24_NHS_review was removed from gene: SCARB2.
Hereditary neuropathy or pain disorder v5.16 SACS Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: SACS.
Tag Q2_24_NHS_review was removed from gene: SACS.
Hereditary neuropathy or pain disorder v5.16 RTN2 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: RTN2.
Tag Q2_24_NHS_review was removed from gene: RTN2.
Hereditary neuropathy or pain disorder v5.16 POLR3A Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: POLR3A.
Tag Q2_24_NHS_review was removed from gene: POLR3A.
Hereditary neuropathy or pain disorder v5.16 PNPLA6 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: PNPLA6.
Tag Q2_24_NHS_review was removed from gene: PNPLA6.
Hereditary neuropathy or pain disorder v5.16 PMM2 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: PMM2.
Tag Q2_24_NHS_review was removed from gene: PMM2.
Hereditary neuropathy or pain disorder v5.16 PLP1 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: PLP1.
Tag Q2_24_NHS_review was removed from gene: PLP1.
Hereditary neuropathy or pain disorder v5.16 PEX7 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: PEX7.
Tag Q2_24_NHS_review was removed from gene: PEX7.
Hereditary neuropathy or pain disorder v5.16 PEX10 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: PEX10.
Tag Q2_24_NHS_review was removed from gene: PEX10.
Hereditary neuropathy or pain disorder v5.16 PDYN Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: PDYN.
Tag Q2_24_NHS_review was removed from gene: PDYN.
Hereditary neuropathy or pain disorder v5.16 PDXK Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: PDXK.
Hereditary neuropathy or pain disorder v5.16 NAGA Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: NAGA.
Tag Q2_24_NHS_review was removed from gene: NAGA.
Hereditary neuropathy or pain disorder v5.16 MTTP Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: MTTP.
Tag Q2_24_NHS_review was removed from gene: MTTP.
Hereditary neuropathy or pain disorder v5.16 MMACHC Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: MMACHC.
Tag Q2_24_NHS_review was removed from gene: MMACHC.
Hereditary neuropathy or pain disorder v5.16 LYST Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: LYST.
Tag Q2_24_NHS_review was removed from gene: LYST.
Hereditary neuropathy or pain disorder v5.16 IARS2 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: IARS2.
Tag Q2_24_NHS_review was removed from gene: IARS2.
Hereditary neuropathy or pain disorder v5.16 GBA2 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: GBA2.
Tag Q2_24_NHS_review was removed from gene: GBA2.
Hereditary neuropathy or pain disorder v5.16 GAN Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: GAN.
Tag Q2_24_NHS_review was removed from gene: GAN.
Hereditary neuropathy or pain disorder v5.16 GALC Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: GALC.
Tag Q2_24_NHS_review was removed from gene: GALC.
Hereditary neuropathy or pain disorder v5.16 FXN Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: FXN.
Tag Q2_24_NHS_review was removed from gene: FXN.
Hereditary neuropathy or pain disorder v5.16 CADM3 Achchuthan Shanmugasundram Tag watchlist was removed from gene: CADM3.
Tag Q2_24_promote_green was removed from gene: CADM3.
Tag Q2_24_NHS_review was removed from gene: CADM3.
Hereditary neuropathy or pain disorder v5.16 BCKDHB Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: BCKDHB.
Tag Q2_24_NHS_review was removed from gene: BCKDHB.
Hereditary neuropathy or pain disorder v5.16 B4GALNT1 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: B4GALNT1.
Tag Q2_24_NHS_review was removed from gene: B4GALNT1.
Hereditary neuropathy or pain disorder v5.16 APOA1 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: APOA1.
Tag Q2_24_NHS_review was removed from gene: APOA1.
Hereditary neuropathy or pain disorder v5.16 AGXT Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: AGXT.
Tag Q2_24_NHS_review was removed from gene: AGXT.
Hereditary neuropathy or pain disorder v5.16 ABHD12 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: ABHD12.
Tag Q2_24_NHS_review was removed from gene: ABHD12.
Childhood onset dystonia, chorea or related movement disorder v5.3 HSD17B10 Sarah Leigh Tag Q1_24_promote_green was removed from gene: HSD17B10.
Hereditary neuropathy or pain disorder v5.16 SPG7 Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: SPG7.
Tag Q1_24_NHS_review was removed from gene: SPG7.
Childhood onset dystonia, chorea or related movement disorder v5.3 ACBD6 Sarah Leigh Tag Q1_24_promote_green was removed from gene: ACBD6.
Hereditary neuropathy or pain disorder v5.16 HMBS Achchuthan Shanmugasundram Tag Q1_24_MOI was removed from gene: HMBS.
Hereditary neuropathy or pain disorder v5.16 COQ7 Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: COQ7.
Tag Q1_24_NHS_review was removed from gene: COQ7.
Childhood onset dystonia, chorea or related movement disorder v5.3 PRNP Sarah Leigh Tag Q1_24_demote_red was removed from gene: PRNP.
Tag Q1_24_expert_review was removed from gene: PRNP.
Hereditary neuropathy or pain disorder v5.16 XK Achchuthan Shanmugasundram reviewed gene: XK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary neuropathy or pain disorder v5.16 TYMP Achchuthan Shanmugasundram reviewed gene: TYMP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 SURF1 Achchuthan Shanmugasundram reviewed gene: SURF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 SPG7 Achchuthan Shanmugasundram reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 SLC25A19 Achchuthan Shanmugasundram reviewed gene: SLC25A19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 SCARB2 Achchuthan Shanmugasundram reviewed gene: SCARB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 SACS Achchuthan Shanmugasundram reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 RTN2 Achchuthan Shanmugasundram commented on gene: RTN2: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Hereditary neuropathy or pain disorder v5.16 POLR3A Achchuthan Shanmugasundram reviewed gene: POLR3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 PNPLA6 Achchuthan Shanmugasundram reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 PMM2 Achchuthan Shanmugasundram reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 PLP1 Achchuthan Shanmugasundram reviewed gene: PLP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary neuropathy or pain disorder v5.16 PEX7 Achchuthan Shanmugasundram reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 PEX10 Achchuthan Shanmugasundram reviewed gene: PEX10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 PDYN Achchuthan Shanmugasundram reviewed gene: PDYN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder v5.16 PDXK Achchuthan Shanmugasundram commented on gene: PDXK: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Hereditary neuropathy or pain disorder v5.16 NAGA Achchuthan Shanmugasundram reviewed gene: NAGA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 MTTP Achchuthan Shanmugasundram reviewed gene: MTTP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 MMACHC Achchuthan Shanmugasundram reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 LYST Achchuthan Shanmugasundram reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 IARS2 Achchuthan Shanmugasundram reviewed gene: IARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 HMBS Achchuthan Shanmugasundram commented on gene: HMBS: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Hereditary neuropathy or pain disorder v5.16 GBA2 Achchuthan Shanmugasundram reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 GAN Achchuthan Shanmugasundram reviewed gene: GAN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 GALC Achchuthan Shanmugasundram reviewed gene: GALC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 FXN Achchuthan Shanmugasundram reviewed gene: FXN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 COQ7 Achchuthan Shanmugasundram commented on gene: COQ7: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Hereditary neuropathy or pain disorder v5.16 CADM3 Achchuthan Shanmugasundram commented on gene: CADM3: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Hereditary neuropathy or pain disorder v5.16 BCKDHB Achchuthan Shanmugasundram reviewed gene: BCKDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 B4GALNT1 Achchuthan Shanmugasundram reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 APOA1 Achchuthan Shanmugasundram reviewed gene: APOA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder v5.16 AGXT Achchuthan Shanmugasundram reviewed gene: AGXT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 ABHD12 Achchuthan Shanmugasundram reviewed gene: ABHD12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v5.3 MT-TT Sarah Leigh Tag Q2_24_promote_green was removed from gene: MT-TT.
Tag Q2_24_expert_review was removed from gene: MT-TT.
Hereditary neuropathy or pain disorder v5.15 XK Achchuthan Shanmugasundram Source Expert Review Green was added to XK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 TYMP Achchuthan Shanmugasundram Source Expert Review Green was added to TYMP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 SURF1 Achchuthan Shanmugasundram Source Expert Review Green was added to SURF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 SPG7 Achchuthan Shanmugasundram Source Expert Review Green was added to SPG7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 SLC25A19 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC25A19.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 SCARB2 Achchuthan Shanmugasundram Source Expert Review Green was added to SCARB2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 SACS Achchuthan Shanmugasundram Source Expert Review Green was added to SACS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 RTN2 Achchuthan Shanmugasundram Source NHS GMS was added to RTN2.
Source Expert Review Green was added to RTN2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 POLR3A Achchuthan Shanmugasundram Source Expert Review Green was added to POLR3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 PNPLA6 Achchuthan Shanmugasundram Source Expert Review Green was added to PNPLA6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 PMM2 Achchuthan Shanmugasundram Source Expert Review Green was added to PMM2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 PLP1 Achchuthan Shanmugasundram Source Expert Review Green was added to PLP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 PEX7 Achchuthan Shanmugasundram Source Expert Review Green was added to PEX7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 PEX10 Achchuthan Shanmugasundram Source Expert Review Green was added to PEX10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 PDYN Achchuthan Shanmugasundram Source Expert Review Green was added to PDYN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 PDXK Achchuthan Shanmugasundram Source NHS GMS was added to PDXK.
Source Expert Review Green was added to PDXK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 NAGA Achchuthan Shanmugasundram Source Expert Review Green was added to NAGA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 MTTP Achchuthan Shanmugasundram Source Expert Review Green was added to MTTP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 MMACHC Achchuthan Shanmugasundram Source Expert Review Green was added to MMACHC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 LYST Achchuthan Shanmugasundram Source Expert Review Green was added to LYST.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 IARS2 Achchuthan Shanmugasundram Source Expert Review Green was added to IARS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 HMBS Achchuthan Shanmugasundram Mode of inheritance for gene HMBS was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.15 GBA2 Achchuthan Shanmugasundram Source Expert Review Green was added to GBA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 GAN Achchuthan Shanmugasundram Source Expert Review Green was added to GAN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 GALC Achchuthan Shanmugasundram Source Expert Review Green was added to GALC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 FXN Achchuthan Shanmugasundram Source Expert Review Green was added to FXN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 COQ7 Achchuthan Shanmugasundram Source Expert Review Green was added to COQ7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 CADM3 Achchuthan Shanmugasundram Source NHS GMS was added to CADM3.
Source Expert Review Green was added to CADM3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 BCKDHB Achchuthan Shanmugasundram Source Expert Review Green was added to BCKDHB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 B4GALNT1 Achchuthan Shanmugasundram Source Expert Review Green was added to B4GALNT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 APOA1 Achchuthan Shanmugasundram Source Expert Review Green was added to APOA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 AGXT Achchuthan Shanmugasundram Source Expert Review Green was added to AGXT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 ABHD12 Achchuthan Shanmugasundram Source Expert Review Green was added to ABHD12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v5.3 MT-TT Sarah Leigh commented on gene: MT-TT: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains grey. Adding this gene to this panel is not consistent with the fact that there are no other similar presenting mitochondrial genes on this panel. Mitochondrial causes of childhood dystonia and movement disorders would be best tested off other more appropriate Clinical Indications.
Childhood onset dystonia, chorea or related movement disorder v5.3 PRNP Sarah Leigh reviewed gene: PRNP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset dystonia, chorea or related movement disorder v5.3 HSD17B10 Sarah Leigh reviewed gene: HSD17B10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; 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)
Childhood onset dystonia, chorea or related movement disorder v5.3 ACBD6 Sarah Leigh edited their review of gene: ACBD6: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v5.2 PRNP Sarah Leigh Source NHS GMS was added to PRNP.
Source Expert Review Red was added to PRNP.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Childhood onset dystonia, chorea or related movement disorder v5.2 HSD17B10 Sarah Leigh Source NHS GMS was added to HSD17B10.
Source Expert Review Green was added to HSD17B10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v5.2 ACBD6 Sarah Leigh Source NHS GMS was added to ACBD6.
Source Expert Review Green was added to ACBD6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary ataxia with onset in adulthood v6.7 NAA60 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: NAA60.
Tag Q2_24_NHS_review was removed from gene: NAA60.
Hereditary ataxia with onset in adulthood v6.7 MSTO1 Achchuthan Shanmugasundram Tag Q1_24_MOI was removed from gene: MSTO1.
Hereditary ataxia with onset in adulthood v6.7 NAA60 Achchuthan Shanmugasundram reviewed gene: NAA60: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v6.7 MSTO1 Achchuthan Shanmugasundram reviewed gene: MSTO1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v6.6 NAA60 Achchuthan Shanmugasundram Source NHS GMS was added to NAA60.
Source Expert Review Green was added to NAA60.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary ataxia with onset in adulthood v6.6 MSTO1 Achchuthan Shanmugasundram Mode of inheritance for gene MSTO1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v6.3 RTN2 Achchuthan Shanmugasundram Tag Q2_24_MOI was removed from gene: RTN2.
Tag Q2_24_NHS_review was removed from gene: RTN2.
Childhood onset hereditary spastic paraplegia v6.3 HMBS Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: HMBS.
Childhood onset hereditary spastic paraplegia v6.3 ACBD6 Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: ACBD6.
Bilateral congenital or childhood onset cataracts v5.4 LIM2 Sarah Leigh Tag Q2_24_MOI was removed from gene: LIM2.
Childhood onset hereditary spastic paraplegia v6.3 RTN2 Achchuthan Shanmugasundram commented on gene: RTN2: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Childhood onset hereditary spastic paraplegia v6.3 HMBS Achchuthan Shanmugasundram commented on gene: HMBS: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Childhood onset hereditary spastic paraplegia v6.3 ACBD6 Achchuthan Shanmugasundram reviewed gene: ACBD6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v6.2 RTN2 Achchuthan Shanmugasundram Mode of inheritance for gene RTN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v6.2 HMBS Achchuthan Shanmugasundram Source NHS GMS was added to HMBS.
Source Expert Review Green was added to HMBS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v6.2 ACBD6 Achchuthan Shanmugasundram Source NHS GMS was added to ACBD6.
Source Expert Review Green was added to ACBD6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.192 TLL1 Achchuthan Shanmugasundram Tag Q2_24_demote_amber was removed from gene: TLL1.
Tag Q2_24_NHS_review was removed from gene: TLL1.
Fetal anomalies v4.192 CELSR1 Achchuthan Shanmugasundram Tag Q2_24_demote_amber was removed from gene: CELSR1.
Tag Q2_24_NHS_review was removed from gene: CELSR1.
Bilateral congenital or childhood onset cataracts v5.4 LIM2 Sarah Leigh reviewed gene: LIM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bilateral congenital or childhood onset cataracts v5.3 LIM2 Sarah Leigh Source NHS GMS was added to LIM2.
Mode of inheritance for gene LIM2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v6.3 TANGO2 Sarah Leigh Tag Q2_24_promote_green was removed from gene: TANGO2.
Tag Q2_24_NHS_review was removed from gene: TANGO2.
Ataxia and cerebellar anomalies - narrow panel v6.3 MSTO1 Sarah Leigh Tag Q1_24_MOI was removed from gene: MSTO1.
Ataxia and cerebellar anomalies - narrow panel v6.3 HMBS Sarah Leigh Tag Q1_24_promote_green was removed from gene: HMBS.
Ataxia and cerebellar anomalies - narrow panel v6.3 ATP2B3 Sarah Leigh Tag Q2_24_promote_green was removed from gene: ATP2B3.
Ataxia and cerebellar anomalies - narrow panel v6.3 ACBD6 Sarah Leigh Tag Q1_24_promote_green was removed from gene: ACBD6.
Ataxia and cerebellar anomalies - narrow panel v6.3 TANGO2 Sarah Leigh reviewed gene: TANGO2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v6.3 MSTO1 Sarah Leigh commented on gene: MSTO1: The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Ataxia and cerebellar anomalies - narrow panel v6.3 HMBS Sarah Leigh reviewed gene: HMBS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v6.3 ATP2B3 Sarah Leigh reviewed gene: ATP2B3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Ataxia and cerebellar anomalies - narrow panel v6.3 ACBD6 Sarah Leigh edited their review of gene: ACBD6: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v6.2 TANGO2 Sarah Leigh Source NHS GMS was added to TANGO2.
Source Expert Review Green was added to TANGO2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v6.2 MSTO1 Sarah Leigh Mode of inheritance for gene MSTO1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v6.2 HMBS Sarah Leigh Source NHS GMS was added to HMBS.
Source Expert Review Green was added to HMBS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v6.2 ATP2B3 Sarah Leigh Source NHS GMS was added to ATP2B3.
Source Expert Review Green was added to ATP2B3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v6.2 ACBD6 Sarah Leigh Source NHS GMS was added to ACBD6.
Source Expert Review Green was added to ACBD6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v7.4 SLC18A3 Sarah Leigh Tag Q2_24_promote_green was removed from gene: SLC18A3.
Tag Q2_24_NHS_review was removed from gene: SLC18A3.
Arthrogryposis v7.4 PIP5K1C Sarah Leigh Tag Q2_24_promote_green was removed from gene: PIP5K1C.
Tag Q2_24_NHS_review was removed from gene: PIP5K1C.
Arthrogryposis v7.4 LGI3 Sarah Leigh Tag Q1_24_promote_green was removed from gene: LGI3.
Arthrogryposis v7.4 COASY Sarah Leigh Tag watchlist was removed from gene: COASY.
Tag Q2_24_promote_green was removed from gene: COASY.
Tag Q2_24_NHS_review was removed from gene: COASY.
Arthrogryposis v7.4 SLC35A3 Sarah Leigh reviewed gene: SLC35A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v7.4 SLC18A3 Sarah Leigh reviewed gene: SLC18A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v7.4 PIP5K1C Sarah Leigh reviewed gene: PIP5K1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v7.4 LGI3 Sarah Leigh reviewed gene: LGI3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v7.4 COASY Sarah Leigh reviewed gene: COASY: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v7.3 SLC35A3 Sarah Leigh Source NHS GMS was added to SLC35A3.
Source Expert Review Green was added to SLC35A3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v7.3 SLC18A3 Sarah Leigh Source NHS GMS was added to SLC18A3.
Source Expert Review Green was added to SLC18A3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v7.3 PIP5K1C Sarah Leigh Source NHS GMS was added to PIP5K1C.
Source Expert Review Green was added to PIP5K1C.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v7.3 LGI3 Sarah Leigh Source NHS GMS was added to LGI3.
Source Expert Review Green was added to LGI3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v7.3 COASY Sarah Leigh Source NHS GMS was added to COASY.
Source Expert Review Green was added to COASY.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.192 ZNF699 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ZNF699.
Tag Q3_24_NHS_review was removed from gene: ZNF699.
Fetal anomalies v4.192 ZNF526 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ZNF526.
Tag Q3_24_NHS_review was removed from gene: ZNF526.
Fetal anomalies v4.192 ZNF462 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ZNF462.
Tag Q3_24_NHS_review was removed from gene: ZNF462.
Fetal anomalies v4.192 ZNF335 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ZNF335.
Tag Q3_24_NHS_review was removed from gene: ZNF335.
Fetal anomalies v4.192 ZMYM2 Achchuthan Shanmugasundram Tag Q3_24_NHS_review was removed from gene: ZMYM2.
Tag Q3_24_MOI was removed from gene: ZMYM2.
Fetal anomalies v4.192 ZMIZ1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ZMIZ1.
Tag Q3_24_NHS_review was removed from gene: ZMIZ1.
Fetal anomalies v4.192 WWOX Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: WWOX.
Tag Q3_24_NHS_review was removed from gene: WWOX.
Fetal anomalies v4.192 WDR4 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: WDR4.
Tag Q3_24_NHS_review was removed from gene: WDR4.
Fetal anomalies v4.192 WDR37 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: WDR37.
Tag Q3_24_NHS_review was removed from gene: WDR37.
Fetal anomalies v4.192 VPS4A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: VPS4A.
Tag Q3_24_NHS_review was removed from gene: VPS4A.
Fetal anomalies v4.192 UBA2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: UBA2.
Tag Q3_24_NHS_review was removed from gene: UBA2.
Fetal anomalies v4.192 TSEN15 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: TSEN15.
Tag Q3_24_NHS_review was removed from gene: TSEN15.
Fetal anomalies v4.192 TRRAP Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: TRRAP.
Tag Q3_24_NHS_review was removed from gene: TRRAP.
Fetal anomalies v4.192 TRIM71 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: TRIM71.
Tag Q3_24_NHS_review was removed from gene: TRIM71.
Fetal anomalies v4.192 TP73 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: TP73.
Tag Q3_24_NHS_review was removed from gene: TP73.
Fetal anomalies v4.192 TOR1AIP1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: TOR1AIP1.
Tag Q3_24_NHS_review was removed from gene: TOR1AIP1.
Fetal anomalies v4.192 TMTC3 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: TMTC3.
Tag Q3_24_NHS_review was removed from gene: TMTC3.
Fetal anomalies v4.192 TMEM218 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: TMEM218.
Tag Q3_24_NHS_review was removed from gene: TMEM218.
Fetal anomalies v4.192 THOC2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: THOC2.
Tag Q3_24_NHS_review was removed from gene: THOC2.
Fetal anomalies v4.192 STT3A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: STT3A.
Tag Q3_24_NHS_review was removed from gene: STT3A.
Fetal anomalies v4.192 SPTB Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SPTB.
Tag Q3_24_NHS_review was removed from gene: SPTB.
Fetal anomalies v4.192 SPINT2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SPINT2.
Tag Q3_24_NHS_review was removed from gene: SPINT2.
Fetal anomalies v4.192 SPEN Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SPEN.
Tag Q3_24_NHS_review was removed from gene: SPEN.
Fetal anomalies v4.192 SOX11 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SOX11.
Tag Q3_24_NHS_review was removed from gene: SOX11.
Fetal anomalies v4.192 SMARCD1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SMARCD1.
Tag Q3_24_NHS_review was removed from gene: SMARCD1.
Fetal anomalies v4.192 SMAD2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SMAD2.
Tag Q3_24_NHS_review was removed from gene: SMAD2.
Fetal anomalies v4.192 SKIV2L Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SKIV2L.
Tag Q3_24_NHS_review was removed from gene: SKIV2L.
Fetal anomalies v4.192 SIN3A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SIN3A.
Tag Q3_24_NHS_review was removed from gene: SIN3A.
Fetal anomalies v4.192 SHMT2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SHMT2.
Tag Q3_24_NHS_review was removed from gene: SHMT2.
Fetal anomalies v4.192 SEMA3A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SEMA3A.
Tag Q3_24_NHS_review was removed from gene: SEMA3A.
Fetal anomalies v4.192 SCN5A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SCN5A.
Tag Q3_24_NHS_review was removed from gene: SCN5A.
Fetal anomalies v4.192 SCN3A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SCN3A.
Tag Q3_24_NHS_review was removed from gene: SCN3A.
Fetal anomalies v4.192 SCAF4 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SCAF4.
Tag Q3_24_NHS_review was removed from gene: SCAF4.
Fetal anomalies v4.192 RPL15 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: RPL15.
Tag Q3_24_NHS_review was removed from gene: RPL15.
Fetal anomalies v4.192 RNU12 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: RNU12.
Tag Q3_24_NHS_review was removed from gene: RNU12.
Fetal anomalies v4.192 RNF125 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: RNF125.
Tag Q3_24_NHS_review was removed from gene: RNF125.
Fetal anomalies v4.192 RNF113A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: RNF113A.
Tag Q3_24_NHS_review was removed from gene: RNF113A.
Fetal anomalies v4.192 RLIM Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: RLIM.
Tag Q3_24_NHS_review was removed from gene: RLIM.
Fetal anomalies v4.192 RBP4 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: RBP4.
Tag Q3_24_NHS_review was removed from gene: RBP4.
Fetal anomalies v4.192 RAD51 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: RAD51.
Tag Q3_24_NHS_review was removed from gene: RAD51.
Fetal anomalies v4.192 RAD50 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: RAD50.
Tag Q3_24_NHS_review was removed from gene: RAD50.
Fetal anomalies v4.192 PXDN Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PXDN.
Tag Q3_24_NHS_review was removed from gene: PXDN.
Fetal anomalies v4.192 PTPN23 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PTPN23.
Tag Q3_24_NHS_review was removed from gene: PTPN23.
Fetal anomalies v4.192 PRR12 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PRR12.
Tag Q3_24_NHS_review was removed from gene: PRR12.
Fetal anomalies v4.192 PRF1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PRF1.
Tag Q3_24_NHS_review was removed from gene: PRF1.
Fetal anomalies v4.192 PPP3CA Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PPP3CA.
Tag Q3_24_NHS_review was removed from gene: PPP3CA.
Fetal anomalies v4.192 PPP2R3C Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PPP2R3C.
Tag Q3_24_NHS_review was removed from gene: PPP2R3C.
Fetal anomalies v4.192 PPP2CA Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PPP2CA.
Tag Q3_24_NHS_review was removed from gene: PPP2CA.
Fetal anomalies v4.192 PPIL1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PPIL1.
Tag Q3_24_NHS_review was removed from gene: PPIL1.
Fetal anomalies v4.192 PLPBP Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PLPBP.
Tag Q3_24_NHS_review was removed from gene: PLPBP.
Fetal anomalies v4.192 PLEC Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PLEC.
Tag Q3_24_NHS_review was removed from gene: PLEC.
Fetal anomalies v4.192 PIGH Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PIGH.
Tag Q3_24_NHS_review was removed from gene: PIGH.
Fetal anomalies v4.192 PIDD1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PIDD1.
Tag Q3_24_NHS_review was removed from gene: PIDD1.
Fetal anomalies v4.192 PHF21A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PHF21A.
Tag Q3_24_NHS_review was removed from gene: PHF21A.
Fetal anomalies v4.192 PGAP1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PGAP1.
Tag Q3_24_NHS_review was removed from gene: PGAP1.
Fetal anomalies v4.192 PDE3A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PDE3A.
Tag Q3_24_NHS_review was removed from gene: PDE3A.
Fetal anomalies v4.192 PCDH12 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PCDH12.
Tag Q3_24_NHS_review was removed from gene: PCDH12.
Fetal anomalies v4.192 PAX1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PAX1.
Tag Q3_24_NHS_review was removed from gene: PAX1.
Fetal anomalies v4.192 PACS2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PACS2.
Tag Q3_24_NHS_review was removed from gene: PACS2.
Fetal anomalies v4.192 PACS1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PACS1.
Tag Q3_24_NHS_review was removed from gene: PACS1.
Fetal anomalies v4.192 OTUD6B Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: OTUD6B.
Tag Q3_24_NHS_review was removed from gene: OTUD6B.
Fetal anomalies v4.192 NUP188 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: NUP188.
Tag Q3_24_NHS_review was removed from gene: NUP188.
Fetal anomalies v4.192 NSRP1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: NSRP1.
Tag Q3_24_NHS_review was removed from gene: NSRP1.
Fetal anomalies v4.192 NONO Achchuthan Shanmugasundram Tag watchlist was removed from gene: NONO.
Tag Q3_24_promote_green was removed from gene: NONO.
Tag Q3_24_NHS_review was removed from gene: NONO.
Fetal anomalies v4.192 NFIB Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: NFIB.
Tag Q3_24_NHS_review was removed from gene: NFIB.
Fetal anomalies v4.192 NFIA Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: NFIA.
Tag Q3_24_NHS_review was removed from gene: NFIA.
Fetal anomalies v4.192 MYOD1 Achchuthan Shanmugasundram Tag watchlist was removed from gene: MYOD1.
Tag Q3_24_promote_green was removed from gene: MYOD1.
Tag Q3_24_NHS_review was removed from gene: MYOD1.
Fetal anomalies v4.192 MPDZ Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: MPDZ.
Tag Q3_24_NHS_review was removed from gene: MPDZ.
Fetal anomalies v4.192 MINPP1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: MINPP1.
Tag Q3_24_NHS_review was removed from gene: MINPP1.
Fetal anomalies v4.192 MED27 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: MED27.
Tag Q3_24_NHS_review was removed from gene: MED27.
Fetal anomalies v4.192 MED25 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: MED25.
Tag Q3_24_NHS_review was removed from gene: MED25.
Fetal anomalies v4.192 MCIDAS Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: MCIDAS.
Tag Q3_24_NHS_review was removed from gene: MCIDAS.
Fetal anomalies v4.192 MAPKAPK5 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: MAPKAPK5.
Tag Q3_24_NHS_review was removed from gene: MAPKAPK5.
Fetal anomalies v4.192 MAN2C1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: MAN2C1.
Tag Q3_24_NHS_review was removed from gene: MAN2C1.
Fetal anomalies v4.192 MAB21L1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: MAB21L1.
Tag Q3_24_NHS_review was removed from gene: MAB21L1.
Fetal anomalies v4.192 LTBP1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: LTBP1.
Tag Q3_24_NHS_review was removed from gene: LTBP1.
Fetal anomalies v4.192 KIF4A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: KIF4A.
Tag Q3_24_NHS_review was removed from gene: KIF4A.
Fetal anomalies v4.192 KIDINS220 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: KIDINS220.
Tag Q3_24_NHS_review was removed from gene: KIDINS220.
Tag to_be_confirmed_NHSE was removed from gene: KIDINS220.
Fetal anomalies v4.192 JAM3 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: JAM3.
Tag Q3_24_NHS_review was removed from gene: JAM3.
Fetal anomalies v4.192 IRX5 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: IRX5.
Tag Q3_24_NHS_review was removed from gene: IRX5.
Fetal anomalies v4.192 INTS1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: INTS1.
Tag Q3_24_NHS_review was removed from gene: INTS1.
Fetal anomalies v4.192 IFT74 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: IFT74.
Tag Q3_24_NHS_review was removed from gene: IFT74.
Fetal anomalies v4.192 HYAL2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: HYAL2.
Tag Q3_24_NHS_review was removed from gene: HYAL2.
Fetal anomalies v4.192 HSPA9 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: HSPA9.
Tag Q3_24_NHS_review was removed from gene: HSPA9.
Fetal anomalies v4.192 HS2ST1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: HS2ST1.
Tag Q3_24_NHS_review was removed from gene: HS2ST1.
Fetal anomalies v4.192 HNRNPH2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: HNRNPH2.
Tag Q3_24_NHS_review was removed from gene: HNRNPH2.
Fetal anomalies v4.192 HMX1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: HMX1.
Tag Q3_24_NHS_review was removed from gene: HMX1.
Fetal anomalies v4.192 HK1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: HK1.
Tag Q3_24_NHS_review was removed from gene: HK1.
Fetal anomalies v4.192 HHAT Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: HHAT.
Tag Q3_24_NHS_review was removed from gene: HHAT.
Fetal anomalies v4.192 H3F3A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: H3F3A.
Tag Q3_24_NHS_review was removed from gene: H3F3A.
Fetal anomalies v4.192 GTPBP2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: GTPBP2.
Tag Q3_24_NHS_review was removed from gene: GTPBP2.
Fetal anomalies v4.192 GRM7 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: GRM7.
Tag Q3_24_NHS_review was removed from gene: GRM7.
Fetal anomalies v4.192 GPX4 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: GPX4.
Tag Q3_24_NHS_review was removed from gene: GPX4.
Fetal anomalies v4.192 GHR Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: GHR.
Tag Q3_24_NHS_review was removed from gene: GHR.
Fetal anomalies v4.192 GFRA1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: GFRA1.
Tag Q3_24_NHS_review was removed from gene: GFRA1.
Fetal anomalies v4.192 GDF11 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: GDF11.
Tag Q3_24_NHS_review was removed from gene: GDF11.
Fetal anomalies v4.192 GATA1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: GATA1.
Tag Q3_24_NHS_review was removed from gene: GATA1.
Fetal anomalies v4.192 FRA10AC1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: FRA10AC1.
Tag Q3_24_NHS_review was removed from gene: FRA10AC1.
Fetal anomalies v4.192 FOXJ1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: FOXJ1.
Tag Q3_24_NHS_review was removed from gene: FOXJ1.
Fetal anomalies v4.192 FBRSL1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: FBRSL1.
Tag Q3_24_NHS_review was removed from gene: FBRSL1.
Fetal anomalies v4.192 FAT1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: FAT1.
Tag Q3_24_NHS_review was removed from gene: FAT1.
Fetal anomalies v4.192 FAM149B1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: FAM149B1.
Tag Q3_24_NHS_review was removed from gene: FAM149B1.
Fetal anomalies v4.192 EXOC7 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: EXOC7.
Tag Q3_24_NHS_review was removed from gene: EXOC7.
Fetal anomalies v4.192 ERBB3 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ERBB3.
Tag Q3_24_NHS_review was removed from gene: ERBB3.
Fetal anomalies v4.192 ERGIC1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ERGIC1.
Tag Q3_24_NHS_review was removed from gene: ERGIC1.
Fetal anomalies v4.192 EN1 Achchuthan Shanmugasundram Tag watchlist was removed from gene: EN1.
Tag Q3_24_promote_green was removed from gene: EN1.
Tag Q3_24_NHS_review was removed from gene: EN1.
Fetal anomalies v4.192 EFEMP2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: EFEMP2.
Tag Q3_24_NHS_review was removed from gene: EFEMP2.
Fetal anomalies v4.192 EEF2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: EEF2.
Tag Q3_24_NHS_review was removed from gene: EEF2.
Fetal anomalies v4.192 DYNC1I2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: DYNC1I2.
Tag Q3_24_NHS_review was removed from gene: DYNC1I2.
Fetal anomalies v4.192 DYNC1I1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: DYNC1I1.
Tag Q3_24_NHS_review was removed from gene: DYNC1I1.
Fetal anomalies v4.192 DPF2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: DPF2.
Tag Q3_24_NHS_review was removed from gene: DPF2.
Fetal anomalies v4.192 DLL1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: DLL1.
Tag Q3_24_NHS_review was removed from gene: DLL1.
Fetal anomalies v4.192 DEPDC5 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: DEPDC5.
Tag Q3_24_NHS_review was removed from gene: DEPDC5.
Fetal anomalies v4.192 DCC Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: DCC.
Tag Q3_24_NHS_review was removed from gene: DCC.
Fetal anomalies v4.192 CYBB Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: CYBB.
Tag Q3_24_NHS_review was removed from gene: CYBB.
Fetal anomalies v4.192 CTNNA2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: CTNNA2.
Tag Q3_24_NHS_review was removed from gene: CTNNA2.
Fetal anomalies v4.192 COA7 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: COA7.
Tag Q3_24_NHS_review was removed from gene: COA7.
Fetal anomalies v4.192 CLTC Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: CLTC.
Tag Q3_24_NHS_review was removed from gene: CLTC.
Fetal anomalies v4.192 CFAP52 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: CFAP52.
Tag Q3_24_NHS_review was removed from gene: CFAP52.
Fetal anomalies v4.192 CFAP45 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: CFAP45.
Tag Q3_24_NHS_review was removed from gene: CFAP45.
Fetal anomalies v4.192 CEP85L Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: CEP85L.
Tag Q3_23_NHS_review was removed from gene: CEP85L.
Fetal anomalies v4.192 CCDC22 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: CCDC22.
Tag Q3_24_NHS_review was removed from gene: CCDC22.
Fetal anomalies v4.192 C2orf69 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: C2orf69.
Tag Q3_24_NHS_review was removed from gene: C2orf69.
Fetal anomalies v4.192 C12orf57 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: C12orf57.
Tag Q3_24_NHS_review was removed from gene: C12orf57.
Fetal anomalies v4.192 BRD4 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: BRD4.
Tag Q3_24_NHS_review was removed from gene: BRD4.
Fetal anomalies v4.192 BRCA1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: BRCA1.
Tag Q3_24_NHS_review was removed from gene: BRCA1.
Fetal anomalies v4.192 ATN1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ATN1.
Tag Q3_24_NHS_review was removed from gene: ATN1.
Fetal anomalies v4.192 ATAD1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ATAD1.
Tag Q3_24_NHS_review was removed from gene: ATAD1.
Fetal anomalies v4.192 ARL3 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ARL3.
Tag Q3_24_NHS_review was removed from gene: ARL3.
Fetal anomalies v4.192 ARID2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ARID2.
Tag Q3_24_NHS_review was removed from gene: ARID2.
Fetal anomalies v4.192 APC2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: APC2.
Tag Q3_24_NHS_review was removed from gene: APC2.
Fetal anomalies v4.192 AP4S1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: AP4S1.
Tag Q3_24_NHS_review was removed from gene: AP4S1.
Fetal anomalies v4.192 AP4B1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: AP4B1.
Tag Q3_24_NHS_review was removed from gene: AP4B1.
Fetal anomalies v4.192 ANGPT2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ANGPT2.
Tag Q3_24_NHS_review was removed from gene: ANGPT2.
Fetal anomalies v4.192 ALPK3 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ALPK3.
Tag Q3_24_NHS_review was removed from gene: ALPK3.
Fetal anomalies v4.192 ALG14 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ALG14.
Tag Q3_24_NHS_review was removed from gene: ALG14.
Fetal anomalies v4.192 ALDH1A2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ALDH1A2.
Tag Q3_24_NHS_review was removed from gene: ALDH1A2.
Fetal anomalies v4.192 AFF3 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: AFF3.
Tag Q3_24_NHS_review was removed from gene: AFF3.
Fetal anomalies v4.192 ADCY6 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ADCY6.
Tag Q3_24_NHS_review was removed from gene: ADCY6.
Fetal anomalies v4.192 ACVRL1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ACVRL1.
Tag Q3_24_NHS_review was removed from gene: ACVRL1.
Fetal anomalies v4.192 ZNF699 Achchuthan Shanmugasundram edited their review of gene: ZNF699: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ZNF526 Achchuthan Shanmugasundram edited their review of gene: ZNF526: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ZNF462 Achchuthan Shanmugasundram edited their review of gene: ZNF462: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 ZNF335 Achchuthan Shanmugasundram edited their review of gene: ZNF335: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ZMYM2 Achchuthan Shanmugasundram edited their review of gene: ZMYM2: Added comment: The mode of inheritance of this gene has been updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 ZMIZ1 Achchuthan Shanmugasundram edited their review of gene: ZMIZ1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 WWOX Achchuthan Shanmugasundram edited their review of gene: WWOX: Added comment: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 WDR4 Achchuthan Shanmugasundram edited their review of gene: WDR4: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 WDR37 Achchuthan Shanmugasundram edited their review of gene: WDR37: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 VPS4A Achchuthan Shanmugasundram commented on gene: VPS4A: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v4.192 UBR7 Achchuthan Shanmugasundram edited their review of gene: UBR7: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 UBA2 Achchuthan Shanmugasundram edited their review of gene: UBA2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 TSEN15 Achchuthan Shanmugasundram edited their review of gene: TSEN15: Added comment: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 TRRAP Achchuthan Shanmugasundram edited their review of gene: TRRAP: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 TRIM71 Achchuthan Shanmugasundram edited their review of gene: TRIM71: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 TP73 Achchuthan Shanmugasundram edited their review of gene: TP73: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 TOR1AIP1 Achchuthan Shanmugasundram edited their review of gene: TOR1AIP1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 TMTC3 Achchuthan Shanmugasundram edited their review of gene: TMTC3: Added comment: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 TMEM218 Achchuthan Shanmugasundram edited their review of gene: TMEM218: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 TLL1 Achchuthan Shanmugasundram edited their review of gene: TLL1: Added comment: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.; Changed rating: AMBER
Fetal anomalies v4.192 THOC2 Achchuthan Shanmugasundram commented on gene: THOC2: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Fetal anomalies v4.192 STT3A Achchuthan Shanmugasundram edited their review of gene: STT3A: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.192 SPTB Achchuthan Shanmugasundram edited their review of gene: SPTB: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.192 SPINT2 Achchuthan Shanmugasundram edited their review of gene: SPINT2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 SPEN Achchuthan Shanmugasundram edited their review of gene: SPEN: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 SOX11 Achchuthan Shanmugasundram edited their review of gene: SOX11: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 SMARCD1 Achchuthan Shanmugasundram edited their review of gene: SMARCD1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 SMAD2 Achchuthan Shanmugasundram edited their review of gene: SMAD2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 SKIV2L Achchuthan Shanmugasundram edited their review of gene: SKIV2L: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 SIN3A Achchuthan Shanmugasundram edited their review of gene: SIN3A: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 SHMT2 Achchuthan Shanmugasundram edited their review of gene: SHMT2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 SEMA3A Achchuthan Shanmugasundram edited their review of gene: SEMA3A: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 SCN5A Achchuthan Shanmugasundram commented on gene: SCN5A: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v4.192 SCN3A Achchuthan Shanmugasundram edited their review of gene: SCN3A: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 SCAF4 Achchuthan Shanmugasundram edited their review of gene: SCAF4: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 RPL15 Achchuthan Shanmugasundram edited their review of gene: RPL15: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 RNU12 Achchuthan Shanmugasundram edited their review of gene: RNU12: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 RNF125 Achchuthan Shanmugasundram edited their review of gene: RNF125: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 RNF113A Achchuthan Shanmugasundram edited their review of gene: RNF113A: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, biallelic mutations in females following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.192 RLIM Achchuthan Shanmugasundram edited their review of gene: RLIM: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v4.192 RBP4 Achchuthan Shanmugasundram commented on gene: RBP4: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v4.192 RAD51 Achchuthan Shanmugasundram edited their review of gene: RAD51: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 RAD50 Achchuthan Shanmugasundram edited their review of gene: RAD50: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PXDN Achchuthan Shanmugasundram edited their review of gene: PXDN: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PTPN23 Achchuthan Shanmugasundram edited their review of gene: PTPN23: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PRR12 Achchuthan Shanmugasundram edited their review of gene: PRR12: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 PRF1 Achchuthan Shanmugasundram edited their review of gene: PRF1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PPP3CA Achchuthan Shanmugasundram edited their review of gene: PPP3CA: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 PPP2R3C Achchuthan Shanmugasundram edited their review of gene: PPP2R3C: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PPP2CA Achchuthan Shanmugasundram edited their review of gene: PPP2CA: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 PPIL1 Achchuthan Shanmugasundram edited their review of gene: PPIL1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PLPBP Achchuthan Shanmugasundram edited their review of gene: PLPBP: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PLEC Achchuthan Shanmugasundram edited their review of gene: PLEC: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.192 PIGH Achchuthan Shanmugasundram edited their review of gene: PIGH: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PIDD1 Achchuthan Shanmugasundram edited their review of gene: PIDD1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PHF21A Achchuthan Shanmugasundram edited their review of gene: PHF21A: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 PGAP1 Achchuthan Shanmugasundram edited their review of gene: PGAP1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PDE3A Achchuthan Shanmugasundram edited their review of gene: PDE3A: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 PCDH12 Achchuthan Shanmugasundram edited their review of gene: PCDH12: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PAX1 Achchuthan Shanmugasundram edited their review of gene: PAX1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PACS2 Achchuthan Shanmugasundram edited their review of gene: PACS2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 PACS1 Achchuthan Shanmugasundram edited their review of gene: PACS1: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 OTUD6B Achchuthan Shanmugasundram edited their review of gene: OTUD6B: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 NUP188 Achchuthan Shanmugasundram edited their review of gene: NUP188: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 NSRP1 Achchuthan Shanmugasundram edited their review of gene: NSRP1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 NONO Achchuthan Shanmugasundram edited their review of gene: NONO: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v4.192 NFIB Achchuthan Shanmugasundram edited their review of gene: NFIB: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 NFIA Achchuthan Shanmugasundram edited their review of gene: NFIA: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 MYOD1 Achchuthan Shanmugasundram edited their review of gene: MYOD1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 MPDZ Achchuthan Shanmugasundram edited their review of gene: MPDZ: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 MINPP1 Achchuthan Shanmugasundram edited their review of gene: MINPP1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 MED27 Achchuthan Shanmugasundram edited their review of gene: MED27: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 MED25 Achchuthan Shanmugasundram edited their review of gene: MED25: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 MCIDAS Achchuthan Shanmugasundram edited their review of gene: MCIDAS: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 MAPKAPK5 Achchuthan Shanmugasundram edited their review of gene: MAPKAPK5: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 MAN2C1 Achchuthan Shanmugasundram edited their review of gene: MAN2C1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 MAB21L1 Achchuthan Shanmugasundram edited their review of gene: MAB21L1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 LTBP1 Achchuthan Shanmugasundram edited their review of gene: LTBP1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 KIF4A Achchuthan Shanmugasundram edited their review of gene: KIF4A: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, biallelic mutations in females following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.192 KIDINS220 Achchuthan Shanmugasundram edited their review of gene: KIDINS220: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 JAM3 Achchuthan Shanmugasundram edited their review of gene: JAM3: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 IRX5 Achchuthan Shanmugasundram edited their review of gene: IRX5: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 INTS1 Achchuthan Shanmugasundram edited their review of gene: INTS1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 IFT74 Achchuthan Shanmugasundram edited their review of gene: IFT74: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 HYAL2 Achchuthan Shanmugasundram edited their review of gene: HYAL2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 HSPA9 Achchuthan Shanmugasundram edited their review of gene: HSPA9: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 HS2ST1 Achchuthan Shanmugasundram edited their review of gene: HS2ST1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 HNRNPH2 Achchuthan Shanmugasundram edited their review of gene: HNRNPH2: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v4.192 HMX1 Achchuthan Shanmugasundram edited their review of gene: HMX1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 HK1 Achchuthan Shanmugasundram edited their review of gene: HK1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v4.192 HHAT Achchuthan Shanmugasundram edited their review of gene: HHAT: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 H3F3A Achchuthan Shanmugasundram edited their review of gene: H3F3A: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 GTPBP2 Achchuthan Shanmugasundram edited their review of gene: GTPBP2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 GRM7 Achchuthan Shanmugasundram edited their review of gene: GRM7: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 GPX4 Achchuthan Shanmugasundram commented on gene: GPX4: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Fetal anomalies v4.192 GHR Achchuthan Shanmugasundram edited their review of gene: GHR: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 GFRA1 Achchuthan Shanmugasundram edited their review of gene: GFRA1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 GDF11 Achchuthan Shanmugasundram edited their review of gene: GDF11: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 GATA1 Achchuthan Shanmugasundram edited their review of gene: GATA1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.192 FRA10AC1 Achchuthan Shanmugasundram edited their review of gene: FRA10AC1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 FOXJ1 Achchuthan Shanmugasundram edited their review of gene: FOXJ1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 FBRSL1 Achchuthan Shanmugasundram edited their review of gene: FBRSL1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 FAT1 Achchuthan Shanmugasundram edited their review of gene: FAT1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 FAM149B1 Achchuthan Shanmugasundram edited their review of gene: FAM149B1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 EXOC7 Achchuthan Shanmugasundram edited their review of gene: EXOC7: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ERGIC1 Achchuthan Shanmugasundram edited their review of gene: ERGIC1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ERBB3 Achchuthan Shanmugasundram edited their review of gene: ERBB3: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 EN1 Achchuthan Shanmugasundram commented on gene: EN1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Fetal anomalies v4.192 EFEMP2 Achchuthan Shanmugasundram edited their review of gene: EFEMP2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 EEF2 Achchuthan Shanmugasundram edited their review of gene: EEF2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 DYNC1I2 Achchuthan Shanmugasundram edited their review of gene: DYNC1I2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 DYNC1I1 Achchuthan Shanmugasundram edited their review of gene: DYNC1I1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 DPF2 Achchuthan Shanmugasundram edited their review of gene: DPF2: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 DLL1 Achchuthan Shanmugasundram edited their review of gene: DLL1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 DEPDC5 Achchuthan Shanmugasundram edited their review of gene: DEPDC5: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 DCC Achchuthan Shanmugasundram commented on gene: DCC: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Fetal anomalies v4.192 CYBB Achchuthan Shanmugasundram commented on gene: CYBB: The rating of this gene has been updated to green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.
Fetal anomalies v4.192 CTNNA2 Achchuthan Shanmugasundram commented on gene: CTNNA2: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v4.192 COA7 Achchuthan Shanmugasundram edited their review of gene: COA7: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 CLTC Achchuthan Shanmugasundram edited their review of gene: CLTC: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 CFAP52 Achchuthan Shanmugasundram edited their review of gene: CFAP52: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 CFAP45 Achchuthan Shanmugasundram edited their review of gene: CFAP45: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 CEP85L Achchuthan Shanmugasundram edited their review of gene: CEP85L: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 CELSR1 Achchuthan Shanmugasundram edited their review of gene: CELSR1: Added comment: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.; Changed rating: AMBER
Fetal anomalies v4.192 CCDC22 Achchuthan Shanmugasundram edited their review of gene: CCDC22: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.192 C2orf69 Achchuthan Shanmugasundram edited their review of gene: C2orf69: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 C12orf57 Achchuthan Shanmugasundram edited their review of gene: C12orf57: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 BRD4 Achchuthan Shanmugasundram edited their review of gene: BRD4: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 BRCA1 Achchuthan Shanmugasundram edited their review of gene: BRCA1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ATN1 Achchuthan Shanmugasundram edited their review of gene: ATN1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 ATAD1 Achchuthan Shanmugasundram edited their review of gene: ATAD1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ARL3 Achchuthan Shanmugasundram edited their review of gene: ARL3: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ARID2 Achchuthan Shanmugasundram edited their review of gene: ARID2: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 APC2 Achchuthan Shanmugasundram edited their review of gene: APC2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 AP4S1 Achchuthan Shanmugasundram edited their review of gene: AP4S1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 AP4B1 Achchuthan Shanmugasundram edited their review of gene: AP4B1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ANGPT2 Achchuthan Shanmugasundram commented on gene: ANGPT2: The rating of this gene has been updated to green and the mode of inheritance updated to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v4.192 ALPK3 Achchuthan Shanmugasundram edited their review of gene: ALPK3: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ALG14 Achchuthan Shanmugasundram edited their review of gene: ALG14: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ALDH1A2 Achchuthan Shanmugasundram edited their review of gene: ALDH1A2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 AFF3 Achchuthan Shanmugasundram edited their review of gene: AFF3: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 ADCY6 Achchuthan Shanmugasundram edited their review of gene: ADCY6: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ACVRL1 Achchuthan Shanmugasundram edited their review of gene: ACVRL1: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.191 ZNF699 Achchuthan Shanmugasundram Source Expert Review Green was added to ZNF699.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ZNF526 Achchuthan Shanmugasundram Source Expert Review Green was added to ZNF526.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ZNF462 Achchuthan Shanmugasundram Source Expert Review Green was added to ZNF462.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ZNF335 Achchuthan Shanmugasundram Source Expert Review Green was added to ZNF335.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ZMYM2 Achchuthan Shanmugasundram Mode of inheritance for gene ZMYM2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.191 ZMIZ1 Achchuthan Shanmugasundram Source Expert Review Green was added to ZMIZ1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 WWOX Achchuthan Shanmugasundram Source NHS GMS was added to WWOX.
Source Expert Review Green was added to WWOX.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 WDR4 Achchuthan Shanmugasundram Source Expert Review Green was added to WDR4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 WDR37 Achchuthan Shanmugasundram Source Expert Review Green was added to WDR37.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 VPS4A Achchuthan Shanmugasundram Source Expert Review Green was added to VPS4A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 UBR7 Achchuthan Shanmugasundram Source Expert Review Green was added to UBR7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 UBA2 Achchuthan Shanmugasundram Source Expert Review Green was added to UBA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 TSEN15 Achchuthan Shanmugasundram Source NHS GMS was added to TSEN15.
Source Expert Review Green was added to TSEN15.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 TRRAP Achchuthan Shanmugasundram Source Expert Review Green was added to TRRAP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 TRIM71 Achchuthan Shanmugasundram Source Expert Review Green was added to TRIM71.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 TP73 Achchuthan Shanmugasundram Source Expert Review Green was added to TP73.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 TOR1AIP1 Achchuthan Shanmugasundram Source Expert Review Green was added to TOR1AIP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 TMTC3 Achchuthan Shanmugasundram Source NHS GMS was added to TMTC3.
Source Expert Review Green was added to TMTC3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 TMEM218 Achchuthan Shanmugasundram Source Expert Review Green was added to TMEM218.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 TLL1 Achchuthan Shanmugasundram Source Expert Review Amber was added to TLL1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v4.191 THOC2 Achchuthan Shanmugasundram Source NHS GMS was added to THOC2.
Source Expert Review Green was added to THOC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 STT3A Achchuthan Shanmugasundram Source Expert Review Green was added to STT3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SPTB Achchuthan Shanmugasundram Source Expert Review Green was added to SPTB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SPINT2 Achchuthan Shanmugasundram Source Expert Review Green was added to SPINT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SPEN Achchuthan Shanmugasundram Source Expert Review Green was added to SPEN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SOX11 Achchuthan Shanmugasundram Source Expert Review Green was added to SOX11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SMARCD1 Achchuthan Shanmugasundram Source Expert Review Green was added to SMARCD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SMAD2 Achchuthan Shanmugasundram Source Expert Review Green was added to SMAD2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SKIV2L Achchuthan Shanmugasundram Source Expert Review Green was added to SKIV2L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SIN3A Achchuthan Shanmugasundram Source Expert Review Green was added to SIN3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SHMT2 Achchuthan Shanmugasundram Source Expert Review Green was added to SHMT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SEMA3A Achchuthan Shanmugasundram Source Expert Review Green was added to SEMA3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SCN5A Achchuthan Shanmugasundram Source Expert Review Green was added to SCN5A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SCN3A Achchuthan Shanmugasundram Source Expert Review Green was added to SCN3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SCAF4 Achchuthan Shanmugasundram Source Expert Review Green was added to SCAF4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 RPL15 Achchuthan Shanmugasundram Source Expert Review Green was added to RPL15.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 RNU12 Achchuthan Shanmugasundram Source Expert Review Green was added to RNU12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 RNF125 Achchuthan Shanmugasundram Source Expert Review Green was added to RNF125.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 RNF113A Achchuthan Shanmugasundram Source Expert Review Green was added to RNF113A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 RLIM Achchuthan Shanmugasundram Source Expert Review Green was added to RLIM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 RBP4 Achchuthan Shanmugasundram Source Expert Review Green was added to RBP4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 RAD51 Achchuthan Shanmugasundram Source Expert Review Green was added to RAD51.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 RAD50 Achchuthan Shanmugasundram Source Expert Review Green was added to RAD50.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PXDN Achchuthan Shanmugasundram Source NHS GMS was added to PXDN.
Source Expert Review Green was added to PXDN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PTPN23 Achchuthan Shanmugasundram Source Expert Review Green was added to PTPN23.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PRR12 Achchuthan Shanmugasundram Source Expert Review Green was added to PRR12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PRF1 Achchuthan Shanmugasundram Source Expert Review Green was added to PRF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PPP3CA Achchuthan Shanmugasundram Source Expert Review Green was added to PPP3CA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PPP2R3C Achchuthan Shanmugasundram Source Expert Review Green was added to PPP2R3C.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PPP2CA Achchuthan Shanmugasundram Source Expert Review Green was added to PPP2CA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PPIL1 Achchuthan Shanmugasundram Source Expert Review Green was added to PPIL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PLPBP Achchuthan Shanmugasundram Source NHS GMS was added to PLPBP.
Source Expert Review Green was added to PLPBP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PLEC Achchuthan Shanmugasundram Source Expert Review Green was added to PLEC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PIGH Achchuthan Shanmugasundram Source Expert Review Green was added to PIGH.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PIDD1 Achchuthan Shanmugasundram Source Expert Review Green was added to PIDD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PHF21A Achchuthan Shanmugasundram Source Expert Review Green was added to PHF21A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PGAP1 Achchuthan Shanmugasundram Source NHS GMS was added to PGAP1.
Source Expert Review Green was added to PGAP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PDE3A Achchuthan Shanmugasundram Source Expert Review Green was added to PDE3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PCDH12 Achchuthan Shanmugasundram Source Expert Review Green was added to PCDH12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PAX1 Achchuthan Shanmugasundram Source Expert Review Green was added to PAX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PACS2 Achchuthan Shanmugasundram Source Expert Review Green was added to PACS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PACS1 Achchuthan Shanmugasundram Source Expert Review Green was added to PACS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 OTUD6B Achchuthan Shanmugasundram Source NHS GMS was added to OTUD6B.
Source Expert Review Green was added to OTUD6B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 NUP188 Achchuthan Shanmugasundram Source Expert Review Green was added to NUP188.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 NSRP1 Achchuthan Shanmugasundram Source Expert Review Green was added to NSRP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 NONO Achchuthan Shanmugasundram Source Expert Review Green was added to NONO.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 NFIB Achchuthan Shanmugasundram Source Expert Review Green was added to NFIB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 NFIA Achchuthan Shanmugasundram Source Expert Review Green was added to NFIA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 MYOD1 Achchuthan Shanmugasundram Source NHS GMS was added to MYOD1.
Source Expert Review Green was added to MYOD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 MPDZ Achchuthan Shanmugasundram Source Expert Review Green was added to MPDZ.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 MINPP1 Achchuthan Shanmugasundram Source Expert Review Green was added to MINPP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 MED27 Achchuthan Shanmugasundram Source Expert Review Green was added to MED27.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 MED25 Achchuthan Shanmugasundram Source Expert Review Green was added to MED25.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 MCIDAS Achchuthan Shanmugasundram Source Expert Review Green was added to MCIDAS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 MAPKAPK5 Achchuthan Shanmugasundram Source Expert Review Green was added to MAPKAPK5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 MAN2C1 Achchuthan Shanmugasundram Source Expert Review Green was added to MAN2C1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 MAB21L1 Achchuthan Shanmugasundram Source Expert Review Green was added to MAB21L1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 LTBP1 Achchuthan Shanmugasundram Source Expert Review Green was added to LTBP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 KIF4A Achchuthan Shanmugasundram Source Expert Review Green was added to KIF4A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 KIDINS220 Achchuthan Shanmugasundram Source Expert Review Green was added to KIDINS220.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 JAM3 Achchuthan Shanmugasundram Source NHS GMS was added to JAM3.
Source Expert Review Green was added to JAM3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 IRX5 Achchuthan Shanmugasundram Source NHS GMS was added to IRX5.
Source Expert Review Green was added to IRX5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 INTS1 Achchuthan Shanmugasundram Source Expert Review Green was added to INTS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 IFT74 Achchuthan Shanmugasundram Source Expert Review Green was added to IFT74.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 HYAL2 Achchuthan Shanmugasundram Source Expert Review Green was added to HYAL2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 HSPA9 Achchuthan Shanmugasundram Source Expert Review Green was added to HSPA9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 HS2ST1 Achchuthan Shanmugasundram Source Expert Review Green was added to HS2ST1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 HNRNPH2 Achchuthan Shanmugasundram Source NHS GMS was added to HNRNPH2.
Source Expert Review Green was added to HNRNPH2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 HMX1 Achchuthan Shanmugasundram Source NHS GMS was added to HMX1.
Source Expert Review Green was added to HMX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 HK1 Achchuthan Shanmugasundram Source Expert Review Green was added to HK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 HHAT Achchuthan Shanmugasundram Source Expert Review Green was added to HHAT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 H3F3A Achchuthan Shanmugasundram Source Expert Review Green was added to H3F3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 GTPBP2 Achchuthan Shanmugasundram Source Expert Review Green was added to GTPBP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 GRM7 Achchuthan Shanmugasundram Source Expert Review Green was added to GRM7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 GPX4 Achchuthan Shanmugasundram Source NHS GMS was added to GPX4.
Source Expert Review Green was added to GPX4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 GHR Achchuthan Shanmugasundram Source Expert Review Green was added to GHR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 GFRA1 Achchuthan Shanmugasundram Source NHS GMS was added to GFRA1.
Source Expert Review Green was added to GFRA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 GDF11 Achchuthan Shanmugasundram Source Expert Review Green was added to GDF11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 GATA1 Achchuthan Shanmugasundram Source NHS GMS was added to GATA1.
Source Expert Review Green was added to GATA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 FRA10AC1 Achchuthan Shanmugasundram Source Expert Review Green was added to FRA10AC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 FOXJ1 Achchuthan Shanmugasundram Source Expert Review Green was added to FOXJ1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 FBRSL1 Achchuthan Shanmugasundram Source Expert Review Green was added to FBRSL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 FAT1 Achchuthan Shanmugasundram Source Expert Review Green was added to FAT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 FAM149B1 Achchuthan Shanmugasundram Source Expert Review Green was added to FAM149B1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 EXOC7 Achchuthan Shanmugasundram Source Expert Review Green was added to EXOC7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ERGIC1 Achchuthan Shanmugasundram Source Expert Review Green was added to ERGIC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ERBB3 Achchuthan Shanmugasundram Source Expert Review Green was added to ERBB3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 EN1 Achchuthan Shanmugasundram Source NHS GMS was added to EN1.
Source Expert Review Green was added to EN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 EFEMP2 Achchuthan Shanmugasundram Source Expert Review Green was added to EFEMP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 EEF2 Achchuthan Shanmugasundram Source Expert Review Green was added to EEF2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 DYNC1I2 Achchuthan Shanmugasundram Source Expert Review Green was added to DYNC1I2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 DYNC1I1 Achchuthan Shanmugasundram Source Expert Review Green was added to DYNC1I1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 DPF2 Achchuthan Shanmugasundram Source Expert Review Green was added to DPF2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 DLL1 Achchuthan Shanmugasundram Source Expert Review Green was added to DLL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 DEPDC5 Achchuthan Shanmugasundram Source NHS GMS was added to DEPDC5.
Source Expert Review Green was added to DEPDC5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 DCC Achchuthan Shanmugasundram Source NHS GMS was added to DCC.
Source Expert Review Green was added to DCC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 CYBB Achchuthan Shanmugasundram Source Expert Review Green was added to CYBB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 CTNNA2 Achchuthan Shanmugasundram Source Expert Review Green was added to CTNNA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 COA7 Achchuthan Shanmugasundram Source Expert Review Green was added to COA7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 CLTC Achchuthan Shanmugasundram Source Expert Review Green was added to CLTC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 CFAP52 Achchuthan Shanmugasundram Source Expert Review Green was added to CFAP52.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 CFAP45 Achchuthan Shanmugasundram Source Expert Review Green was added to CFAP45.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 CEP85L Achchuthan Shanmugasundram Source Expert Review Green was added to CEP85L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 CELSR1 Achchuthan Shanmugasundram Source Expert Review Amber was added to CELSR1.
Source NHS GMS was added to CELSR1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v4.191 CCDC22 Achchuthan Shanmugasundram Source NHS GMS was added to CCDC22.
Source Expert Review Green was added to CCDC22.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 C2orf69 Achchuthan Shanmugasundram Source Expert Review Green was added to C2orf69.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 C12orf57 Achchuthan Shanmugasundram Source NHS GMS was added to C12orf57.
Source Expert Review Green was added to C12orf57.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 BRD4 Achchuthan Shanmugasundram Source Expert Review Green was added to BRD4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 BRCA1 Achchuthan Shanmugasundram Source Expert Review Green was added to BRCA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ATN1 Achchuthan Shanmugasundram Source Expert Review Green was added to ATN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ATAD1 Achchuthan Shanmugasundram Source Expert Review Green was added to ATAD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ARL3 Achchuthan Shanmugasundram Source Expert Review Green was added to ARL3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ARID2 Achchuthan Shanmugasundram Source Expert Review Green was added to ARID2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 APC2 Achchuthan Shanmugasundram Source Expert Review Green was added to APC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 AP4S1 Achchuthan Shanmugasundram Source NHS GMS was added to AP4S1.
Source Expert Review Green was added to AP4S1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 AP4B1 Achchuthan Shanmugasundram Source NHS GMS was added to AP4B1.
Source Expert Review Green was added to AP4B1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ANGPT2 Achchuthan Shanmugasundram Source Expert Review Green was added to ANGPT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ALPK3 Achchuthan Shanmugasundram Source Expert Review Green was added to ALPK3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ALG14 Achchuthan Shanmugasundram Source Expert Review Green was added to ALG14.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ALDH1A2 Achchuthan Shanmugasundram Source Expert Review Green was added to ALDH1A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 AFF3 Achchuthan Shanmugasundram Source Expert Review Green was added to AFF3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ADCY6 Achchuthan Shanmugasundram Source Expert Review Green was added to ADCY6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ACVRL1 Achchuthan Shanmugasundram Source Expert Review Green was added to ACVRL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v6.6 RNU4-2 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: RNU4-2.
Early onset or syndromic epilepsy v6.6 MAST3 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: MAST3.
Tag Q2_24_MOI was removed from gene: MAST3.
Tag Q2_24_NHS_review was removed from gene: MAST3.
Early onset or syndromic epilepsy v6.6 ANO4 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: ANO4.
Tag Q2_24_MOI was removed from gene: ANO4.
Early onset or syndromic epilepsy v6.6 PRICKLE1 Achchuthan Shanmugasundram Tag Q1_24_demote_amber was removed from gene: PRICKLE1.
Tag Q1_24_expert_review was removed from gene: PRICKLE1.
Early onset or syndromic epilepsy v6.6 ZNFX1 Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: ZNFX1.
Tag Q1_24_NHS_review was removed from gene: ZNFX1.
Early onset or syndromic epilepsy v6.6 KCNA3 Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: KCNA3.
Tag Q1_24_NHS_review was removed from gene: KCNA3.
Early onset or syndromic epilepsy v6.6 KCNA1 Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: KCNA1.
Tag Q1_24_NHS_review was removed from gene: KCNA1.
Early onset or syndromic epilepsy v6.6 HSD17B10 Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: HSD17B10.
Early onset or syndromic epilepsy v6.6 COL4A3BP Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: COL4A3BP.
Early onset or syndromic epilepsy v6.6 CAMSAP1 Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: CAMSAP1.
Early onset or syndromic epilepsy v6.6 ANK2 Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: ANK2.
Early onset or syndromic epilepsy v6.6 ZNFX1 Achchuthan Shanmugasundram reviewed gene: ZNFX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v6.6 RNU4-2 Achchuthan Shanmugasundram reviewed gene: RNU4-2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v6.6 PRICKLE1 Achchuthan Shanmugasundram reviewed gene: PRICKLE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v6.6 MAST3 Achchuthan Shanmugasundram reviewed gene: MAST3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v6.6 KCNA3 Achchuthan Shanmugasundram commented on gene: KCNA3: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v6.6 KCNA1 Achchuthan Shanmugasundram commented on gene: KCNA1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v6.6 HSD17B10 Achchuthan Shanmugasundram reviewed gene: HSD17B10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; 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)
Early onset or syndromic epilepsy v6.6 COL4A3BP Achchuthan Shanmugasundram reviewed gene: COL4A3BP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v6.6 CAMSAP1 Achchuthan Shanmugasundram commented on gene: CAMSAP1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v6.6 ANO4 Achchuthan Shanmugasundram reviewed gene: ANO4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v6.6 ANK2 Achchuthan Shanmugasundram commented on gene: ANK2: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v6.5 ZNFX1 Achchuthan Shanmugasundram Source NHS GMS was added to ZNFX1.
Source Expert Review Green was added to ZNFX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v6.5 RNU4-2 Achchuthan Shanmugasundram Source NHS GMS was added to RNU4-2.
Source Expert Review Green was added to RNU4-2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v6.5 PRICKLE1 Achchuthan Shanmugasundram Source Expert Review Amber was added to PRICKLE1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Early onset or syndromic epilepsy v6.5 MAST3 Achchuthan Shanmugasundram Source NHS GMS was added to MAST3.
Source Expert Review Green was added to MAST3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v6.5 KCNA3 Achchuthan Shanmugasundram Source NHS GMS was added to KCNA3.
Source Expert Review Green was added to KCNA3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v6.5 KCNA1 Achchuthan Shanmugasundram Source Expert Review Green was added to KCNA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v6.5 HSD17B10 Achchuthan Shanmugasundram Source NHS GMS was added to HSD17B10.
Source Expert Review Green was added to HSD17B10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v6.5 COL4A3BP Achchuthan Shanmugasundram Source NHS GMS was added to COL4A3BP.
Source Expert Review Green was added to COL4A3BP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v6.5 CAMSAP1 Achchuthan Shanmugasundram Source NHS GMS was added to CAMSAP1.
Source Expert Review Green was added to CAMSAP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v6.5 ANO4 Achchuthan Shanmugasundram Source NHS GMS was added to ANO4.
Source Expert Review Green was added to ANO4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v6.5 ANK2 Achchuthan Shanmugasundram Source NHS GMS was added to ANK2.
Source Expert Review Green was added to ANK2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Distal myopathies v5.2 CNBP_CCTG Achchuthan Shanmugasundram edited their review of STR: CNBP_CCTG: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Distal myopathies v5.2 CNBP_CCTG Achchuthan Shanmugasundram reviewed STR: CNBP_CCTG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Distal myopathies v5.2 CNBP_CCTG Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from STR: CNBP_CCTG.
Distal myopathies v5.2 CNBP_CCTG Achchuthan Shanmugasundram Classified STR: CNBP_CCTG as Green List (high evidence)
Distal myopathies v5.2 CNBP_CCTG Achchuthan Shanmugasundram Str: cnbp_cctg has been classified as Green List (High Evidence).
Cystic kidney disease v6.3 CLCN5 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: CLCN5.
Tag Q2_24_NHS_review was removed from gene: CLCN5.
Cystic kidney disease v6.3 CLCN5 Achchuthan Shanmugasundram reviewed gene: CLCN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; 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)
Cystic kidney disease v6.2 CLCN5 Achchuthan Shanmugasundram Source NHS GMS was added to CLCN5.
Source Expert Review Green was added to CLCN5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v4.42 CCDC78 Achchuthan Shanmugasundram Tag Q4_22_demote_amber was removed from gene: CCDC78.
Tag Q4_22_expert_review was removed from gene: CCDC78.
Congenital myopathy v4.42 UNC45B Achchuthan Shanmugasundram Tag Q4_22_promote_green was removed from gene: UNC45B.
Tag Q4_22_expert_review was removed from gene: UNC45B.
Tag Q4_22_NHS_review was removed from gene: UNC45B.
Congenital myopathy v4.42 MLIP Achchuthan Shanmugasundram Tag Q4_22_promote_green was removed from gene: MLIP.
Congenital myopathy v4.42 LETM1 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: LETM1.
Tag Q3_23_NHS_review was removed from gene: LETM1.
Tag Q3_23_MOI was removed from gene: LETM1.
Congenital myopathy v4.42 ZC4H2 Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: ZC4H2.
Tag Q2_23_NHS_review was removed from gene: ZC4H2.
Congenital myopathy v4.42 TRDN Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: TRDN.
Tag Q2_23_NHS_review was removed from gene: TRDN.
Congenital myopathy v4.42 TPM2 Achchuthan Shanmugasundram Tag watchlist_moi was removed from gene: TPM2.
Tag Q2_23_MOI was removed from gene: TPM2.
Tag Q2_23_NHS_review was removed from gene: TPM2.
Congenital myopathy v4.42 TNNT1 Achchuthan Shanmugasundram Tag Q2_23_MOI was removed from gene: TNNT1.
Tag Q2_23_NHS_review was removed from gene: TNNT1.
Congenital myopathy v4.42 MYH7 Achchuthan Shanmugasundram Tag Q4_22_MOI was removed from gene: MYH7.
Tag Q2_23_NHS_review was removed from gene: MYH7.
Congenital myopathy v4.42 MYH3 Achchuthan Shanmugasundram Tag Q2_23_MOI was removed from gene: MYH3.
Tag Q2_23_NHS_review was removed from gene: MYH3.
Congenital myopathy v4.42 SPTBN4 Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: SPTBN4.
Congenital myopathy v4.42 KY Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: KY.
Tag Q1_23_NHS_review was removed from gene: KY.
Congenital myopathy v4.42 GBE1 Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: GBE1.
Tag Q1_23_NHS_review was removed from gene: GBE1.
Congenital myopathy v4.42 DNAJB4 Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: DNAJB4.
Tag Q1_23_NHS_review was removed from gene: DNAJB4.
Congenital myopathy v4.42 COL25A1 Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: COL25A1.
Tag Q1_23_NHS_review was removed from gene: COL25A1.
Congenital myopathy v4.42 COL13A1 Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: COL13A1.
Tag Q1_23_NHS_review was removed from gene: COL13A1.
Congenital myopathy v4.42 ASCC1 Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: ASCC1.
Tag Q1_23_NHS_review was removed from gene: ASCC1.
Congenital myopathy v4.42 GFER Achchuthan Shanmugasundram reviewed gene: GFER: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v4.42 ZC4H2 Achchuthan Shanmugasundram edited their review of gene: ZC4H2: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Congenital myopathy v4.42 UNC45B Achchuthan Shanmugasundram reviewed gene: UNC45B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v4.42 TRDN Achchuthan Shanmugasundram commented on gene: TRDN: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Congenital myopathy v4.42 TPM2 Achchuthan Shanmugasundram commented on gene: TPM2: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Congenital myopathy v4.42 TNNT1 Achchuthan Shanmugasundram commented on gene: TNNT1: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Congenital myopathy v4.42 SPTBN4 Achchuthan Shanmugasundram reviewed gene: SPTBN4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v4.42 MYH7 Achchuthan Shanmugasundram reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myopathy v4.42 MYH3 Achchuthan Shanmugasundram commented on gene: MYH3: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Congenital myopathy v4.42 MLIP Achchuthan Shanmugasundram commented on gene: MLIP: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Congenital myopathy v4.42 LETM1 Achchuthan Shanmugasundram reviewed gene: LETM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v4.42 KY Achchuthan Shanmugasundram reviewed gene: KY: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v4.42 GBE1 Achchuthan Shanmugasundram commented on gene: GBE1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Congenital myopathy v4.42 DNAJB4 Achchuthan Shanmugasundram edited their review of gene: DNAJB4: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v4.42 COL25A1 Achchuthan Shanmugasundram edited their review of gene: COL25A1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v4.42 COL13A1 Achchuthan Shanmugasundram commented on gene: COL13A1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Congenital myopathy v4.42 CCDC78 Achchuthan Shanmugasundram edited their review of gene: CCDC78: Added comment: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital myopathy v4.42 ASCC1 Achchuthan Shanmugasundram commented on gene: ASCC1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Congenital myopathy v4.41 ZC4H2 Achchuthan Shanmugasundram Source Expert Review Green was added to ZC4H2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v4.41 UNC45B Achchuthan Shanmugasundram Source Expert Review Green was added to UNC45B.
Source NHS GMS was added to UNC45B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v4.41 TRDN Achchuthan Shanmugasundram Source Expert Review Green was added to TRDN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v4.41 TPM2 Achchuthan Shanmugasundram Mode of inheritance for gene TPM2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myopathy v4.41 TNNT1 Achchuthan Shanmugasundram Mode of inheritance for gene TNNT1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myopathy v4.41 SPTBN4 Achchuthan Shanmugasundram Source Expert Review Green was added to SPTBN4.
Source NHS GMS was added to SPTBN4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v4.41 MYH7 Achchuthan Shanmugasundram Mode of inheritance for gene MYH7 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myopathy v4.41 MYH3 Achchuthan Shanmugasundram Mode of inheritance for gene MYH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myopathy v4.41 MLIP Achchuthan Shanmugasundram Source Expert Review Green was added to MLIP.
Source NHS GMS was added to MLIP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v4.41 LETM1 Achchuthan Shanmugasundram Source Expert Review Green was added to LETM1.
Source NHS GMS was added to LETM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v4.41 KY Achchuthan Shanmugasundram Source Expert Review Green was added to KY.
Source NHS GMS was added to KY.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v4.41 GBE1 Achchuthan Shanmugasundram Source Expert Review Green was added to GBE1.
Source NHS GMS was added to GBE1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v4.41 DNAJB4 Achchuthan Shanmugasundram Source Expert Review Green was added to DNAJB4.
Source NHS GMS was added to DNAJB4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v4.41 COL25A1 Achchuthan Shanmugasundram Source Expert Review Green was added to COL25A1.
Source NHS GMS was added to COL25A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v4.41 COL13A1 Achchuthan Shanmugasundram Source Expert Review Green was added to COL13A1.
Source NHS GMS was added to COL13A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v4.41 CCDC78 Achchuthan Shanmugasundram Source Expert Review Amber was added to CCDC78.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Congenital myopathy v4.41 ASCC1 Achchuthan Shanmugasundram Source Expert Review Green was added to ASCC1.
Source NHS GMS was added to ASCC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Unexplained young onset end-stage renal disease - additional genes v0.67 PRDM15 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: PRDM15.
Unexplained young onset end-stage renal disease - additional genes v0.67 NOS1AP Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: NOS1AP.
Unexplained young onset end-stage renal disease - additional genes v0.67 PRDM15 Achchuthan Shanmugasundram commented on gene: PRDM15: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval for this change on R257 Unexplained young onset end-stage renal disease panel.
Unexplained young onset end-stage renal disease - additional genes v0.67 NOS1AP Achchuthan Shanmugasundram commented on gene: NOS1AP: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval for this change on R257 Unexplained young onset end-stage renal disease panel.
Unexplained young onset end-stage renal disease - additional genes v0.66 PRDM15 Achchuthan Shanmugasundram Source Expert Review Green was added to PRDM15.
Source NHS GMS was added to PRDM15.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Unexplained young onset end-stage renal disease - additional genes v0.66 NOS1AP Achchuthan Shanmugasundram Source Expert Review Green was added to NOS1AP.
Source NHS GMS was added to NOS1AP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Unexplained young onset end-stage renal disease - additional genes v0.65 ISCA-37401-Loss Achchuthan Shanmugasundram reviewed Region: ISCA-37401-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Unexplained young onset end-stage renal disease - additional genes v0.65 UPK3A Achchuthan Shanmugasundram reviewed gene: UPK3A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 UPK2 Achchuthan Shanmugasundram reviewed gene: UPK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Other
Unexplained young onset end-stage renal disease - additional genes v0.65 TSHZ3 Achchuthan Shanmugasundram reviewed gene: TSHZ3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 TNXB Achchuthan Shanmugasundram reviewed gene: TNXB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 SPRY1 Achchuthan Shanmugasundram reviewed gene: SPRY1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 SOX17 Achchuthan Shanmugasundram reviewed gene: SOX17: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 SMARCA4 Achchuthan Shanmugasundram reviewed gene: SMARCA4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 SLIT2 Achchuthan Shanmugasundram reviewed gene: SLIT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 SIX1 Achchuthan Shanmugasundram reviewed gene: SIX1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 SHH Achchuthan Shanmugasundram reviewed gene: SHH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 ROBO2 Achchuthan Shanmugasundram reviewed gene: ROBO2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 MYH11 Achchuthan Shanmugasundram reviewed gene: MYH11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease - additional genes v0.65 KIT Achchuthan Shanmugasundram reviewed gene: KIT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 HCN3 Achchuthan Shanmugasundram reviewed gene: HCN3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 GREM1 Achchuthan Shanmugasundram reviewed gene: GREM1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 GDNF Achchuthan Shanmugasundram reviewed gene: GDNF: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 FOXC2 Achchuthan Shanmugasundram reviewed gene: FOXC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 FOXC1 Achchuthan Shanmugasundram reviewed gene: FOXC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 DLG3 Achchuthan Shanmugasundram reviewed gene: DLG3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 DACT1 Achchuthan Shanmugasundram reviewed gene: DACT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 COX10 Achchuthan Shanmugasundram reviewed gene: COX10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 CHD1L Achchuthan Shanmugasundram reviewed gene: CHD1L: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 BMP4 Achchuthan Shanmugasundram reviewed gene: BMP4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 BICC1 Achchuthan Shanmugasundram reviewed gene: BICC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 ACTA2 Achchuthan Shanmugasundram reviewed gene: ACTA2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Unexplained young onset end-stage renal disease - additional genes v0.65 WDR72 Achchuthan Shanmugasundram commented on gene: WDR72: This gene has been added to this panel with green rating as it was present in R257 Unexplained young onset end-stage renal disease panel (v5.1) with the same rating before it was made a super panel.
Unexplained young onset end-stage renal disease - additional genes v0.65 TRAP1 Achchuthan Shanmugasundram reviewed gene: TRAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease - additional genes v0.65 TBX18 Achchuthan Shanmugasundram reviewed gene: TBX18: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 SIX5 Achchuthan Shanmugasundram reviewed gene: SIX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Unexplained young onset end-stage renal disease - additional genes v0.65 SALL1 Achchuthan Shanmugasundram reviewed gene: SALL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Unexplained young onset end-stage renal disease - additional genes v0.65 RRM2B Achchuthan Shanmugasundram reviewed gene: RRM2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease - additional genes v0.65 RMND1 Achchuthan Shanmugasundram commented on gene: RMND1: This gene has been added to this panel with green rating as it was present in R257 Unexplained young onset end-stage renal disease panel (v5.1) with the same rating before it was made a super panel.
Unexplained young onset end-stage renal disease - additional genes v0.65 RET Achchuthan Shanmugasundram edited their review of gene: RET: Added comment: This gene has been added to this panel with green rating as it was present in R257 Unexplained young onset end-stage renal disease panel (v5.1) with the same rating before it was made a super panel.; Changed rating: GREEN
Unexplained young onset end-stage renal disease - additional genes v0.65 PBX1 Achchuthan Shanmugasundram reviewed gene: PBX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 LRIG2 Achchuthan Shanmugasundram reviewed gene: LRIG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease - additional genes v0.65 KYNU Achchuthan Shanmugasundram reviewed gene: KYNU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease - additional genes v0.65 ITGA8 Achchuthan Shanmugasundram reviewed gene: ITGA8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease - additional genes v0.65 HPSE2 Achchuthan Shanmugasundram reviewed gene: HPSE2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease - additional genes v0.65 HAAO Achchuthan Shanmugasundram reviewed gene: HAAO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease - additional genes v0.65 GRIP1 Achchuthan Shanmugasundram reviewed gene: GRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease - additional genes v0.65 GLI3 Achchuthan Shanmugasundram reviewed gene: GLI3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Unexplained young onset end-stage renal disease - additional genes v0.65 GATA3 Achchuthan Shanmugasundram reviewed gene: GATA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Unexplained young onset end-stage renal disease - additional genes v0.65 FREM2 Achchuthan Shanmugasundram reviewed gene: FREM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease - additional genes v0.65 FREM1 Achchuthan Shanmugasundram reviewed gene: FREM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease - additional genes v0.65 FRAS1 Achchuthan Shanmugasundram reviewed gene: FRAS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease - additional genes v0.65 FAN1 Achchuthan Shanmugasundram reviewed gene: FAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease - additional genes v0.65 EYA1 Achchuthan Shanmugasundram reviewed gene: EYA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Unexplained young onset end-stage renal disease - additional genes v0.65 DSTYK Achchuthan Shanmugasundram reviewed gene: DSTYK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Unexplained young onset end-stage renal disease - additional genes v0.65 CHRM3 Achchuthan Shanmugasundram reviewed gene: CHRM3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease - additional genes v0.65 CHD7 Achchuthan Shanmugasundram reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Unexplained young onset end-stage renal disease - additional genes v0.65 C3 Achchuthan Shanmugasundram reviewed gene: C3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease - additional genes v0.65 BNC2 Achchuthan Shanmugasundram reviewed gene: BNC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Unexplained young onset end-stage renal disease - additional genes v0.65 ARMC9 Achchuthan Shanmugasundram reviewed gene: ARMC9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease - additional genes v0.65 ANOS1 Achchuthan Shanmugasundram reviewed gene: ANOS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Unexplained young onset end-stage renal disease - additional genes v0.65 AGTR1 Achchuthan Shanmugasundram reviewed gene: AGTR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease - additional genes v0.65 AGT Achchuthan Shanmugasundram reviewed gene: AGT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease - additional genes v0.65 ACTG2 Achchuthan Shanmugasundram reviewed gene: ACTG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Unexplained young onset end-stage renal disease - additional genes v0.65 ACE Achchuthan Shanmugasundram reviewed gene: ACE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease - additional genes v0.64 TBX18 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32
Unexplained young onset end-stage renal disease - additional genes v0.64 TBX18 Achchuthan Shanmugasundram gene: TBX18 was added
gene: TBX18 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green
Mode of inheritance for gene: TBX18 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX18 were set to Congenital anomalies of kidney and urinary tract 2 143400
Unexplained young onset end-stage renal disease - additional genes v0.63 SIX5 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32
Unexplained young onset end-stage renal disease - additional genes v0.63 SIX5 Achchuthan Shanmugasundram gene: SIX5 was added
gene: SIX5 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green
Mode of inheritance for gene: SIX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SIX5 were set to Branchiootorenal syndrome 2, 610896
Unexplained young onset end-stage renal disease - additional genes v0.62 SIX1 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32
Unexplained young onset end-stage renal disease - additional genes v0.62 SIX1 Achchuthan Shanmugasundram gene: SIX1 was added
gene: SIX1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red
Mode of inheritance for gene: SIX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SIX1 were set to Branchiootorenal Spectrum Disorders
Unexplained young onset end-stage renal disease - additional genes v0.61 SALL1 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32
Unexplained young onset end-stage renal disease - additional genes v0.61 SALL1 Achchuthan Shanmugasundram gene: SALL1 was added
gene: SALL1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green
Mode of inheritance for gene: SALL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SALL1 were set to imperforate anus, ear abnormalities, thumb abnormalities; Townes-Brocks branchiootorenal-like syndrome, 107480; Townes-Brocks syndrome, 107480
Unexplained young onset end-stage renal disease - additional genes v0.60 RRM2B Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32
Unexplained young onset end-stage renal disease - additional genes v0.60 RRM2B Achchuthan Shanmugasundram gene: RRM2B was added
gene: RRM2B was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green
Mode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RRM2B were set to Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic,renal tubulopathy), 612075; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075
Unexplained young onset end-stage renal disease - additional genes v0.59 ROBO2 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32
Unexplained young onset end-stage renal disease - additional genes v0.59 ROBO2 Achchuthan Shanmugasundram gene: ROBO2 was added
gene: ROBO2 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red
Mode of inheritance for gene: ROBO2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ROBO2 were set to Vesicoureteral Reflux; Vesicoureteral reflux 2, 610878
Unexplained young onset end-stage renal disease - additional genes v0.58 RET Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32
Unexplained young onset end-stage renal disease - additional genes v0.58 RET Achchuthan Shanmugasundram gene: RET was added
gene: RET was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RET were set to Multiple endocrine neoplasia IIB, 162300; Central hypoventilation syndrome, congenital, 209880; Multiple endocrine neoplasia IIA, 171400; Renal agenesis, 191830; {Hirschsprung disease, susceptibility to, 1}, 142623; Pheochromocytoma, 171300; Renal Adysplasia; Medullary thyroid carcinoma, 155240
Unexplained young onset end-stage renal disease - additional genes v0.57 MYH11 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32
Unexplained young onset end-stage renal disease - additional genes v0.57 MYH11 Achchuthan Shanmugasundram gene: MYH11 was added
gene: MYH11 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red
Mode of inheritance for gene: MYH11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYH11 were set to Megacystis-microcolon-intestinal hypoperistalsis syndrome
Unexplained young onset end-stage renal disease - additional genes v0.56 LRIG2 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32
Unexplained young onset end-stage renal disease - additional genes v0.56 LRIG2 Achchuthan Shanmugasundram gene: LRIG2 was added
gene: LRIG2 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green
Mode of inheritance for gene: LRIG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRIG2 were set to Stuart HM, Roberts NA, Bergu B, Daly SB, Urquhart JE, Bhaskar S, Dickerson J, Mermerkaya M, Silay MS, Lewis MA, Olondriz BO, Gener B, Beetz C, Varga RE, G lp nar O, S er E, Yal nkaya F, G c k A, Yue WW, Erdogan F, Berry A, Hanley NA, McKenzie EA, Hilton EN, Woolf AS, Newman WG. LRIG2 mutations cause urofacial syndrome. Am J Hum Genet 92:259-264, 2013.
Phenotypes for gene: LRIG2 were set to Urofacial syndrome; Urofacial syndrome 2 615112; Congenital bladder disease: dyssynergic, high pressure bladder.
Unexplained young onset end-stage renal disease - additional genes v0.55 KYNU Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32
Unexplained young onset end-stage renal disease - additional genes v0.55 KYNU Achchuthan Shanmugasundram gene: KYNU was added
gene: KYNU was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green
Mode of inheritance for gene: KYNU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KYNU were set to 27604308; 17334708; 28792876
Phenotypes for gene: KYNU were set to ?Hydroxykynureninuria, 236800; multiple congenital malformations; VACTERL-like phenotype; Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism)
Unexplained young onset end-stage renal disease - additional genes v0.54 ITGA8 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32
Unexplained young onset end-stage renal disease - additional genes v0.54 ITGA8 Achchuthan Shanmugasundram gene: ITGA8 was added
gene: ITGA8 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green
Mode of inheritance for gene: ITGA8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGA8 were set to Renal hypodysplasia/aplasia 1, 191830
Unexplained young onset end-stage renal disease - additional genes v0.53 HPSE2 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32
Unexplained young onset end-stage renal disease - additional genes v0.53 HPSE2 Achchuthan Shanmugasundram gene: HPSE2 was added
gene: HPSE2 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green
Mode of inheritance for gene: HPSE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPSE2 were set to 20560210; 20560209
Phenotypes for gene: HPSE2 were set to Congenital bladder disease: dyssynergic, high pressure bladder; Urofacial syndrome 1 236730; Urofacial Syndrome
Unexplained young onset end-stage renal disease - additional genes v0.52 HAAO Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32
Unexplained young onset end-stage renal disease - additional genes v0.52 HAAO Achchuthan Shanmugasundram gene: HAAO was added
gene: HAAO was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green
Mode of inheritance for gene: HAAO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAAO were set to 27604308; 17334708; 28792876
Phenotypes for gene: HAAO were set to VACTERL-like phenotype; Multiple congenital malformations
Unexplained young onset end-stage renal disease - additional genes v0.51 GRIP1 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32
Unexplained young onset end-stage renal disease - additional genes v0.51 GRIP1 Achchuthan Shanmugasundram gene: GRIP1 was added
gene: GRIP1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green
Mode of inheritance for gene: GRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRIP1 were set to 24700879; 14730302; 24357607; 22510445
Phenotypes for gene: GRIP1 were set to Fraser syndrome 219000; Fraser syndrome; isolated CAKUT
Unexplained young onset end-stage renal disease - additional genes v0.50 GLI3 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32
Unexplained young onset end-stage renal disease - additional genes v0.50 GLI3 Achchuthan Shanmugasundram gene: GLI3 was added
gene: GLI3 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green
Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GLI3 were set to Pallister-Hall syndrome, OMIM:146510
Unexplained young onset end-stage renal disease - additional genes v0.49 FREM2 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32
Unexplained young onset end-stage renal disease - additional genes v0.49 FREM2 Achchuthan Shanmugasundram gene: FREM2 was added
gene: FREM2 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green
Mode of inheritance for gene: FREM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FREM2 were set to Fraser syndrome 219000; Fraser syndrome
Unexplained young onset end-stage renal disease - additional genes v0.48 FREM1 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32
Unexplained young onset end-stage renal disease - additional genes v0.48 FREM1 Achchuthan Shanmugasundram gene: FREM1 was added
gene: FREM1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green
Mode of inheritance for gene: FREM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FREM1 were set to PMID: 24700879
Phenotypes for gene: FREM1 were set to Bifid nose with or without anorectal and renal anomalies, 608980
Unexplained young onset end-stage renal disease - additional genes v0.47 FRAS1 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32
Unexplained young onset end-stage renal disease - additional genes v0.47 FRAS1 Achchuthan Shanmugasundram gene: FRAS1 was added
gene: FRAS1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green
Mode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FRAS1 were set to Fraser syndrome 219000; Fraser syndrome
Unexplained young onset end-stage renal disease - additional genes v0.46 DSTYK Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32
Unexplained young onset end-stage renal disease - additional genes v0.46 DSTYK Achchuthan Shanmugasundram gene: DSTYK was added
gene: DSTYK was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green
Mode of inheritance for gene: DSTYK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DSTYK were set to Renal hypodysplasia; {Congenital anomalies of kidney and urinary tract, susceptibility to}; CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1; ureteropelvic junction obstruction; {Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805; vesicoureteric reflux
Unexplained young onset end-stage renal disease - additional genes v0.45 CHD7 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32
Unexplained young onset end-stage renal disease - additional genes v0.45 CHD7 Achchuthan Shanmugasundram gene: CHD7 was added
gene: CHD7 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green
Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CHD7 were set to CHARGE syndrome 214800
Unexplained young onset end-stage renal disease - additional genes v0.44 CHD1L Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32
Unexplained young onset end-stage renal disease - additional genes v0.44 CHD1L Achchuthan Shanmugasundram gene: CHD1L was added
gene: CHD1L was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red
Mode of inheritance for gene: CHD1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHD1L were set to 24429398; 22146311
Phenotypes for gene: CHD1L were set to ORPHA93545; Renal or urinary tract malformation (CAKUT)
Unexplained young onset end-stage renal disease - additional genes v0.43 ANOS1 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32
Unexplained young onset end-stage renal disease - additional genes v0.43 ANOS1 Achchuthan Shanmugasundram gene: ANOS1 was added
gene: ANOS1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green
Mode of inheritance for gene: ANOS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ANOS1 were set to 9719154; 11531922
Phenotypes for gene: ANOS1 were set to Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1); Kallman syndrome
Unexplained young onset end-stage renal disease - additional genes v0.42 AGTR1 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32
Unexplained young onset end-stage renal disease - additional genes v0.42 AGTR1 Achchuthan Shanmugasundram gene: AGTR1 was added
gene: AGTR1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green
Mode of inheritance for gene: AGTR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGTR1 were set to Renal Tubular Dysgenesis; Renal tubular dysgenesis, 267430; Hypertension, essential, 145500
Unexplained young onset end-stage renal disease - additional genes v0.41 AGT Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32
Unexplained young onset end-stage renal disease - additional genes v0.41 AGT Achchuthan Shanmugasundram gene: AGT was added
gene: AGT was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green
Mode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGT were set to Renal Tubular Dysgenesis; {Hypertension, essential, susceptibility to}, 145500{Preeclampsia, susceptibility to}Renal tubular dysgenesis, 267430; Renal tubular dysgenesis, 267430
Unexplained young onset end-stage renal disease - additional genes v0.40 ACTG2 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32
Unexplained young onset end-stage renal disease - additional genes v0.40 ACTG2 Achchuthan Shanmugasundram gene: ACTG2 was added
gene: ACTG2 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green
Mode of inheritance for gene: ACTG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTG2 were set to PMID: 25998219
Phenotypes for gene: ACTG2 were set to Berdon syndrome; visceral myopathy; Visceral myopathy (Megacystis-microcolon intestinal hypoperistalsis syndrome, Berdon syndrome) 155310; Megacystis-microcolon intestinal hypoperistalsis syndrome
Unexplained young onset end-stage renal disease - additional genes v0.39 ACTA2 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32
Unexplained young onset end-stage renal disease - additional genes v0.39 ACTA2 Achchuthan Shanmugasundram gene: ACTA2 was added
gene: ACTA2 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red
Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTA2 were set to Multi system smooth muscle dysfunction
Unexplained young onset end-stage renal disease v5.32 TBX18 Achchuthan Shanmugasundram Source Expert Review Green was added to TBX18.
Rating Changed from No List (delete) to Green List (high evidence)
Unexplained young onset end-stage renal disease v5.32 SIX5 Achchuthan Shanmugasundram Source Expert Review Green was added to SIX5.
Rating Changed from No List (delete) to Green List (high evidence)
Unexplained young onset end-stage renal disease v5.32 SIX1 Achchuthan Shanmugasundram Source Expert Review Red was added to SIX1.
Rating Changed from No List (delete) to Red List (low evidence)
Unexplained young onset end-stage renal disease v5.32 SALL1 Achchuthan Shanmugasundram Source Expert Review Green was added to SALL1.
Rating Changed from No List (delete) to Green List (high evidence)
Unexplained young onset end-stage renal disease v5.32 RRM2B Achchuthan Shanmugasundram Source Expert Review Green was added to RRM2B.
Rating Changed from No List (delete) to Green List (high evidence)
Unexplained young onset end-stage renal disease v5.32 ROBO2 Achchuthan Shanmugasundram Source Expert Review Red was added to ROBO2.
Rating Changed from No List (delete) to Red List (low evidence)
Unexplained young onset end-stage renal disease v5.32 RET Achchuthan Shanmugasundram Source NHS GMS was added to RET.
Source Expert Review Green was added to RET.
Rating Changed from No List (delete) to Green List (high evidence)
Unexplained young onset end-stage renal disease v5.32 MYH11 Achchuthan Shanmugasundram Source Expert Review Red was added to MYH11.
Rating Changed from No List (delete) to Red List (low evidence)
Unexplained young onset end-stage renal disease v5.32 LRIG2 Achchuthan Shanmugasundram Source Expert Review Green was added to LRIG2.
Rating Changed from No List (delete) to Green List (high evidence)
Unexplained young onset end-stage renal disease v5.32 KYNU Achchuthan Shanmugasundram Source Expert Review Green was added to KYNU.
Rating Changed from No List (delete) to Green List (high evidence)
Unexplained young onset end-stage renal disease v5.32 ITGA8 Achchuthan Shanmugasundram Source Expert Review Green was added to ITGA8.
Rating Changed from No List (delete) to Green List (high evidence)
Unexplained young onset end-stage renal disease v5.32 HPSE2 Achchuthan Shanmugasundram Source Expert Review Green was added to HPSE2.
Rating Changed from No List (delete) to Green List (high evidence)
Unexplained young onset end-stage renal disease v5.32 HAAO Achchuthan Shanmugasundram Source Expert Review Green was added to HAAO.
Rating Changed from No List (delete) to Green List (high evidence)
Unexplained young onset end-stage renal disease v5.32 GRIP1 Achchuthan Shanmugasundram Source Expert Review Green was added to GRIP1.
Rating Changed from No List (delete) to Green List (high evidence)
Unexplained young onset end-stage renal disease v5.32 GLI3 Achchuthan Shanmugasundram Source Expert Review Green was added to GLI3.
Rating Changed from No List (delete) to Green List (high evidence)
Unexplained young onset end-stage renal disease v5.32 FREM2 Achchuthan Shanmugasundram Source Expert Review Green was added to FREM2.
Rating Changed from No List (delete) to Green List (high evidence)
Unexplained young onset end-stage renal disease v5.32 FREM1 Achchuthan Shanmugasundram Source Expert Review Green was added to FREM1.
Rating Changed from No List (delete) to Green List (high evidence)
Unexplained young onset end-stage renal disease v5.32 FRAS1 Achchuthan Shanmugasundram Source Expert Review Green was added to FRAS1.
Rating Changed from No List (delete) to Green List (high evidence)
Unexplained young onset end-stage renal disease v5.32 DSTYK Achchuthan Shanmugasundram Source Expert Review Green was added to DSTYK.
Rating Changed from No List (delete) to Green List (high evidence)
Unexplained young onset end-stage renal disease v5.32 CHD7 Achchuthan Shanmugasundram Source Expert Review Green was added to CHD7.
Rating Changed from No List (delete) to Green List (high evidence)
Unexplained young onset end-stage renal disease v5.32 CHD1L Achchuthan Shanmugasundram Source Expert Review Red was added to CHD1L.
Rating Changed from No List (delete) to Red List (low evidence)
Unexplained young onset end-stage renal disease v5.32 ANOS1 Achchuthan Shanmugasundram Source Expert Review Green was added to ANOS1.
Rating Changed from No List (delete) to Green List (high evidence)
Unexplained young onset end-stage renal disease v5.32 AGTR1 Achchuthan Shanmugasundram Source Expert Review Green was added to AGTR1.
Rating Changed from No List (delete) to Green List (high evidence)
Unexplained young onset end-stage renal disease v5.32 AGT Achchuthan Shanmugasundram Source Expert Review Green was added to AGT.
Rating Changed from No List (delete) to Green List (high evidence)
Unexplained young onset end-stage renal disease v5.32 ACTG2 Achchuthan Shanmugasundram Source Expert Review Green was added to ACTG2.
Rating Changed from No List (delete) to Green List (high evidence)
Unexplained young onset end-stage renal disease v5.32 ACTA2 Achchuthan Shanmugasundram Source Expert Review Red was added to ACTA2.
Rating Changed from No List (delete) to Red List (low evidence)
Unexplained young onset end-stage renal disease v5.31 TBX18 Achchuthan Shanmugasundram All sources for gene: TBX18 were removed
Unexplained young onset end-stage renal disease v5.30 SIX5 Achchuthan Shanmugasundram All sources for gene: SIX5 were removed
Unexplained young onset end-stage renal disease v5.29 SIX1 Achchuthan Shanmugasundram All sources for gene: SIX1 were removed
Unexplained young onset end-stage renal disease v5.28 SALL1 Achchuthan Shanmugasundram All sources for gene: SALL1 were removed
Unexplained young onset end-stage renal disease v5.27 RRM2B Achchuthan Shanmugasundram All sources for gene: RRM2B were removed
Unexplained young onset end-stage renal disease v5.26 ROBO2 Achchuthan Shanmugasundram All sources for gene: ROBO2 were removed
Unexplained young onset end-stage renal disease v5.25 RET Achchuthan Shanmugasundram All sources for gene: RET were removed
Unexplained young onset end-stage renal disease v5.24 MYH11 Achchuthan Shanmugasundram All sources for gene: MYH11 were removed
Unexplained young onset end-stage renal disease v5.23 LRIG2 Achchuthan Shanmugasundram All sources for gene: LRIG2 were removed
Unexplained young onset end-stage renal disease v5.22 KYNU Achchuthan Shanmugasundram All sources for gene: KYNU were removed
Unexplained young onset end-stage renal disease v5.21 ITGA8 Achchuthan Shanmugasundram All sources for gene: ITGA8 were removed
Unexplained young onset end-stage renal disease v5.20 HPSE2 Achchuthan Shanmugasundram All sources for gene: HPSE2 were removed
Unexplained young onset end-stage renal disease v5.19 HAAO Achchuthan Shanmugasundram All sources for gene: HAAO were removed
Unexplained young onset end-stage renal disease v5.18 GRIP1 Achchuthan Shanmugasundram All sources for gene: GRIP1 were removed
Unexplained young onset end-stage renal disease v5.17 GLI3 Achchuthan Shanmugasundram All sources for gene: GLI3 were removed
Unexplained young onset end-stage renal disease v5.16 FREM2 Achchuthan Shanmugasundram All sources for gene: FREM2 were removed
Unexplained young onset end-stage renal disease v5.15 FREM1 Achchuthan Shanmugasundram All sources for gene: FREM1 were removed
Unexplained young onset end-stage renal disease v5.14 FRAS1 Achchuthan Shanmugasundram All sources for gene: FRAS1 were removed
Unexplained young onset end-stage renal disease v5.13 DSTYK Achchuthan Shanmugasundram All sources for gene: DSTYK were removed
Unexplained young onset end-stage renal disease v5.12 CHD7 Achchuthan Shanmugasundram All sources for gene: CHD7 were removed
Unexplained young onset end-stage renal disease v5.11 CHD1L Achchuthan Shanmugasundram All sources for gene: CHD1L were removed
Unexplained young onset end-stage renal disease v5.10 ANOS1 Achchuthan Shanmugasundram All sources for gene: ANOS1 were removed
Unexplained young onset end-stage renal disease v5.9 AGTR1 Achchuthan Shanmugasundram All sources for gene: AGTR1 were removed
Unexplained young onset end-stage renal disease v5.8 AGT Achchuthan Shanmugasundram All sources for gene: AGT were removed
Unexplained young onset end-stage renal disease v5.7 ACTG2 Achchuthan Shanmugasundram All sources for gene: ACTG2 were removed
Unexplained young onset end-stage renal disease v5.6 ACTA2 Achchuthan Shanmugasundram All sources for gene: ACTA2 were removed
Unexplained young onset end-stage renal disease - additional genes v0.38 WDR72 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.5
Unexplained young onset end-stage renal disease - additional genes v0.38 WDR72 Achchuthan Shanmugasundram gene: WDR72 was added
gene: WDR72 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green,NHS GMS,Expert Review
Mode of inheritance for gene: WDR72 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR72 were set to 30028003; 30779877; 31959358; 33033857
Phenotypes for gene: WDR72 were set to hereditary distal renal tubular acidosis; distal renal tubular acidosis, MONDO:0015827; Amelogenesis imperfecta, type IIA3, OMIM:613211; amelogenesis imperfecta hypomaturation type 2A3, MONDO:0013181
Unexplained young onset end-stage renal disease - additional genes v0.37 UPK3A Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.5
Unexplained young onset end-stage renal disease - additional genes v0.37 UPK3A Achchuthan Shanmugasundram gene: UPK3A was added
gene: UPK3A was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red
Mode of inheritance for gene: UPK3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: UPK3A were set to Renal Adysplasia
Unexplained young onset end-stage renal disease - additional genes v0.36 UPK2 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.5
Unexplained young onset end-stage renal disease - additional genes v0.36 UPK2 Achchuthan Shanmugasundram gene: UPK2 was added
gene: UPK2 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red
Mode of inheritance for gene: UPK2 was set to Other
Unexplained young onset end-stage renal disease v5.5 UPK2 Achchuthan Shanmugasundram Mode of inheritance for gene UPK2 was changed from Other - please specifiy in evaluation comments to Other
Unexplained young onset end-stage renal disease - additional genes v0.35 TSHZ3 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4
Unexplained young onset end-stage renal disease - additional genes v0.35 TSHZ3 Achchuthan Shanmugasundram gene: TSHZ3 was added
gene: TSHZ3 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red
Mode of inheritance for gene: TSHZ3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Unexplained young onset end-stage renal disease - additional genes v0.34 TRAP1 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4
Unexplained young onset end-stage renal disease - additional genes v0.34 TRAP1 Achchuthan Shanmugasundram gene: TRAP1 was added
gene: TRAP1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green
gene-checked tags were added to gene: TRAP1.
Mode of inheritance for gene: TRAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAP1 were set to 24152966
Phenotypes for gene: TRAP1 were set to CAKUT; VACTERL 192350
Unexplained young onset end-stage renal disease - additional genes v0.33 TNXB Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4
Unexplained young onset end-stage renal disease - additional genes v0.33 TNXB Achchuthan Shanmugasundram gene: TNXB was added
gene: TNXB was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red
Mode of inheritance for gene: TNXB was set to Unknown
Unexplained young onset end-stage renal disease - additional genes v0.32 SPRY1 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4
Unexplained young onset end-stage renal disease - additional genes v0.32 SPRY1 Achchuthan Shanmugasundram gene: SPRY1 was added
gene: SPRY1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red
Mode of inheritance for gene: SPRY1 was set to Unknown
Unexplained young onset end-stage renal disease - additional genes v0.31 SOX17 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4
Unexplained young onset end-stage renal disease - additional genes v0.31 SOX17 Achchuthan Shanmugasundram gene: SOX17 was added
gene: SOX17 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red
Mode of inheritance for gene: SOX17 was set to Unknown
Phenotypes for gene: SOX17 were set to Vesicoureteral reflux 3, 613674
Unexplained young onset end-stage renal disease - additional genes v0.30 SMARCA4 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4
Unexplained young onset end-stage renal disease - additional genes v0.30 SMARCA4 Achchuthan Shanmugasundram gene: SMARCA4 was added
gene: SMARCA4 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red
Mode of inheritance for gene: SMARCA4 was set to Unknown
Unexplained young onset end-stage renal disease - additional genes v0.29 SLIT2 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4
Unexplained young onset end-stage renal disease - additional genes v0.29 SLIT2 Achchuthan Shanmugasundram gene: SLIT2 was added
gene: SLIT2 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red
Mode of inheritance for gene: SLIT2 was set to Unknown
Unexplained young onset end-stage renal disease - additional genes v0.28 SHH Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4
Unexplained young onset end-stage renal disease - additional genes v0.28 SHH Achchuthan Shanmugasundram gene: SHH was added
gene: SHH was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red
Mode of inheritance for gene: SHH was set to Unknown
Unexplained young onset end-stage renal disease - additional genes v0.27 RMND1 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4
Unexplained young onset end-stage renal disease - additional genes v0.27 RMND1 Achchuthan Shanmugasundram gene: RMND1 was added
gene: RMND1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green,NHS GMS,Literature
Mode of inheritance for gene: RMND1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RMND1 were set to 31568715; 31889854; 32911714
Phenotypes for gene: RMND1 were set to Combined oxidative phosphorylation deficiency 11, OMIM:614922
Unexplained young onset end-stage renal disease - additional genes v0.26 PRDM15 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4
Unexplained young onset end-stage renal disease - additional genes v0.26 PRDM15 Achchuthan Shanmugasundram gene: PRDM15 was added
gene: PRDM15 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Amber,Literature
Q2_24_promote_green tags were added to gene: PRDM15.
Mode of inheritance for gene: PRDM15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDM15 were set to 31950080; 33593823
Phenotypes for gene: PRDM15 were set to steroid-resistant nephrotic syndrome, MONDO:0044765
Unexplained young onset end-stage renal disease - additional genes v0.25 PBX1 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4
Unexplained young onset end-stage renal disease - additional genes v0.25 PBX1 Achchuthan Shanmugasundram gene: PBX1 was added
gene: PBX1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green
Mode of inheritance for gene: PBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PBX1 were set to 28270404; 28566479
Phenotypes for gene: PBX1 were set to CAKUT
Unexplained young onset end-stage renal disease - additional genes v0.24 NOS1AP Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4
Unexplained young onset end-stage renal disease - additional genes v0.24 NOS1AP Achchuthan Shanmugasundram gene: NOS1AP was added
gene: NOS1AP was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Amber,Literature
Q1_24_promote_green tags were added to gene: NOS1AP.
Mode of inheritance for gene: NOS1AP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NOS1AP were set to 33523862
Phenotypes for gene: NOS1AP were set to Nephrotic syndrome, type 22, OMIM:619155
Unexplained young onset end-stage renal disease - additional genes v0.23 KIT Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4
Unexplained young onset end-stage renal disease - additional genes v0.23 KIT Achchuthan Shanmugasundram gene: KIT was added
gene: KIT was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red
Mode of inheritance for gene: KIT was set to Unknown
Unexplained young onset end-stage renal disease - additional genes v0.22 ISCA-37401-Loss Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4
Unexplained young onset end-stage renal disease - additional genes v0.22 ISCA-37401-Loss Achchuthan Shanmugasundram Region: ISCA-37401-Loss was added
Region: ISCA-37401-Loss was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green
Mode of inheritance for Region: ISCA-37401-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37401-Loss were set to 194072; Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome
Unexplained young onset end-stage renal disease - additional genes v0.21 HCN3 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4
Unexplained young onset end-stage renal disease - additional genes v0.21 HCN3 Achchuthan Shanmugasundram gene: HCN3 was added
gene: HCN3 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red
Mode of inheritance for gene: HCN3 was set to Unknown
Unexplained young onset end-stage renal disease - additional genes v0.20 GREM1 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4
Unexplained young onset end-stage renal disease - additional genes v0.20 GREM1 Achchuthan Shanmugasundram gene: GREM1 was added
gene: GREM1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red
Mode of inheritance for gene: GREM1 was set to Unknown
Unexplained young onset end-stage renal disease - additional genes v0.19 GDNF Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4
Unexplained young onset end-stage renal disease - additional genes v0.19 GDNF Achchuthan Shanmugasundram gene: GDNF was added
gene: GDNF was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red
Mode of inheritance for gene: GDNF was set to Unknown
Unexplained young onset end-stage renal disease - additional genes v0.18 GATA3 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4
Unexplained young onset end-stage renal disease - additional genes v0.18 GATA3 Achchuthan Shanmugasundram gene: GATA3 was added
gene: GATA3 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green
Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255; Hypoparathyroidism, Sensorineural Deafness, and Renal Disease
Unexplained young onset end-stage renal disease - additional genes v0.17 FOXC2 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4
Unexplained young onset end-stage renal disease - additional genes v0.17 FOXC2 Achchuthan Shanmugasundram gene: FOXC2 was added
gene: FOXC2 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red
Mode of inheritance for gene: FOXC2 was set to Unknown
Unexplained young onset end-stage renal disease - additional genes v0.16 FOXC1 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4
Unexplained young onset end-stage renal disease - additional genes v0.16 FOXC1 Achchuthan Shanmugasundram gene: FOXC1 was added
gene: FOXC1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red
Mode of inheritance for gene: FOXC1 was set to Unknown
Unexplained young onset end-stage renal disease - additional genes v0.15 FAN1 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4
Unexplained young onset end-stage renal disease - additional genes v0.15 FAN1 Achchuthan Shanmugasundram gene: FAN1 was added
gene: FAN1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: FAN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAN1 were set to 22772369; 35931300
Phenotypes for gene: FAN1 were set to interstitial nephritis; chronic kidney disease; Interstitial nephritis, karyomegalic, OMIM:614817; karyomegalic interstitial nephritis, MONDO:0013898
Unexplained young onset end-stage renal disease - additional genes v0.14 EYA1 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4
Unexplained young onset end-stage renal disease - additional genes v0.14 EYA1 Achchuthan Shanmugasundram gene: EYA1 was added
gene: EYA1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green
Mode of inheritance for gene: EYA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EYA1 were set to Branchiootorenal syndrome 1, with or without cataracts, 113650; Otofaciocervical syndrome, 166780; Branchiootic syndrome 1, 602588; Branchiootorenal syndrome 1, with or without cataracts; Branchiootorenal Spectrum Disorders; Anterior segment anomalies with or without cataract, 113650
Unexplained young onset end-stage renal disease - additional genes v0.13 DLG3 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4
Unexplained young onset end-stage renal disease - additional genes v0.13 DLG3 Achchuthan Shanmugasundram gene: DLG3 was added
gene: DLG3 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red
Mode of inheritance for gene: DLG3 was set to Unknown
Unexplained young onset end-stage renal disease - additional genes v0.12 DACT1 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4
Unexplained young onset end-stage renal disease - additional genes v0.12 DACT1 Achchuthan Shanmugasundram gene: DACT1 was added
gene: DACT1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red
Mode of inheritance for gene: DACT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DACT1 were set to 28054444; 19701191; 22610794
Phenotypes for gene: DACT1 were set to ?Townes-Brocks syndrome 2,617466; TBS2
Unexplained young onset end-stage renal disease - additional genes v0.11 COX10 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4
Unexplained young onset end-stage renal disease - additional genes v0.11 COX10 Achchuthan Shanmugasundram gene: COX10 was added
gene: COX10 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red
Mode of inheritance for gene: COX10 was set to Unknown
Phenotypes for gene: COX10 were set to Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046; Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due tocytochrome c oxidase deficiency
Unexplained young onset end-stage renal disease - additional genes v0.10 CHRM3 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4
Unexplained young onset end-stage renal disease - additional genes v0.10 CHRM3 Achchuthan Shanmugasundram gene: CHRM3 was added
gene: CHRM3 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CHRM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHRM3 were set to 10944224; 22077972; 31441039
Phenotypes for gene: CHRM3 were set to Prune belly syndrome, OMIM:100100; Megacystis; Urinary Bladder Disease
Unexplained young onset end-stage renal disease - additional genes v0.9 C3 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4
Unexplained young onset end-stage renal disease - additional genes v0.9 C3 Achchuthan Shanmugasundram gene: C3 was added
gene: C3 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green
Mode of inheritance for gene: C3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: C3 were set to 15781264; 18796626
Phenotypes for gene: C3 were set to C3 deficiency 613779 AR; {Hemolytic uremic syndrome, atypical, susceptibility to, 5} 612925 AD
Unexplained young onset end-stage renal disease - additional genes v0.8 BNC2 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4
Unexplained young onset end-stage renal disease - additional genes v0.8 BNC2 Achchuthan Shanmugasundram gene: BNC2 was added
gene: BNC2 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green,Other
Mode of inheritance for gene: BNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BNC2 were set to 31051115
Phenotypes for gene: BNC2 were set to Posterior urethral valves; PUV; Congenital lower urinary-tract obstruction; Lower urinary tract obstruction, congenital, 618612
Mode of pathogenicity for gene: BNC2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Unexplained young onset end-stage renal disease - additional genes v0.7 BMP4 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.3
Unexplained young onset end-stage renal disease - additional genes v0.7 BMP4 Achchuthan Shanmugasundram gene: BMP4 was added
gene: BMP4 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red
Mode of inheritance for gene: BMP4 was set to Unknown
Unexplained young onset end-stage renal disease - additional genes v0.6 BICC1 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.3
Unexplained young onset end-stage renal disease - additional genes v0.6 BICC1 Achchuthan Shanmugasundram gene: BICC1 was added
gene: BICC1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red
Mode of inheritance for gene: BICC1 was set to Unknown
Phenotypes for gene: BICC1 were set to {Renal dysplasia, cystic, susceptibility to}, 601331
Unexplained young onset end-stage renal disease - additional genes v0.5 ARMC9 Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.3
Unexplained young onset end-stage renal disease - additional genes v0.5 ARMC9 Achchuthan Shanmugasundram gene: ARMC9 was added
gene: ARMC9 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ARMC9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARMC9 were set to 28625504
Phenotypes for gene: ARMC9 were set to Joubert syndrome 30, 617622
Unexplained young onset end-stage renal disease - additional genes v0.4 ACE Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.3
Unexplained young onset end-stage renal disease - additional genes v0.4 ACE Achchuthan Shanmugasundram gene: ACE was added
gene: ACE was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green
Mode of inheritance for gene: ACE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACE were set to Renal Tubular Dysgenesis; {Myocardial infarction, susceptibility to}{Alzheimer disease, susceptibility to}, 104300{Microvascular complications of diabetes 3}, 612624[Angiotensin I-converting enzyme, benign serum increase]{SARS, progression of}Renal tubular; Renal Tubular Dysgenesis 267430
Unexplained young onset end-stage renal disease v5.3 ACE Achchuthan Shanmugasundram Source Expert Review Green was added to ACE.
Rating Changed from No List (delete) to Green List (high evidence)
Retinal disorders v6.5 MAN2B1 Siying Lin gene: MAN2B1 was added
gene: MAN2B1 was added to Retinal disorders. Sources: Literature
Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAN2B1 were set to PMID:29859105
Phenotypes for gene: MAN2B1 were set to Retinal dystrophy
Mode of pathogenicity for gene: MAN2B1 was set to Other
Review for gene: MAN2B1 was set to GREEN
Added comment: Retinal dystrophy can be a feature of the systemic alpha-mannosidosis phenotype, and can be the presenting feature in apparent non-syndromic retinal dystrophy (one individual in the Moorfields cohort)
Sources: Literature
Unexplained young onset end-stage renal disease v5.2 ACE Achchuthan Shanmugasundram All sources for gene: ACE were removed
DDG2P v4.8 RRAS Sarah Leigh commented on gene: RRAS
Adult onset neurodegenerative disorder v6.2 TUBA4A Sarah Leigh Tag Q3_24_NHS_review tag was added to gene: TUBA4A.
Hereditary ataxia with onset in adulthood v6.5 TUBA4A Sarah Leigh Tag Q3_24_promote_green tag was added to gene: TUBA4A.
Tag Q3_24_NHS_review tag was added to gene: TUBA4A.
Adult onset neurodegenerative disorder v6.2 TUBA4A Sarah Leigh Tag Q3_24_promote_green tag was added to gene: TUBA4A.
Adult onset neurodegenerative disorder v6.2 TUBA4A Sarah Leigh changed review comment from: At least seven TUBA4A variants have been associated with Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, (OMIM:616208)(PMID: 25374358; 37418012; 38884572). Spastic ataxia has been noted as an additional phenotypic feature in patients reported by PMID: 37418012;38884572. Furthermore, cultured fibroblasts from 3 patients with different TUBA4A missense variants, showed significant alterations in microtubule organization and dynamics (PMID: 38884572).; to: At least 15 TUBA4A variants have been associated with Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, (OMIM:616208)(PMID: 25374358; 37418012; 38884572). Spastic ataxia (in 4/13 unrelated cases) and nystagmus (in 5/13 unrelated cases) have been noted as additional phenotypic features in patients reported by PMID: 37418012; 38884572. Furthermore, functional studies show that missense TUBA4A variants significantly alter the microtubule organization and dynamics, diminishing its repolymerization capability (PMID: 25374358; 38884572).
Hereditary ataxia with onset in adulthood v6.5 TUBA4A Sarah Leigh changed review comment from: At least seven TUBA4A variants have been associated with Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, (OMIM:616208)(PMID: 25374358; 37418012; 38884572). Spastic ataxia has been noted as an additional phenotypic feature in patients reported by PMID: 37418012;38884572. Furthermore, cultured fibroblasts from 3 patients with different TUBA4A missense variants, showed significant alterations in microtubule organization and dynamics (PMID: 38884572).; to: At least 15 TUBA4A variants have been associated with Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, (OMIM:616208)(PMID: 25374358; 37418012; 38884572). Spastic ataxia (in 4/13 unrelated cases) and nystagmus (in 5/13 unrelated cases) have been noted as additional phenotypic features in patients reported by PMID: 37418012; 38884572. Furthermore, functional studies show that missense TUBA4A variants significantly alter the microtubule organization and dynamics, diminishing its repolymerization capability (PMID: 25374358; 38884572).
Amyotrophic lateral sclerosis/motor neuron disease v1.73 TUBA4A Sarah Leigh changed review comment from: At least seven TUBA4A variants have been associated with Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, (OMIM:616208)(PMID: 25374358; 37418012; 38884572). Spastic ataxia has been noted as an additional phenotypic feature in patients reported by PMID: 37418012;38884572. Furthermore, cultured fibroblasts from 3 patients with different TUBA4A missense variants, showed significant alterations in microtubule organization and dynamics (PMID: 38884572).; to: At least 15 TUBA4A variants have been associated with Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, (OMIM:616208)(PMID: 25374358; 37418012; 38884572). Spastic ataxia (in 4/13 unrelated cases) and nystagmus (in 5/13 unrelated cases) have been noted as additional phenotypic features in patients reported by PMID: 37418012; 38884572. Furthermore, functional studies show that missense TUBA4A variants significantly alter the microtubule organization and dynamics, diminishing its repolymerization capability (PMID: 25374358; 38884572).
Adult onset neurodegenerative disorder v6.2 TUBA4A Sarah Leigh reviewed gene: TUBA4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary ataxia with onset in adulthood v6.5 TUBA4A Sarah Leigh reviewed gene: TUBA4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Amyotrophic lateral sclerosis/motor neuron disease v1.73 TUBA4A Sarah Leigh reviewed gene: TUBA4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Amyotrophic lateral sclerosis/motor neuron disease v1.73 TUBA4A Sarah Leigh Publications for gene: TUBA4A were set to 25374358
Amyotrophic lateral sclerosis/motor neuron disease v1.72 TUBA4A Sarah Leigh Classified gene: TUBA4A as Green List (high evidence)
Amyotrophic lateral sclerosis/motor neuron disease v1.72 TUBA4A Sarah Leigh Gene: tuba4a has been classified as Green List (High Evidence).
Hereditary ataxia with onset in adulthood v6.5 TUBA4A Sarah Leigh Classified gene: TUBA4A as Amber List (moderate evidence)
Hereditary ataxia with onset in adulthood v6.5 TUBA4A Sarah Leigh Gene: tuba4a has been classified as Amber List (Moderate Evidence).
Amyotrophic lateral sclerosis/motor neuron disease v1.71 TUBA4A Sarah Leigh Phenotypes for gene: TUBA4A were changed from Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia to Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, OMIM:616208; amyotrophic lateral sclerosis type 22, MONDO:0014531
Adult onset neurodegenerative disorder v6.2 TUBA4A Sarah Leigh Phenotypes for gene: TUBA4A were changed from Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, OMIM:616208 to Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, OMIM:616208; amyotrophic lateral sclerosis type 22, MONDO:0014531
Hereditary ataxia with onset in adulthood v6.4 TUBA4A Sarah Leigh Phenotypes for gene: TUBA4A were changed from Ataxia; Spasticity; Nystagmus; Abnormal eye movements; Dysarthria; cognitive decline to Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, OMIM:616208; amyotrophic lateral sclerosis type 22, MONDO:0014531
Hereditary ataxia with onset in adulthood v6.3 TUBA4A Sarah Leigh Publications for gene: TUBA4A were set to 37418012; 38884572
Amyotrophic lateral sclerosis/motor neuron disease v1.70 TUBA4A Sarah Leigh Publications for gene: TUBA4A were set to https://doi.org/10.1016/j.neuron.2014.09.027
Hereditary ataxia with onset in adulthood v6.2 TUBA4A Sarah Leigh Publications for gene: TUBA4A were set to PMID: 37418012; 38884572
Primary ovarian insufficiency v1.68 TP63 Aleš Maver gene: TP63 was added
gene: TP63 was added to Primary ovarian insufficiency. Sources: Literature
Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TP63 were set to PMID: 36856110; 35801529; 30924587
Phenotypes for gene: TP63 were set to Premature ovarian insufficiency
Penetrance for gene: TP63 were set to unknown
Review for gene: TP63 was set to GREEN
gene: TP63 was marked as current diagnostic
Added comment: This gene is a well-established monogenic cause of POI:
https://www.omim.org/entry/620311
Sources: Literature
Intellectual disability v7.39 PRKACB Achchuthan Shanmugasundram changed review comment from: PMID:39095811 reported the identification of a de novo missense variant in PRKACB on ES re-analysis in an individual with intellectual disability, refractory focal epilepsy, spasticity, periventricular nodular heterotopia, a common atrium / AVSD, polydactyly and several tumours.; to: PMID:39095811 paper was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.

This paper reported the identification of a de novo missense variant in PRKACB on ES re-analysis in an individual with intellectual disability, refractory focal epilepsy, spasticity, periventricular nodular heterotopia, a common atrium / AVSD, polydactyly and several tumours.
Intellectual disability v7.39 PSMC5 Achchuthan Shanmugasundram changed review comment from: PMID:38776958 reported seven unrelated individuals with four different heterozygous variants (three missense and one nonsense) presenting with a neurodevelopmental disorder. Intellectual disability was present in all cases with being severe in two, moderate in three, borderline in one and severity not reported in one.

This gene has been associated with relevant phenotype in Gene2Phenotype ('moderate' rating on the DD panel), but not yet in OMIM.; to: PMID:38776958 paper was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.

This paper reported seven unrelated individuals with four different heterozygous variants (three missense and one nonsense) presenting with a neurodevelopmental disorder. Intellectual disability was present in all cases with being severe in two, moderate in three, borderline in one and severity not reported in one.

This gene has been associated with relevant phenotype in Gene2Phenotype ('moderate' rating on the DD panel), but not yet in OMIM.
Intellectual disability v7.39 LRRC7 Andrew Mumford gene: LRRC7 was added
gene: LRRC7 was added to Intellectual disability. Sources: Expert Review,Literature
Mode of inheritance for gene: LRRC7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LRRC7 were set to (PMID: 36928819):(PMID: 39256359)
Phenotypes for gene: LRRC7 were set to neurodevelopmental abnormality; intelelctual disability; autism; abnormal earting behaviours
Penetrance for gene: LRRC7 were set to Complete
Review for gene: LRRC7 was set to GREEN
Added comment: The association between monoallelic rare LoF variants in LRRC7 and disease class 'intellectual disability' in 100KGP participants was reported first in in 2023 (PMID 36928819).

Detailed phenotype descriptions of the nine pedigrees in the 100KGP discovery collection plus a further sixteen pedigrees in a multicentre european case collection were subsequently published in 2024 (33 affected cases in total; PMID 39256359). This paper confirms functional impact of observed variants on synaptic targeting of the encoded protein Densin-180 in a manner consistent with human phenotype.
Sources: Expert Review, Literature
Unexplained young onset end-stage renal disease - additional genes v0.3 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel
Unexplained young onset end-stage renal disease - additional genes v0.2 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; Component Of Super Panel
Unexplained young onset end-stage renal disease - additional genes v0.1 Achchuthan Shanmugasundram Panel types changed to Component Of Super Panel
Hereditary ataxia with onset in adulthood v6.1 TUBA4A Nour Elkhateeb gene: TUBA4A was added
gene: TUBA4A was added to Hereditary ataxia with onset in adulthood. Sources: Literature
Mode of inheritance for gene: TUBA4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBA4A were set to PMID: 37418012; 38884572
Phenotypes for gene: TUBA4A were set to Ataxia; Spasticity; Nystagmus; Abnormal eye movements; Dysarthria; cognitive decline
Penetrance for gene: TUBA4A were set to unknown
Review for gene: TUBA4A was set to GREEN
Added comment: Heterozygous missense TUBA4A variants (p.Pro173Ser, p.Pro173Arg, and p.Glu415Lys) recently reported to be associated with ataxia and spasticity in 24 individuals from 13 families in PMID: 37418012 and 38884572
Sources: Literature
Intellectual disability v7.39 CRELD1 Achchuthan Shanmugasundram Classified gene: CRELD1 as Amber List (moderate evidence)
Intellectual disability v7.39 CRELD1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (>10 unrelated cases) for the promotion of this gene to green rating in the next GMS update.
Intellectual disability v7.39 CRELD1 Achchuthan Shanmugasundram Gene: creld1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v7.38 CRELD1 Achchuthan Shanmugasundram Phenotypes for gene: CRELD1 were changed from Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771 to Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771
Intellectual disability v7.38 CRELD1 Achchuthan Shanmugasundram Phenotypes for gene: CRELD1 were changed from Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771 to Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771
Intellectual disability v7.38 CRELD1 Achchuthan Shanmugasundram Phenotypes for gene: CRELD1 were changed from Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771 to Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771
Intellectual disability v7.37 CRELD1 Achchuthan Shanmugasundram Phenotypes for gene: CRELD1 were changed from to Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771
Intellectual disability v7.37 CRELD1 Achchuthan Shanmugasundram Publications for gene: CRELD1 were set to PMID: 37947183
Intellectual disability v7.36 CRELD1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: CRELD1.
Intellectual disability v7.36 CRELD1 Achchuthan Shanmugasundram reviewed gene: CRELD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 37947183; Phenotypes: Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v6.5 COQ8B Siying Lin gene: COQ8B was added
gene: COQ8B was added to Retinal disorders. Sources: Literature
Mode of inheritance for gene: COQ8B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ8B were set to PMID 39226897
Phenotypes for gene: COQ8B were set to Retinal dystrophy
Mode of pathogenicity for gene: COQ8B was set to Other
Review for gene: COQ8B was set to GREEN
Added comment: Recent publication of 4 families with non-syndromic retinal dystrophy associated with biallelic COQ8B variants, with cell-based analysis of recombinant proteins deriving from these genotypes, showing a significant decrease in ligand-protein interaction compared to the wild type.
Sources: Literature
Intellectual disability v7.36 PRKACB Achchuthan Shanmugasundram Publications for gene: PRKACB were set to 33058759
Intellectual disability v7.36 PRKACB Achchuthan Shanmugasundram Mode of inheritance for gene: PRKACB was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v7.35 PRKACB Achchuthan Shanmugasundram changed review comment from: Comment on list classification: Three of five unrelated cases reported with PRKACB variants had intellectual disability, of which one had mild ID. Hence, it should still be rated amber. The 'watchlist' tag has been added to look out for new evidence in the future.; to: Comment on list classification: In total, three of five unrelated cases reported with PRKACB variants had intellectual disability, of which one had mild ID. Hence, it should still be rated amber. The 'watchlist' tag has been added to look out for new evidence in the future.
Intellectual disability v7.35 PRKACB Achchuthan Shanmugasundram edited their review of gene: PRKACB: Changed rating: AMBER
Intellectual disability v7.35 PRKACB Achchuthan Shanmugasundram Classified gene: PRKACB as Amber List (moderate evidence)
Intellectual disability v7.35 PRKACB Achchuthan Shanmugasundram Added comment: Comment on list classification: Three of five unrelated cases reported with PRKACB variants had intellectual disability, of which one had mild ID. Hence, it should still be rated amber. The 'watchlist' tag has been added to look out for new evidence in the future.
Intellectual disability v7.35 PRKACB Achchuthan Shanmugasundram Gene: prkacb has been classified as Amber List (Moderate Evidence).
Intellectual disability v7.34 PRKACB Achchuthan Shanmugasundram changed review comment from: PMID:39095811 reported the identification of a de novo missense variant in PRKACB on ES re-analysis in an individual with intellectual disability, refractory focal epilepsy, spasticity, periventricular nodular heterotopia, a common atrium / AVSD, polydactyly and several tumours.; to: PMID:39095811 reported the identification of a de novo missense variant in PRKACB on ES re-analysis in an individual with intellectual disability, refractory focal epilepsy, spasticity, periventricular nodular heterotopia, a common atrium / AVSD, polydactyly and several tumours.
Intellectual disability v7.34 PRKACB Achchuthan Shanmugasundram Tag watchlist tag was added to gene: PRKACB.
Intellectual disability v7.34 PRKACB Achchuthan Shanmugasundram changed review comment from: PMID:39095811 reported the identification of a de novo missense variant in PRKACB on ES re-analysis in an individual with intellectual disability, refractory focal epilepsy, spasticity, periventricular nodular heterotopia, a common atrium / AVSD, polydactyly and several tumours; to: PMID:39095811 reported the identification of a de novo missense variant in PRKACB on ES re-analysis in an individual with intellectual disability, refractory focal epilepsy, spasticity, periventricular nodular heterotopia, a common atrium / AVSD, polydactyly and several tumours.
Intellectual disability v7.34 PRKACB Achchuthan Shanmugasundram reviewed gene: PRKACB: Rating: GREEN; Mode of pathogenicity: None; Publications: 39095811; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v7.34 PSMC5 Achchuthan Shanmugasundram changed review comment from: PMID:38776958 reported seven unrelated individuals with four different heterozygous variants (three missense and one nonsense) presenting with a neurodevelopmental disorder. Intellectual disability was present in all cases with being severe in two, moderate in three, borderline in one and severity not reported in one).

This gene has been associated with relevant phenotype in Gene2Phenotype ('moderate' rating on the DD panel), but not yet in OMIM.; to: PMID:38776958 reported seven unrelated individuals with four different heterozygous variants (three missense and one nonsense) presenting with a neurodevelopmental disorder. Intellectual disability was present in all cases with being severe in two, moderate in three, borderline in one and severity not reported in one.

This gene has been associated with relevant phenotype in Gene2Phenotype ('moderate' rating on the DD panel), but not yet in OMIM.
Intellectual disability v7.34 PSMC5 Achchuthan Shanmugasundram Classified gene: PSMC5 as Amber List (moderate evidence)
Intellectual disability v7.34 PSMC5 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Intellectual disability v7.34 PSMC5 Achchuthan Shanmugasundram Gene: psmc5 has been classified as Amber List (Moderate Evidence).
Intellectual disability v7.33 PSMC5 Achchuthan Shanmugasundram changed review comment from: PMID:38776958 reported seven unrelated individuals with four different heterozygous variants (three missense and one nonsense) presenting with a neurodevelopmental disorder. Intellectual disability was present in all cases with being severe in two, moderate in three, borderline in one and not mentioned in one).

This gene has been associated with relevant phenotype in Gene2Phenotype ('moderate' rating on the DD panel), but not yet in OMIM.; to: PMID:38776958 reported seven unrelated individuals with four different heterozygous variants (three missense and one nonsense) presenting with a neurodevelopmental disorder. Intellectual disability was present in all cases with being severe in two, moderate in three, borderline in one and severity not reported in one).

This gene has been associated with relevant phenotype in Gene2Phenotype ('moderate' rating on the DD panel), but not yet in OMIM.
Intellectual disability v7.33 PSMC5 Achchuthan Shanmugasundram Phenotypes for gene: PSMC5 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v7.33 PSMC5 Achchuthan Shanmugasundram Phenotypes for gene: PSMC5 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v7.33 PSMC5 Achchuthan Shanmugasundram Phenotypes for gene: PSMC5 were changed from Developmental disorders to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v7.33 PSMC5 Achchuthan Shanmugasundram Publications for gene: PSMC5 were set to 33057194
Intellectual disability v7.32 PSMC5 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PSMC5.
Intellectual disability v7.32 PSMC5 Achchuthan Shanmugasundram reviewed gene: PSMC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 38776958; Phenotypes: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Respiratory ciliopathies including non-CF bronchiectasis v3.17 WFDC2 Achchuthan Shanmugasundram Classified gene: WFDC2 as Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v3.17 WFDC2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Steven Cowman, there is sufficient evidence available (10 unrelated families) for the association of this gene with green rating in the next GMS update.
Respiratory ciliopathies including non-CF bronchiectasis v3.17 WFDC2 Achchuthan Shanmugasundram Gene: wfdc2 has been classified as Amber List (Moderate Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v3.16 WFDC2 Achchuthan Shanmugasundram Phenotypes for gene: WFDC2 were changed from bronchiectasis; nasal polyposis to bronchiectasis, MONDO:0004822; Nasal polyposis, HP:0100582
Respiratory ciliopathies including non-CF bronchiectasis v3.15 WFDC2 Achchuthan Shanmugasundram Publications for gene: WFDC2 were set to PMID: 38626355
Respiratory ciliopathies including non-CF bronchiectasis v3.14 WFDC2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: WFDC2.
Tag Q3_24_NHS_review tag was added to gene: WFDC2.
Respiratory ciliopathies including non-CF bronchiectasis v3.14 WFDC2 Achchuthan Shanmugasundram reviewed gene: WFDC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38626355; Phenotypes: bronchiectasis, MONDO:0004822, Nasal polyposis, HP:0100582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intestinal failure or congenital diarrhoea v3.5 STX3 Achchuthan Shanmugasundram Phenotypes for gene: STX3 were changed from Microvillus inclusion disease, MONDO:0009635; diarrheal disorder, MONDO:0001673 to Diarrhea 12, with microvillus atrophy, OMIM:619445; Retinal dystrophy and microvillus inclusion disease, OMIM:619446
Intestinal failure or congenital diarrhoea v3.4 STX3 Achchuthan Shanmugasundram Publications for gene: STX3 were set to 24726755; 29266534; 25358429; 29282386
Intestinal failure or congenital diarrhoea v3.3 STX3 Achchuthan Shanmugasundram reviewed gene: STX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33974130; Phenotypes: Diarrhea 12, with microvillus atrophy, OMIM:619445, Retinal dystrophy and microvillus inclusion disease, OMIM:619446; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v6.5 STX3 Achchuthan Shanmugasundram Classified gene: STX3 as Amber List (moderate evidence)
Retinal disorders v6.5 STX3 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (six unrelated families and functional studies) for the promotion of this gene to green rating in the next GMS update.
Retinal disorders v6.5 STX3 Achchuthan Shanmugasundram Gene: stx3 has been classified as Amber List (Moderate Evidence).
Retinal disorders v6.4 STX3 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: STX3.
Retinal disorders v6.4 STX3 Achchuthan Shanmugasundram gene: STX3 was added
gene: STX3 was added to Retinal disorders. Sources: Literature
Mode of inheritance for gene: STX3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STX3 were set to 33974130
Phenotypes for gene: STX3 were set to Retinal dystrophy and microvillus inclusion disease, OMIM:619446
Review for gene: STX3 was set to GREEN
Added comment: PMID:33974130 assembled a cohort of ten individuals from eight families with microvillus inclusion disease (MVID), which included follow up of five previously reported individuals and five new individuals. All of them had homozygous loss-of-function nonsense variants in STX3 gene. Eight of them presented with a novel syndrome consisting of MVID and early-onset severe retinal dystrophy (EOSRD). All six different variants identified in individuals with MVID and EOSRD are located in exons shared between the STX3A and the STX3B transcripts, while the single variant (p.Arg247Ter) present in other two individuals with MVID only is located in exon 9A and it spares STX3B transcript.

Functional studies showed that STX3B transcript is highly expressed in human retina and that the protein is enriched in the inner and outer segments of photoreceptors and in ribbon synapses of the human retina. The study also showed that the inactivation of Stx3 in murine rod photoreceptors leads to a progressive degeneration of photoreceptors, corroborating a recently published study that used a different Stx3 knockout mouse line.

In summary, biallelic variants affecting both STX3A and STX3B transcripts cause MVID and EOSRD, while variants affecting only STX3A transcript cause MVID.

This gene has been associated with both phenotypes in OMIM (MIMs #619445 & #619446), but not yet in Gene2Phenotype.
Sources: Literature
Primary lymphoedema v3.11 TIE1 Miel Theunis reviewed gene: TIE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38820174; Phenotypes: lymphatic malformation-11 (LMPHM11, OMIM # 619401); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal hydrops v1.88 RASA1 Miel Theunis gene: RASA1 was added
gene: RASA1 was added to Fetal hydrops. Sources: Literature
Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RASA1 were set to 36980822; 33608416; 24038909
Phenotypes for gene: RASA1 were set to capillary malformation-arteriovenous malformation-1 (CMAVM1, OMIM # 608354)
Penetrance for gene: RASA1 were set to Incomplete
Mode of pathogenicity for gene: RASA1 was set to Other
Review for gene: RASA1 was set to GREEN
gene: RASA1 was marked as current diagnostic
Added comment: It has been clearly demonstrated that RASA1-related CM-AVM is caused by pLoF and missense variants as well as whole gene deletions and can incorporate lymphatic malformations and that these can present at the fetal stage with chylothorax, ascites, NIHF, and increased nuchal translucency.

I indicate a reduced penetrance, as the presence of this disorder can be missed entirely in affected parents due to a very variable expressivity. As such, caution is warranted when trio data is being filtered.
Sources: Literature
Optic neuropathy v4.33 BORCS8 Achchuthan Shanmugasundram Classified gene: BORCS8 as Amber List (moderate evidence)
Optic neuropathy v4.33 BORCS8 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (three unrelated families and functional studies) for the promotion of this gene to green rating in the next GMS update.
Optic neuropathy v4.33 BORCS8 Achchuthan Shanmugasundram Gene: borcs8 has been classified as Amber List (Moderate Evidence).
Optic neuropathy v4.32 BORCS8 Achchuthan Shanmugasundram Phenotypes for gene: BORCS8 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; hereditary optic neuropathy, MONDO:0020249
Optic neuropathy v4.31 BORCS8 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: BORCS8.
Optic neuropathy v4.31 BORCS8 Achchuthan Shanmugasundram edited their review of gene: BORCS8: Changed phenotypes to: neurodevelopmental disorder, MONDO:0700092, hereditary optic neuropathy, MONDO:0020249
Intellectual disability v7.32 BORCS8 Achchuthan Shanmugasundram Classified gene: BORCS8 as Amber List (moderate evidence)
Intellectual disability v7.32 BORCS8 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (3 unrelated families) for the promotion of this gene to green rating in the next GMS update.
Intellectual disability v7.32 BORCS8 Achchuthan Shanmugasundram Gene: borcs8 has been classified as Amber List (Moderate Evidence).
Intellectual disability v7.31 BORCS8 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: BORCS8.
Optic neuropathy v4.31 BORCS8 Achchuthan Shanmugasundram gene: BORCS8 was added
gene: BORCS8 was added to Optic neuropathy. Sources: Literature
Mode of inheritance for gene: BORCS8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BORCS8 were set to 38128568
Phenotypes for gene: BORCS8 were set to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Review for gene: BORCS8 was set to GREEN
Added comment: PMID:38128568 reported five patients from three unrelated families with homozygous or compound heterozygous loss of function missense and PTC variants in BORCS8 gene. All of them (5/5) presented with hypotonia, failure to thrive, global developmental delay, profound intellectual disability, muscle weakness and atrophy and dysmorphic features, while spasticity was present in 4/5 patients, and microcephaly, seizures and scoliosis were present in 3/5 patients. Optic atrophy was reported in all four patients assessed.

Zebrafish knockout of the orthologous brocs8 causes decreased brain and eye size, neuromuscular anomalies and impaired locomotion, recapitulating some of the key traits of the human phenotype. In addition, functional evidence from HEK293T cells were reported for both missense and PTC variants.

This gene has been associated with relevant phenotype in Gene2Phenotype ('moderate' rating on the DD panel), but not yet associated with any phenotypes in OMIM.
Sources: Literature
Intellectual disability v7.31 BORCS8 Achchuthan Shanmugasundram gene: BORCS8 was added
gene: BORCS8 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: BORCS8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BORCS8 were set to 38128568
Phenotypes for gene: BORCS8 were set to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Review for gene: BORCS8 was set to GREEN
Added comment: PMID:38128568 reported five patients from three unrelated families with homozygous or compound heterozygous loss of function missense and PTC variants in BORCS8 gene. All of them (5/5) presented with hypotonia, failure to thrive, global developmental delay, profound intellectual disability, muscle weakness and atrophy and dysmorphic features, while spasticity was present in 4/5 patients, and microcephaly, seizures and scoliosis were present in 3/5 patients. Optic atrophy was reported in all four patients assessed.

Zebrafish knockout of the orthologous brocs8 causes decreased brain and eye size, neuromuscular anomalies and impaired locomotion, recapitulating some of the key traits of the human phenotype. In addition, functional evidence from HEK293T cells were reported for both missense and PTC variants.

This gene has been associated with relevant phenotype in Gene2Phenotype ('moderate' rating on the DD panel), but not yet associated with any phenotypes in OMIM.
Sources: Literature
Intellectual disability v7.30 ZNRF3 Achchuthan Shanmugasundram Classified gene: ZNRF3 as Amber List (moderate evidence)
Intellectual disability v7.30 ZNRF3 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are only two patients reported with moderate intellectual disability and hence the evidence is currently not sufficient for green rating.
Intellectual disability v7.30 ZNRF3 Achchuthan Shanmugasundram Gene: znrf3 has been classified as Amber List (Moderate Evidence).
Paediatric disorders - additional genes v5.8 ZNRF3 Achchuthan Shanmugasundram Classified gene: ZNRF3 as Amber List (moderate evidence)
Paediatric disorders - additional genes v5.8 ZNRF3 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are eight individuals reported with complex neurodevelopmental disorder and four patients reported with congenital heart defects. There are only two patients with moderate intellectual disability and hence the evidence is not sufficient for this gene to be rated green on the intellectual disability panel. This gene is therefore being added to this panel for patients with variants in this gene to be picked by the Paediatric disorders WGS clinical indication.
Paediatric disorders - additional genes v5.8 ZNRF3 Achchuthan Shanmugasundram Gene: znrf3 has been classified as Amber List (Moderate Evidence).
Paediatric disorders - additional genes v5.7 ZNRF3 Achchuthan Shanmugasundram Phenotypes for gene: ZNRF3 were changed from complex neurodevelopmental disorder, MONDO:0100038; congenital heart disease, MONDO:0005453 to complex neurodevelopmental disorder, MONDO:0100038; congenital heart disease, MONDO:0005453
Paediatric disorders - additional genes v5.7 ZNRF3 Achchuthan Shanmugasundram Phenotypes for gene: ZNRF3 were changed from complex neurodevelopmental disorder, MONDO:0100038 to complex neurodevelopmental disorder, MONDO:0100038; congenital heart disease, MONDO:0005453
Paediatric disorders - additional genes v5.6 ZNRF3 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ZNRF3.
Paediatric disorders - additional genes v5.6 ZNRF3 Achchuthan Shanmugasundram edited their review of gene: ZNRF3: Changed phenotypes to: complex neurodevelopmental disorder, MONDO:0100038, congenital heart disease, MONDO:0005453
Paediatric disorders - additional genes v5.6 ZNRF3 Achchuthan Shanmugasundram edited their review of gene: ZNRF3: Changed rating: GREEN
Paediatric disorders - additional genes v5.6 ZNRF3 Achchuthan Shanmugasundram gene: ZNRF3 was added
gene: ZNRF3 was added to Paediatric disorders - additional genes. Sources: Literature
Mode of inheritance for gene: ZNRF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZNRF3 were set to 39168120
Phenotypes for gene: ZNRF3 were set to complex neurodevelopmental disorder, MONDO:0100038
Review for gene: ZNRF3 was set to AMBER
Added comment: PMID:39168120 reported 12 individuals from 11 families with heterozygous de novo variants in ZNRF3 gene (the variant was inherited only in the son of a father-son pair) and presented with various phenotypes.

Eight of these individuals harboured missense variants and displayed a complex neurodevelopmental disorder, of which missense variants clustered in the RING ligase domain are associated with macrocephalic NDD. In contrast, four individuals harbouring de novo truncating or de novo or inherited large in-frame deletion variants presented with non-NDD phenotypes, including heart, adrenal, or nephrotic problems. Overall, 4 individuals had congenital heart defects, 2 had moderate intellectual disability and 2 had microcephaly. There is also supporting functional evidence available from in vitro assays.

This gene has not yet been associated with any relevant phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature
Intellectual disability v7.29 ZNRF3 Achchuthan Shanmugasundram gene: ZNRF3 was added
gene: ZNRF3 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: ZNRF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZNRF3 were set to 39168120
Phenotypes for gene: ZNRF3 were set to complex neurodevelopmental disorder, MONDO:0100038
Review for gene: ZNRF3 was set to AMBER
Added comment: PMID:39168120 reported 12 individuals from 11 families with heterozygous de novo variants in ZNRF3 gene (the variant was inherited only in the son of a father-son pair) and presented with various phenotypes.

Eight of these individuals harboured missense variants and displayed a complex neurodevelopmental disorder, of which missense variants clustered in the RING ligase domain are associated with macrocephalic NDD. In contrast, four individuals harbouring de novo truncating or de novo or inherited large in-frame deletion variants presented with non-NDD phenotypes, including heart, adrenal, or nephrotic problems. Overall, 4 individuals had congenital heart defects, 2 had moderate intellectual disability and 2 had microcephaly. There is also supporting functional evidence available from in vitro assays.

This gene has not yet been associated with any relevant phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature
Renal ciliopathies v3.11 PSKH1 Achchuthan Shanmugasundram Deleted their comment
Renal ciliopathies v3.11 PSKH1 Achchuthan Shanmugasundram Classified gene: PSKH1 as Amber List (moderate evidence)
Renal ciliopathies v3.11 PSKH1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (four unrelated cases and functional studies) available for the promotion of this gene to green rating in the next GMS update.
Renal ciliopathies v3.11 PSKH1 Achchuthan Shanmugasundram Gene: pskh1 has been classified as Amber List (Moderate Evidence).
Renal ciliopathies v3.11 PSKH1 Achchuthan Shanmugasundram Classified gene: PSKH1 as Amber List (moderate evidence)
Renal ciliopathies v3.11 PSKH1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (four unrelated cases and functional studies) available for the promotion of this gene to green rating in the next GMS update.
Renal ciliopathies v3.11 PSKH1 Achchuthan Shanmugasundram Gene: pskh1 has been classified as Amber List (Moderate Evidence).
Renal ciliopathies v3.10 PSKH1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PSKH1.
Cholestasis v3.6 PSKH1 Achchuthan Shanmugasundram Classified gene: PSKH1 as Amber List (moderate evidence)
Cholestasis v3.6 PSKH1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (four unrelated cases and functional studies) available for the promotion of this gene to green rating in the next GMS update.
Cholestasis v3.6 PSKH1 Achchuthan Shanmugasundram Gene: pskh1 has been classified as Amber List (Moderate Evidence).
Cholestasis v3.5 PSKH1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PSKH1.
Renal ciliopathies v3.10 PSKH1 Achchuthan Shanmugasundram gene: PSKH1 was added
gene: PSKH1 was added to Renal ciliopathies. Sources: Literature
Mode of inheritance for gene: PSKH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSKH1 were set to 39132680
Phenotypes for gene: PSKH1 were set to hepatorenal syndrome, MONDO:0001382
Review for gene: PSKH1 was set to GREEN
Added comment: PMID:39132680 reported the identification of homozygous PSKH1 variants in four consanguineous families from a cohort of 279 families with intrahepatic cholestasis. Two of the four families (families 1 and 2) had the same homozygous founder variant (p.Arg121Trp), while different homozygous variants were reported in the other two families (family 3 - p.Ile126Val & family 4 - p.Arg183Cys).

The clinical presentations of the cases are as follows:
Family 1 - One patient died at 10 months of age with cholestasis/ liver impairment and kidney impairment.
Family 2 - Three cousins with cholestasis (two with liver failure needing transplant) and kidney features (two with kidney failure, 1 with renal echogenicity).
Family 3 - Two siblings with hepatic fibrosis (one with unilateral renal agenesis).
Family 4 - Two siblings with unexplained liver cirrhosis (one needing transplant) but normal kidney function.

Patient fibroblasts displayed abnormal cilia that are long and show abnormal transport. A homozygous Pskh1 mutant mouse faithfully recapitulated the human phenotype and displayed abnormally long cilia.

This gene has not yet been associated with any relevant phenotypes in OMIM or in Gene2Phenotype.
Sources: Literature
Cholestasis v3.5 PSKH1 Achchuthan Shanmugasundram gene: PSKH1 was added
gene: PSKH1 was added to Cholestasis. Sources: Literature
Mode of inheritance for gene: PSKH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSKH1 were set to 39132680
Phenotypes for gene: PSKH1 were set to hepatorenal syndrome, MONDO:0001382
Review for gene: PSKH1 was set to GREEN
Added comment: PMID:39132680 reported the identification of homozygous PSKH1 variants in four consanguineous families from a cohort of 279 families with intrahepatic cholestasis. Two of the four families (families 1 and 2) had the same homozygous founder variant (p.Arg121Trp), while different homozygous variants were reported in the other two families (family 3 - p.Ile126Val & family 4 - p.Arg183Cys).

The clinical presentations of the cases are as follows:
Family 1 - One patient died at 10 months of age with cholestasis/ liver impairment and kidney impairment.
Family 2 - Three cousins with cholestasis (two with liver failure needing transplant) and kidney features (two with kidney failure, 1 with renal echogenicity).
Family 3 - Two siblings with hepatic fibrosis (one with unilateral renal agenesis).
Family 4 - Two siblings with unexplained liver cirrhosis (one needing transplant) but normal kidney function.

Patient fibroblasts displayed abnormal cilia that are long and show abnormal transport. A homozygous Pskh1 mutant mouse faithfully recapitulated the human phenotype and displayed abnormally long cilia.

This gene has not yet been associated with any relevant phenotypes in OMIM or in Gene2Phenotype.
Sources: Literature
Retinal disorders v6.3 AHR Sarah Leigh Tag watchlist was removed from gene: AHR.
Tag Q3_24_promote_green tag was added to gene: AHR.
Tag Q3_24_NHS_review tag was added to gene: AHR.
Albinism or congenital nystagmus v3.7 AHR Sarah Leigh Publications for gene: AHR were set to 28851966; 31009037; 23301081
Albinism or congenital nystagmus v3.6 AHR Sarah Leigh reviewed gene: AHR: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Retinal disorders v6.3 AHR Sarah Leigh reviewed gene: AHR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v6.3 AHR Sarah Leigh Phenotypes for gene: AHR were changed from ?Retinitis pigmentosa 85, OMIM:618345; Retinal dystrophy to ?Retinitis pigmentosa 85, OMIM:618345; retinitis pigmentosa 85, MONDO:0032689
Albinism or congenital nystagmus v3.6 AHR Sarah Leigh Phenotypes for gene: AHR were changed from ?Retinitis pigmentosa 85, 618345; Foveal hypoplasia without albinism; Infantile nystagmus to ?Retinitis pigmentosa 85, OMIM:618345; retinitis pigmentosa 85, MONDO:0032689
Retinal disorders v6.2 AHR Sarah Leigh Publications for gene: AHR were set to 29726989; 31896775; 31009037
Likely inborn error of metabolism v6.8 SLC6A19 Sarah Leigh Publications for gene: SLC6A19 were set to 27604308; 20399395; 19335424
Nephrocalcinosis or nephrolithiasis v4.15 SLC6A19 Sarah Leigh changed review comment from: Comment on mode of inheritance: As reviewed by Tracy Lester, SLC6A19 is associated with Hartnup disorder (MIM #234500), which is caused by biallelic variants. SLC6A19 is currently associated with Hyperglycinuria (MIM #138500) and Iminoglycinuria (MIM #242600) in both PanelApp and PanelApp Australia and hence the MOI was set to both monoallelic and biallelic. However, these phenotypes are caused by SLC36A2. The association in PanelApp was due to the speculation in PMID:19033659 that combination of variants in SLC36A2 with variants in SLC6A20 or SLC6A19 may have contributed to these phenotypes in three of the reported families. The identified variant from SLC6A19 has now been classified as polymorphism because it was present in 62,195 of 282,492 alleles and in 7,227 homozygotes in the gnomAD database (v2.1.1), for an allele frequency of 0.2202 (https://www.omim.org/entry/608893?search=slc6a19&highlight=slc6a19#allelicVariants)nts). Hence, the MOI should be updated to 'BIALLELIC, autosomal or pseudoautosomal' in the next GMS update.
Achchuthan Shanmugasundram (Genomics England Curator), 11 Jun 2024; to: Comment on mode of inheritance: As reviewed by Tracy Lester, SLC6A19 is associated with Hartnup disorder (MIM #234500), which is caused by biallelic variants. SLC6A19 is currently associated with Hyperglycinuria (MIM #138500) and Iminoglycinuria (MIM #242600) in both PanelApp and PanelApp Australia and hence the MOI was set to both monoallelic and biallelic. However, these phenotypes are caused by SLC36A2. The association in PanelApp was due to the speculation in PMID:19033659 that combination of variants in SLC36A2 with variants in SLC6A20 or SLC6A19 may have contributed to these phenotypes in three of the reported families. The identified variant from SLC6A19 has now been classified as polymorphism because it was present in 62,195 of 282,492 alleles and in 7,227 homozygotes in the gnomAD database (v2.1.1), for an allele frequency of 0.2202 (https://www.omim.org/entry/608893?search=slc6a19&highlight=slc6a19#allelicVariants)nts). Hence, the MOI should be updated to 'BIALLELIC, autosomal or pseudoautosomal' in the next GMS update.
Achchuthan Shanmugasundram (Genomics England Curator), 11 Jun 2024
Nephrocalcinosis or nephrolithiasis v4.15 SLC6A19 Sarah Leigh Deleted their comment
Nephrocalcinosis or nephrolithiasis v4.15 SLC6A19 Sarah Leigh Publications for gene: SLC6A19 were set to
Nephrocalcinosis or nephrolithiasis v4.14 SLC6A19 Sarah Leigh commented on gene: SLC6A19: Comment on mode of inheritance: As reviewed by Tracy Lester, SLC6A19 is associated with Hartnup disorder (MIM #234500), which is caused by biallelic variants. SLC6A19 is currently associated with Hyperglycinuria (MIM #138500) and Iminoglycinuria (MIM #242600) in both PanelApp and PanelApp Australia and hence the MOI was set to both monoallelic and biallelic. However, these phenotypes are caused by SLC36A2. The association in PanelApp was due to the speculation in PMID:19033659 that combination of variants in SLC36A2 with variants in SLC6A20 or SLC6A19 may have contributed to these phenotypes in three of the reported families. The identified variant from SLC6A19 has now been classified as polymorphism because it was present in 62,195 of 282,492 alleles and in 7,227 homozygotes in the gnomAD database (v2.1.1), for an allele frequency of 0.2202 (https://www.omim.org/entry/608893?search=slc6a19&highlight=slc6a19#allelicVariants)nts). Hence, the MOI should be updated to 'BIALLELIC, autosomal or pseudoautosomal' in the next GMS update.
Nephrocalcinosis or nephrolithiasis v4.14 SLC6A19 Sarah Leigh Mode of inheritance for gene: SLC6A19 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Nephrocalcinosis or nephrolithiasis v4.13 SLC6A19 Sarah Leigh reviewed gene: SLC6A19: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v6.8 SAMD9 Achchuthan Shanmugasundram Classified gene: SAMD9 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v6.8 SAMD9 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Nour Elkhateeb, there is sufficient evidence available for the association of SAMD9 gene with immunodeficiency and auto-inflammation. Hence, this gene should be promoted to green rating in the next GMS update.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.8 SAMD9 Achchuthan Shanmugasundram Gene: samd9 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v6.7 SAMD9 Achchuthan Shanmugasundram Phenotypes for gene: SAMD9 were changed from ataxia-thrombocytopenia syndrome; 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); Bone marrow failure; Combined immunodeficiencies with associated or syndromic features to MIRAGE syndrome, OMIM:617053
Primary immunodeficiency or monogenic inflammatory bowel disease v6.6 SAMD9 Achchuthan Shanmugasundram Publications for gene: SAMD9 were set to 28487541; 29535429; 32048120; 29266745; 29175836; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v6.5 SAMD9 Achchuthan Shanmugasundram Mode of inheritance for gene: SAMD9 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v6.4 SAMD9 Achchuthan Shanmugasundram Tag Q3_24_NHS_review tag was added to gene: SAMD9.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.4 SAMD9 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SAMD9.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.4 SAMD9 Achchuthan Shanmugasundram changed review comment from: PMID:27182967 reported 11 patients from 10 unrelated families with a syndromic adrenal hypoplasia, which was named as MIRAGE syndrome (myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy, MIM #617053). These patients were identified with eight different monoallelic variants in SAMD9 gene and 10 patients were reported with recurrent invasive infections.

PMID:31620126 reported a patient presenting with prominent gastrointestinal tract involvement and immunodeficiency, but without any sign of adrenal insufficiency typical for MIRAGE syndrome. This patient was identified with a novel SAMD9 variant (p.Arg824Gln).

PMID:33423168 presented the evidence of immunodeficiency and auto-inflammation in 10 patients genetically diagnosed with MIRAGE syndrome.

This gene has been associated with relevant phenotypes in both OMIM (MIM #617053) and Gene2Phenotype ('definitive' rating on the DD panel); to: PMID:27182967 reported 11 patients from 10 unrelated families with a syndromic adrenal hypoplasia, which was named as MIRAGE syndrome (myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy, MIM #617053). These patients were identified with eight different monoallelic variants in SAMD9 gene and 10 patients were reported with recurrent invasive infections.

PMID:31620126 reported a patient presenting with prominent gastrointestinal tract involvement and immunodeficiency, but without any sign of adrenal insufficiency typical for MIRAGE syndrome. This patient was identified with a novel SAMD9 variant (p.Arg824Gln).

PMID:33423168 presented the evidence of immunodeficiency and auto-inflammation in 10 patients genetically diagnosed with MIRAGE syndrome.

This gene has been associated with relevant phenotypes in both OMIM (MIM #617053) and Gene2Phenotype ('definitive' rating on the DD panel).
Primary immunodeficiency or monogenic inflammatory bowel disease v6.4 SAMD9 Achchuthan Shanmugasundram reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: None; Publications: 27182967, 31620126, 33423168; Phenotypes: MIRAGE syndrome, OMIM:617053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.190 MYBBP1A Sarah Leigh Classified gene: MYBBP1A as Amber List (moderate evidence)
Fetal anomalies v4.190 MYBBP1A Sarah Leigh Added comment: Comment on list classification: There is enough information for this gene to be green on this panel.
Fetal anomalies v4.190 MYBBP1A Sarah Leigh Gene: mybbp1a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v4.189 MYBBP1A Sarah Leigh Tag Q3_24_NHS_review tag was added to gene: MYBBP1A.
Tag Q3_24_MOI tag was added to gene: MYBBP1A.
Fetal anomalies v4.189 MYBBP1A Sarah Leigh Tag Q3_24_promote_green tag was added to gene: MYBBP1A.
Fetal anomalies v4.189 MYBBP1A Sarah Leigh reviewed gene: MYBBP1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Non-immune hydrops fetalis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.189 MYBBP1A Sarah Leigh Classified gene: MYBBP1A as Amber List (moderate evidence)
Fetal anomalies v4.189 MYBBP1A Sarah Leigh Gene: mybbp1a has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v6.4 ITPR3 Dmitrijs Rots gene: ITPR3 was added
gene: ITPR3 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: ITPR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ITPR3 were set to PMID: 39270020
Phenotypes for gene: ITPR3 were set to Multisystemic
Mode of pathogenicity for gene: ITPR3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: ITPR3 was set to GREEN
Added comment: PMID: 39270020 Described 4 cases with the dame de novo variant and a complex phenotype including immunodeficiency + functional work. Enought for green rating
Sources: Literature
Childhood onset hereditary spastic paraplegia v6.1 RINT1 Dmitrijs Rots gene: RINT1 was added
gene: RINT1 was added to Childhood onset hereditary spastic paraplegia. Sources: Literature
Mode of inheritance for gene: RINT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RINT1 were set to PMID: 38990652
Phenotypes for gene: RINT1 were set to HSP
Review for gene: RINT1 was set to GREEN
Added comment: The PMID: 38990652 reports fourth case with HSP and bialellic RINT1 variants. They also note:
"The exon-intron boundaries around intron 11 may represent a mutational hotspot, given variation at c.1671+2 and c.1672-1 in all reported cases thus far."
Enough evidence for the green rating!
Sources: Literature
Arthrogryposis v7.2 MYH3 Dmitrijs Rots reviewed gene: MYH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 38856159; Phenotypes: arthrogryposis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis v3.14 WFDC2 Steven Cowman gene: WFDC2 was added
gene: WFDC2 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Literature
Mode of inheritance for gene: WFDC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WFDC2 were set to PMID: 38626355
Phenotypes for gene: WFDC2 were set to bronchiectasis; nasal polyposis
Review for gene: WFDC2 was set to GREEN
Added comment: Reported in 11 individuals from 10 different families, all of whom had nasal polyposis and nine with diffuse bronchiectasis, aged between 7 and 52 years. All those tested had impaired lung function (8/11) and Pseudomonas isolation (8/11). The bronchiectasis was noted to have an upper-lobe predominance in a manner similar to CF.

Low nasal NO levels were reported in all (9/11) tested individuals, although no disease causing variants were found in CFTR or PCD-related genes and mucociliary studies found clearance within the normal range, and EM in 8 individuals found normal ciliary ultrastructure. Sweat chloride was normal in all (9/11) tested individuals.

Seven pathogenic WFDC2 variants were found, with one missense variant (c.145T>C; p.Cys49Arg) found in 12/22 alleles from 8/11 individuals. Expression analysis of healthy controls found WFDC2 to be expressed in the respiratory epithelium. Glycosylated WFDC2 protein was detectable in the saliva of a healthy control and one heterozygous mother of an affected individual, but not three tested affected individuals. Structural analysis suggested the c.145T>C mutation disrupts N-linked glycosylation of WFDC2 and hence impairs secretion.
Sources: Literature
Early onset or syndromic epilepsy v6.4 RNU2-2P Eleanor Williams gene: RNU2-2P was added
gene: RNU2-2P was added to Early onset or syndromic epilepsy. Sources: Literature
Mode of inheritance for gene: RNU2-2P was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Review for gene: RNU2-2P was set to RED
Added comment: PRE-PRINT article https://doi.org/10.1101/2024.09.03.24312863

Greene et al 2024 - report 15 cases in which recurrent germline variants in RNU2-2P are found in patients with a severe neurodevelopmental disorder.

9 cases were from the 100,000 Genomes Project, all of which were annotated with Intellectual disability and displayed severe epilepsy usually from the first few months of life. Among these 9 two recurrent variants were found; n.4G>A and n.35A>G. Trio sequencing of 4/5 of the cases with n.4G>A and 3/4 of the cases with n.35A>G showed that the variants were de novo in all cases.

A variant with a different alternate allele at nucleotide 35, n.35A>T, was identified in
8 unaffected participants but further analysis suggests that this is a recurring somatic mosaic
variant.

A further 6 cases were identified in additional datasets of patients with neurodevelopmental abnormalities with de novo variants and no unaffected carriers of either variant; 4 cases had n.4G>A, 1 case had n.35A>G and 1 case had a different alternate allele, n.35A>C.

RNU2-2P is currently annotated as a pseudogene in Ensembl, but there is evidence that it is a transcribed gene from PMID.: 35288589
Sources: Literature
Intellectual disability v7.28 RNU2-2P Eleanor Williams gene: RNU2-2P was added
gene: RNU2-2P was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: RNU2-2P was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Review for gene: RNU2-2P was set to RED
Added comment: PRE-PRINT article https://doi.org/10.1101/2024.09.03.24312863

Greene et al 2024 - report 15 cases in which recurrent germline variants in RNU2-2P are found in patients with a severe neurodevelopmental disorder.

9 cases were from the 100,000 Genomes Project, all of which were annotated with Intellectual disability and displayed severe epilepsy usually from the first few months of life. Among these 9 two recurrent variants were found; n.4G>A and n.35A>G. Trio sequencing of 4/5 of the cases with n.4G>A and 3/4 of the cases with n.35A>G showed that the variants were de novo in all cases.

A variant with a different alternate allele at nucleotide 35, n.35A>T, was identified in
8 unaffected participants but further analysis suggests that this is a recurring somatic mosaic
variant.

A further 6 cases were identified in additional datasets of patients with neurodevelopmental abnormalities with de novo variants and no unaffected carriers of either variant; 4 cases had n.4G>A, 1 case had n.35A>G and 1 case had a different alternate allele, n.35A>C.

RNU2-2P is currently annotated as a pseudogene in Ensembl, but there is evidence that it is a transcribed gene from PMID.: 35288589
Sources: Literature
Skeletal dysplasia v6.5 NT5E Sarah Leigh Tag Q3_24_promote_green tag was added to gene: NT5E.
Tag Q3_24_NHS_review tag was added to gene: NT5E.
Likely inborn error of metabolism v6.7 NT5E Sarah Leigh Tag Q3_24_promote_green tag was added to gene: NT5E.
Tag Q3_24_NHS_review tag was added to gene: NT5E.
Likely inborn error of metabolism v6.7 NT5E Sarah Leigh edited their review of gene: NT5E: Added comment: NT5E variants have been associated with Calcification of joints and arteries (OMIM:211800), but not with a phenotype in Gen2Phen. At least nine biallelic NT5E variants have been identified in at least 6 unrelated cases of OMIM:211800 (PMID: 21288095; 26010187;28825389; 32522903; 34999808; 26178434; 27045881).; Changed rating: GREEN
Skeletal dysplasia v6.5 NT5E Sarah Leigh edited their review of gene: NT5E: Added comment: NT5E variants have been associated with Calcification of joints and arteries (OMIM:211800), but not with a phenotype in Gen2Phen. At least nine biallelic NT5E variants have been identified in at least 6 unrelated cases of OMIM:211800 (PMID: 21288095; 26010187;28825389; 32522903; 34999808; 26178434; 27045881).; Changed rating: GREEN
Likely inborn error of metabolism v6.7 NT5E Sarah Leigh Added comment: Comment on publications: PMID: 38199067 reports a cell line made including the variant NT5E c.1126A>G, p.T376A. However, PMID: 37754297 points out the ACMG classification for this variant would be Benign.
Likely inborn error of metabolism v6.7 NT5E Sarah Leigh Publications for gene: NT5E were set to 21288095; 26010187; 28825389; 32522903; 34999808; 26178434; 27045881
Likely inborn error of metabolism v6.6 NT5E Sarah Leigh Publications for gene: NT5E were set to 21288095; 26010187; 28825389; 32522903; 34999808; 38199067; 26178434; 27045881
Skeletal dysplasia v6.5 NT5E Sarah Leigh Added comment: Comment on publications: PMID: 38199067 reports a cell line made including the variant NT5E c.1126A>G, p.T376A. However, PMID: 37754297 points out the ACMG classification for this variant would be Benign.
Skeletal dysplasia v6.5 NT5E Sarah Leigh Publications for gene: NT5E were set to 21288095; 26010187; 28825389; 32522903; 34999808; 38199067; 26178434; 27045881
Likely inborn error of metabolism v6.5 NT5E Sarah Leigh Phenotypes for gene: NT5E were changed from arterial calcification; joint calcification to Calcification of joints and arteries, OMIM:211800; hereditary arterial and articular multiple calcification syndrome, MONDO:0008895
Skeletal dysplasia v6.4 NT5E Sarah Leigh Phenotypes for gene: NT5E were changed from arterial calcification; joint calcification to Calcification of joints and arteries, OMIM:211800; hereditary arterial and articular multiple calcification syndrome, MONDO:0008895
Likely inborn error of metabolism v6.4 NT5E Sarah Leigh Publications for gene: NT5E were set to 26010187; 28825389; 32522903; 34999808; 38199067; 26178434; 27045881
Skeletal dysplasia v6.3 NT5E Sarah Leigh Publications for gene: NT5E were set to 26010187; 28825389; 32522903; 34999808; 38199067; 26178434; 27045881
Likely inborn error of metabolism v6.3 NT5E Sarah Leigh Classified gene: NT5E as Amber List (moderate evidence)
Likely inborn error of metabolism v6.3 NT5E Sarah Leigh Gene: nt5e has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v6.2 NT5E Sarah Leigh Classified gene: NT5E as Amber List (moderate evidence)
Skeletal dysplasia v6.2 NT5E Sarah Leigh Gene: nt5e has been classified as Amber List (Moderate Evidence).
Intellectual disability v7.27 IPO8 Sarah Leigh reviewed gene: IPO8: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability v7.27 IPO8 Sarah Leigh Publications for gene: IPO8 were set to 34010604; 34010605
Intellectual disability v7.26 IPO8 Sarah Leigh Phenotypes for gene: IPO8 were changed from Intellectual disability to VISS syndrome, OMIM:619472; VISS syndrome, MONDO:0859177
Intellectual disability v7.25 IPO8 Sarah Leigh Publications for gene: IPO8 were set to PMID 34010604; 34010605
Intellectual disability v7.24 IPO8 Sarah Leigh Classified gene: IPO8 as Amber List (moderate evidence)
Intellectual disability v7.24 IPO8 Sarah Leigh Gene: ipo8 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v7.2 CIAO1 Sarah Leigh edited their review of gene: CIAO1: Added comment: CIAO1 has been rated as amber on this panel (Arthrogryposis) as the contractures reported in PMID: 38950322 are limited to Achilles tendon. If further evidence is published, a green rating will be recommended for CIAO1 on this panel.; Changed rating: AMBER
Arthrogryposis v7.2 CIAO1 Sarah Leigh Tag Q3_24_promote_green was removed from gene: CIAO1.
Tag Q3_24_NHS_review was removed from gene: CIAO1.
Arthrogryposis v7.2 CIAO1 Sarah Leigh Entity copied from Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.37
Arthrogryposis v7.2 CIAO1 Sarah Leigh gene: CIAO1 was added
gene: CIAO1 was added to Arthrogryposis. Sources: Expert Review Amber,Literature
Q3_24_promote_green, Q3_24_NHS_review tags were added to gene: CIAO1.
Mode of inheritance for gene: CIAO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CIAO1 were set to 38950322
Phenotypes for gene: CIAO1 were set to CIAO1 associated neuromuscular disorder
Congenital myaesthenic syndrome v4.8 CIAO1 Sarah Leigh Entity copied from Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.37
Congenital myaesthenic syndrome v4.8 CIAO1 Sarah Leigh gene: CIAO1 was added
gene: CIAO1 was added to Congenital myaesthenic syndrome. Sources: Expert Review Amber,Literature
Q3_24_promote_green, Q3_24_NHS_review tags were added to gene: CIAO1.
Mode of inheritance for gene: CIAO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CIAO1 were set to 38950322
Phenotypes for gene: CIAO1 were set to CIAO1 associated neuromuscular disorder
Congenital muscular dystrophy v4.26 CIAO1 Sarah Leigh Entity copied from Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.37
Congenital muscular dystrophy v4.26 CIAO1 Sarah Leigh gene: CIAO1 was added
gene: CIAO1 was added to Congenital muscular dystrophy. Sources: Expert Review Amber,Literature
Q3_24_promote_green, Q3_24_NHS_review tags were added to gene: CIAO1.
Mode of inheritance for gene: CIAO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CIAO1 were set to 38950322
Phenotypes for gene: CIAO1 were set to CIAO1 associated neuromuscular disorder
Congenital myopathy v4.40 CIAO1 Sarah Leigh Entity copied from Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.37
Congenital myopathy v4.40 CIAO1 Sarah Leigh gene: CIAO1 was added
gene: CIAO1 was added to Congenital myopathy. Sources: Expert Review Amber,Literature
Q3_24_promote_green, Q3_24_NHS_review tags were added to gene: CIAO1.
Mode of inheritance for gene: CIAO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CIAO1 were set to 38950322
Phenotypes for gene: CIAO1 were set to CIAO1 associated neuromuscular disorder
Intellectual disability v7.23 CTNND2 Arina Puzriakova Classified gene: CTNND2 as Amber List (moderate evidence)
Intellectual disability v7.23 CTNND2 Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Amber following discussion with the Genomics England clinical team.

There are multiple papers and cases in decipher of patients with intragenic deletions in CTNND2; however, almost all have mild or borderline ID (often isolated). Some variants are inherited from parents with mildly low/normal IQ. Deletion size is thought to correlate with severity of mental impairment.

Rationale for upgrading to Amber, is that smaller intragenic deletions in CTNND2 would not be picked up the region that encompasses this gene (ISCA-37390-Loss) as they fall below the 60% overlap threshold. However, mild ID is not within the scope of the panel and the only cases with SNVs have a slightly different phenotype (myoclonus, but they were missense and could be acting in a different mechanism).

This gene has recently been signed off for GMS use via the DDG2P panel (v4.8) meaning it will be applied to any patients referred under the R27 Paediatric disorders super panel.
Intellectual disability v7.23 CTNND2 Arina Puzriakova Gene: ctnnd2 has been classified as Amber List (Moderate Evidence).
Retinal disorders v6.1 RBP3 Dmitrijs Rots changed review comment from: Fresh evidence or IRD & high myopia in 37806543; to: Fresh evidence of IRD & high myopia in 37806543
Retinal disorders v6.1 RBP3 Dmitrijs Rots reviewed gene: RBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 37806543; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.8 CCNK Jana Jezkova reviewed gene: CCNK: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 37597256, 35063350, 30122539; Phenotypes: developmental delay, intellectual disability, facial dysmorphism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Likely inborn error of metabolism v6.2 PCSK9 Sarah Leigh Publications for gene: PCSK9 were set to 27604308; 12730697; 14727179; 15772090; 15654334; 16909389
Likely inborn error of metabolism v6.1 PCSK9 Sarah Leigh edited their review of gene: PCSK9: Added comment: Monoallelic mode of inheritance is appropriate for PCSK9, as there is only one published report of biallelic PCSK9 in a patient with familial hypercholesterolemia (FH) (PMID: 26541928). In this case, the patient did not exhibit the features of homozygous FH and her clinical features were similar to her heterozygous parents (personal communication from: Mafalda Bourbon, Department of Health Promotion & Prevention of Non-Transmissive Diseases, National Institute of Health Doutor Ricardo Jorge, Portugal).; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v4.188 MYBBP1A Sarah Graham gene: MYBBP1A was added
gene: MYBBP1A was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MYBBP1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYBBP1A were set to 39191491; 28425981
Review for gene: MYBBP1A was set to GREEN
Added comment: Three fetuses have been reported with biallelic variants in MYBBP1A in association with oligohydramnios, cystic hygroma, pleural effusion, generalized hydrops, ascites, severe IUGR and skeletal anomalies (PMID 39191491;28425981).
Sources: Literature
Fetal anomalies v4.188 AIMP1 Natalie Bibb edited their review of gene: AIMP1: Changed publications to: 30486714, 32531460, 24958424, 33402283, 26173967, 21092922, 30477741; Set current diagnostic: yes
Fetal anomalies v4.187 TTI2 Achchuthan Shanmugasundram Phenotypes for gene: TTI2 were changed from Mental retardation, autosomal recessive 39, OMIM:615541; Microcephaly; AUTOSOMAL RECESSIVE MENTAL RETARDATION to Mental retardation, autosomal recessive 39, OMIM:615541; Microcephaly
Fetal anomalies v4.186 TSHR Achchuthan Shanmugasundram Phenotypes for gene: TSHR were changed from HYPERTHYROIDISM, FAMILIAL GESTATIONAL; HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; Hyperthyroidism, nonautoimmune, OMIM:609152; Hypothyroidism, congenital, nongoitrous, 1, OMIM:275200 to Hyperthyroidism, nonautoimmune, OMIM:609152; Hypothyroidism, congenital, nongoitrous, 1, OMIM:275200
Fetal anomalies v4.185 SLC5A5 Achchuthan Shanmugasundram Publications for gene: SLC5A5 were set to
Fetal anomalies v4.184 SLC5A5 Achchuthan Shanmugasundram Phenotypes for gene: SLC5A5 were changed from THYROID HORMONOGENESIS DEFECT I to Thyroid dyshormonogenesis 1, OMIM:274400
Fetal anomalies v4.183 KCNQ1 Achchuthan Shanmugasundram Phenotypes for gene: KCNQ1 were changed from Long QT syndrome 1, OMIM:192500; JERVELL AND LANGE-NIELSEN SYNDROME TYPE 1 to Long QT syndrome 1, OMIM:192500
Fetal anomalies v4.182 ITPR1 Achchuthan Shanmugasundram Phenotypes for gene: ITPR1 were changed from SPINOCEREBELLAR ATAXIA TYPE15; SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE; Gillespie Syndrome to Spinocerebellar ataxia 29, congenital nonprogressive, OMIM:117360; Spinocerebellar ataxia 15, OMIM:606658; Gillespie syndrome, OMIM:206700
Fetal anomalies v4.181 FRMPD4 Achchuthan Shanmugasundram Phenotypes for gene: FRMPD4 were changed from Intellectual Disability; Intellectual Disability, X-linked 104, OMIM:300983 to Intellectual Disability, X-linked 104, OMIM:300983
Fetal anomalies v4.180 DEAF1 Achchuthan Shanmugasundram Phenotypes for gene: DEAF1 were changed from MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; Vulto-van Silfout-de Vries syndrome, OMIM:615828; Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures, OMIM:617171; Autism, intellectual disability, basal ganglia dysfunction and epilepsy to Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures, OMIM:617171; Vulto-van Silfout-de Vries syndrome, OMIM:615828
Fetal anomalies v4.179 DDX6 Achchuthan Shanmugasundram Phenotypes for gene: DDX6 were changed from INTELLECTUAL DISABILITY; Intellectual developmental disorder with impaired language and dysmorphic facies, OMIM:618653 to Intellectual developmental disorder with impaired language and dysmorphic facies, OMIM:618653
Fetal anomalies v4.178 COL25A1 Achchuthan Shanmugasundram Phenotypes for gene: COL25A1 were changed from FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5; Arthrogryposis multiplex congenita, MONDO:0015168 to Arthrogryposis multiplex congenita, MONDO:0015168
Fetal anomalies v4.177 CLMP Achchuthan Shanmugasundram Phenotypes for gene: CLMP were changed from CONGENITAL SHORT BOWEL SYNDROME; Congenital short bowel syndrome, OMIM:615237 to Congenital short bowel syndrome, OMIM:615237
Fetal anomalies v4.176 AUTS2 Achchuthan Shanmugasundram Phenotypes for gene: AUTS2 were changed from SYNDROMIC INTELLECTUAL DISABILITY to Intellectual developmental disorder, autosomal dominant 26, OMIM:615834
Fetal anomalies v4.175 ATP6V1B2 Achchuthan Shanmugasundram Phenotypes for gene: ATP6V1B2 were changed from ZIMMERMANN-LABAND SYNDROME; Deafness, congenital, with onychodystrophy, autosomal dominant, OMIM:124480; Zimmermann-Laband syndrome 2, OMIM:616455 to Zimmermann-Laband syndrome 2, OMIM:616455; Deafness, congenital, with onychodystrophy, autosomal dominant, OMIM:124480
Fetal anomalies v4.174 AIMP1 Achchuthan Shanmugasundram Phenotypes for gene: AIMP1 were changed from Leukodystrophy, hypomyelinating, 3, OMIM:260600; LEUKODYSTROPHY, HYPOMYELINATING, 3 to Leukodystrophy, hypomyelinating, 3, OMIM:260600
Fetal anomalies v4.173 ACSL4 Achchuthan Shanmugasundram Phenotypes for gene: ACSL4 were changed from Mental retardation, X-linked 63 , OMIM:300387; ALPORT SYNDROME WITH MENTAL RETARDATION MIDFACE HYPOPLASIA AND ELLIPTOCYTOSIS; MENTAL RETARDATION X-LINKED TYPE 63 to Mental retardation, X-linked 63 , OMIM:300387
Fetal anomalies v4.172 ZFPM2 Achchuthan Shanmugasundram Publications for gene: ZFPM2 were set to 24702427
Fetal anomalies v4.171 ZFPM2 Achchuthan Shanmugasundram Phenotypes for gene: ZFPM2 were changed from Diaphragmatic hernia 3, OMIM:610187 to Diaphragmatic hernia 3, OMIM:610187; Tetralogy of Fallot, OMIM:187500
Fetal anomalies v4.170 YAP1 Achchuthan Shanmugasundram Phenotypes for gene: YAP1 were changed from Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, OMIM:120433; COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION to Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, OMIM:120433
Fetal anomalies v4.169 UNC13D Achchuthan Shanmugasundram Publications for gene: UNC13D were set to 33249554
Fetal anomalies v4.168 UNC13D Achchuthan Shanmugasundram Phenotypes for gene: UNC13D were changed from Pancytopenia; ?Hydrops fetalis to Hemophagocytic lymphohistiocytosis, familial, 3, OMIM:608898
Fetal anomalies v4.167 TRIO Achchuthan Shanmugasundram Phenotypes for gene: TRIO were changed from INTELLECTUAL DISABILITY; Intellectual developmental disorder, autosomal dominant 44, with microcephaly, OMIM:617061 to Intellectual developmental disorder, autosomal dominant 44, with microcephaly, OMIM:617061
Fetal anomalies v4.166 TRAPPC11 Achchuthan Shanmugasundram Phenotypes for gene: TRAPPC11 were changed from MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S to Muscular dystrophy, limb-girdle, autosomal recessive 18, OMIM:615356
Fetal anomalies v4.165 TRAPPC11 Achchuthan Shanmugasundram Publications for gene: TRAPPC11 were set to
Fetal anomalies v4.164 TBX22 Achchuthan Shanmugasundram Phenotypes for gene: TBX22 were changed from Abruzzo-Erickson syndrome, OMIM:302905; Cleft palate with ankyloglossia, OMIM:303400; ?Abruzzo-Erickson syndrome, 302905; CLEFT PALATE, X-LINKED to Abruzzo-Erickson syndrome, OMIM:302905; Cleft palate with ankyloglossia, OMIM:303400
Fetal anomalies v4.163 SNAP29 Achchuthan Shanmugasundram Phenotypes for gene: SNAP29 were changed from Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, OMIM:609528; CEDNIK syndrome, MONDO:0012290 to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, OMIM:609528; CEDNIK syndrome, MONDO:0012290
Fetal anomalies v4.162 SNAP29 Achchuthan Shanmugasundram Publications for gene: SNAP29 were set to 15968592; 21073448; 28388629
Fetal anomalies v4.161 SLC4A1 Achchuthan Shanmugasundram Phenotypes for gene: SLC4A1 were changed from RENAL TUBULAR ACIDOSIS, DISTAL, AD; RENAL TUBULAR ACIDOSIS, DISTAL, AR; Ovalocytosis, SA type, OMIM:166900 to Ovalocytosis, SA type, OMIM:166900
Fetal anomalies v4.160 SLC25A26 Achchuthan Shanmugasundram Phenotypes for gene: SLC25A26 were changed from INTRA-MITOCHONDRIAL METHYLATION DEFICIENCY; Combined oxidative phosphorylation deficiency 28, OMIM:616794 to Combined oxidative phosphorylation deficiency 28, OMIM:616794
Fetal anomalies v4.159 RIN2 Achchuthan Shanmugasundram Publications for gene: RIN2 were set to
Fetal anomalies v4.158 RIN2 Achchuthan Shanmugasundram Phenotypes for gene: RIN2 were changed from MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS to Macrocephaly, alopecia, cutis laxa, and scoliosis, OMIM:613075
Fetal anomalies v4.157 RAD51C Achchuthan Shanmugasundram Phenotypes for gene: RAD51C were changed from FANCONI ANEMIA, COMPLEMENTATION GROUP 0 to Fanconi anemia, complementation group O, OMIM:613390
Fetal anomalies v4.156 RAD51C Achchuthan Shanmugasundram Publications for gene: RAD51C were set to
Fetal anomalies v4.155 RAB11B Achchuthan Shanmugasundram Phenotypes for gene: RAB11B were changed from INTELLECTUAL DISABILITY; Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807 to Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807
Fetal anomalies v4.154 QARS Achchuthan Shanmugasundram Phenotypes for gene: QARS were changed from MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY to Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, OMIM:615760
Fetal anomalies v4.153 QARS Achchuthan Shanmugasundram Publications for gene: QARS were set to
Fetal anomalies v4.152 POLD1 Achchuthan Shanmugasundram Phenotypes for gene: POLD1 were changed from Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381; SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381
Fetal anomalies v4.151 PLOD3 Achchuthan Shanmugasundram Publications for gene: PLOD3 were set to 18834968; 33743358
Fetal anomalies v4.150 PLAA Achchuthan Shanmugasundram Phenotypes for gene: PLAA were changed from Lethal Infantile Epileptic Encephalopathy to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, OMIM:617527
Fetal anomalies v4.149 PLAA Achchuthan Shanmugasundram Publications for gene: PLAA were set to
Fetal anomalies v4.148 NOVA2 Achchuthan Shanmugasundram Phenotypes for gene: NOVA2 were changed from Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, OMIM:618859; Intellectual disability with ataxia/spasticity to Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, OMIM:618859
Fetal anomalies v4.147 NAA15 Achchuthan Shanmugasundram Phenotypes for gene: NAA15 were changed from CONGENITAL HEART DISEASE and NEURODEVELOPMENTAL DISORDER; Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities, OMIM:617787 to Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities, OMIM:617787
Fetal anomalies v4.146 MYBPC3 Achchuthan Shanmugasundram Phenotypes for gene: MYBPC3 were changed from ?Congenital myopathy; Cardiomyopathy; Cardiomyopathy, hypertrophic, 4, OMIM:115197 to Cardiomyopathy, hypertrophic, 4, OMIM:115197
Fetal anomalies v4.145 MPZ Achchuthan Shanmugasundram Phenotypes for gene: MPZ were changed from Charcot-Marie-Tooth disease, type 2I 607677; Roussy-Levy syndrome 180800; Dejerine-Sottas disease 145900; Charcot-Marie-Tooth disease, dominant intermediate D 607791; Charcot-Marie-Tooth disease, type 1B 118200; Neuropathy, congenital hypomyelinating 605253; Hypomyelinating neuropathy, congenital, 2, OMIM:618184; Charcot-Marie-Tooth disease, type 2J 607736 to Hypomyelinating neuropathy, congenital, 2, OMIM:618184
Fetal anomalies v4.144 MITF Achchuthan Shanmugasundram Phenotypes for gene: MITF were changed from WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM; Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness; WAARDENBURG SYNDROME TYPE 2A; TIETZ SYNDROME; COMMAD syndrome, 617306; Tietz albinism-deafness syndrome, 103500; Waardenburg syndrome, type 2A, 193510; Waardenburg syndrome/ocular albinism, digenic, 103470 to COMMAD syndrome, OMIM:617306
Fetal anomalies v4.143 MITF Achchuthan Shanmugasundram Publications for gene: MITF were set to 27889061
Fetal anomalies v4.142 MGAT2 Achchuthan Shanmugasundram Phenotypes for gene: MGAT2 were changed from Congenital disorder of glycosylation, type Iia, OMIM:212066 to Congenital disorder of glycosylation, type IIa, OMIM:212066
Fetal anomalies v4.141 MGAT2 Achchuthan Shanmugasundram Phenotypes for gene: MGAT2 were changed from Congenital disorder of glycosylation, type Iia, OMIM:212066; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2A to Congenital disorder of glycosylation, type Iia, OMIM:212066
Fetal anomalies v4.140 MED17 Achchuthan Shanmugasundram Phenotypes for gene: MED17 were changed from MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY to Microcephaly, postnatal progressive, with seizures and brain atrophy, OMIM:613668
Fetal anomalies v4.139 MED17 Achchuthan Shanmugasundram Publications for gene: MED17 were set to
Fetal anomalies v4.138 MAMLD1 Achchuthan Shanmugasundram Phenotypes for gene: MAMLD1 were changed from X-LINKED HYPOSPADIAS TYPE 2 to Hypospadias 2, OMIM:300758
Fetal anomalies v4.137 MAMLD1 Achchuthan Shanmugasundram Publications for gene: MAMLD1 were set to
Fetal anomalies v4.136 KDM1A Achchuthan Shanmugasundram Phenotypes for gene: KDM1A were changed from Cleft palate, psychomotor retardation, and distinctive facial features, OMIM:616728; Developmental delay and distinctive facial features to Cleft palate, psychomotor retardation, and distinctive facial features, OMIM:616728
Fetal anomalies v4.135 KCNH1 Achchuthan Shanmugasundram Phenotypes for gene: KCNH1 were changed from Zimmermann-Laband syndrome 1, OMIM:135500; TEMPLE BARRAISTER SYNDROME to Zimmermann-Laband syndrome 1, OMIM:135500
Fetal anomalies v4.134 HIST1H4C Achchuthan Shanmugasundram Phenotypes for gene: HIST1H4C were changed from HIST1H4C; Tessadori-van Haaften neurodevelopmental syndrome 1, OMIM:619758 to Tessadori-van Haaften neurodevelopmental syndrome 1, OMIM:619758
Fetal anomalies v4.133 GLMN Achchuthan Shanmugasundram Phenotypes for gene: GLMN were changed from Glomulovenous malformations, OMIM:138000; GLOMUVENOUS MALFORMATIONS to Glomulovenous malformations, OMIM:138000
Fetal anomalies v4.132 GABRB2 Achchuthan Shanmugasundram Phenotypes for gene: GABRB2 were changed from Developmental and epileptic encephalopathy 92, OMIM:617829; Epilepsy and intellectual disability to Developmental and epileptic encephalopathy 92, OMIM:617829
Fetal anomalies v4.131 FGF9 Achchuthan Shanmugasundram Phenotypes for gene: FGF9 were changed from Multiple synostoses syndrome 3, OMIM:612961; MULTIPLE SYNOSTOSES SYNDROME TYPE 3 to Multiple synostoses syndrome 3, OMIM:612961
Fetal anomalies v4.130 EMC1 Achchuthan Shanmugasundram Phenotypes for gene: EMC1 were changed from Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.; Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875 to Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875
Fetal anomalies v4.129 DOCK7 Achchuthan Shanmugasundram Phenotypes for gene: DOCK7 were changed from EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 to Developmental and epileptic encephalopathy 23, OMIM:615859
Fetal anomalies v4.128 DOCK7 Achchuthan Shanmugasundram Publications for gene: DOCK7 were set to
Fetal anomalies v4.127 DNAJC19 Achchuthan Shanmugasundram Phenotypes for gene: DNAJC19 were changed from 3-methylglutaconic aciduria, type V 610198 to 3-methylglutaconic aciduria, type V, OMIM:610198
Fetal anomalies v4.126 DNAJC19 Achchuthan Shanmugasundram Publications for gene: DNAJC19 were set to
Fetal anomalies v4.125 CTDP1 Achchuthan Shanmugasundram Phenotypes for gene: CTDP1 were changed from CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME to Congenital cataracts, facial dysmorphism, and neuropathy, OMIM:604168
Fetal anomalies v4.124 CTDP1 Achchuthan Shanmugasundram Publications for gene: CTDP1 were set to 24690360; 14517542; 20301787; 29174527
Fetal anomalies v4.123 CPAMD8 Achchuthan Shanmugasundram Phenotypes for gene: CPAMD8 were changed from Anterior Segment Dysgenesis to Anterior segment dysgenesis 8, OMIM:617319
Fetal anomalies v4.122 CPAMD8 Achchuthan Shanmugasundram Publications for gene: CPAMD8 were set to
Fetal anomalies v4.121 COLGALT1 Achchuthan Shanmugasundram Phenotypes for gene: COLGALT1 were changed from Brain small vessel disease 3, MIM# 618360 to Brain small vessel disease 3, OMIM:618360
Fetal anomalies v4.120 CELSR1 Achchuthan Shanmugasundram Publications for gene: CELSR1 were set to
Fetal anomalies v4.119 CAPN15 Achchuthan Shanmugasundram Phenotypes for gene: CAPN15 were changed from microphthalmia HP:0000568; coloboma HP:0000589; Oculogastrointestinal neurodevelopmental syndrome, OMIM:619318 to Oculogastrointestinal neurodevelopmental syndrome, OMIM:619318; microphthalmia HP:0000568; coloboma HP:0000589
Fetal anomalies v4.118 CACNA1D Achchuthan Shanmugasundram Publications for gene: CACNA1D were set to 32410215
Fetal anomalies v4.117 CACNA1A Achchuthan Shanmugasundram Phenotypes for gene: CACNA1A were changed from Developmental and epileptic encephalopathy 42, OMIM:617106; EPILEPTIC ENCEPHALOPATHY to Developmental and epileptic encephalopathy 42, OMIM:617106
Fetal anomalies v4.116 ATP1A3 Achchuthan Shanmugasundram Phenotypes for gene: ATP1A3 were changed from Polymicrogyria; RAPID-ONSET DYSTONIA-PARKINSONISM; Developmental and epileptic encephalopathy 99, OMIM:619606; ALTERNATING HEMIPLEGIA OF CHILDHOOD to Developmental and epileptic encephalopathy 99, OMIM:619606; Polymicrogyria
Fetal anomalies v4.115 ASXL2 Achchuthan Shanmugasundram Phenotypes for gene: ASXL2 were changed from Developmental delay, macrocephaly, and dysmorphic features; Shashi-Pena syndrome, OMIM:617190 to Shashi-Pena syndrome, OMIM:617190
Fetal anomalies v4.114 AP4M1 Achchuthan Shanmugasundram Phenotypes for gene: AP4M1 were changed from CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 3 to Spastic paraplegia 50, autosomal recessive, OMIM:612936
Fetal anomalies v4.113 AP4M1 Achchuthan Shanmugasundram Publications for gene: AP4M1 were set to
Fetal anomalies v4.112 AGT Achchuthan Shanmugasundram Publications for gene: AGT were set to 28976722
Fetal anomalies v4.111 ACVR1 Achchuthan Shanmugasundram Phenotypes for gene: ACVR1 were changed from FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; Fibrodysplasia ossificans progressiva, OMIM:135100 to Fibrodysplasia ossificans progressiva, OMIM:135100
Fetal anomalies v4.110 AARS Achchuthan Shanmugasundram Publications for gene: AARS were set to
Fetal anomalies v4.109 ZNF699 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ZNF699.
Tag Q3_24_NHS_review tag was added to gene: ZNF699.
Fetal anomalies v4.109 ZNF526 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ZNF526.
Tag Q3_24_NHS_review tag was added to gene: ZNF526.
Fetal anomalies v4.109 ZNF462 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ZNF462.
Tag Q3_24_NHS_review tag was added to gene: ZNF462.
Fetal anomalies v4.109 ZNF335 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ZNF335.
Tag Q3_24_NHS_review tag was added to gene: ZNF335.
Fetal anomalies v4.109 ZMYM2 Achchuthan Shanmugasundram Publications for gene: ZMYM2 were set to
Fetal anomalies v4.108 ZMYM2 Achchuthan Shanmugasundram Tag Q3_24_NHS_review tag was added to gene: ZMYM2.
Fetal anomalies v4.108 ZMYM2 Achchuthan Shanmugasundram Tag Q3_24_MOI tag was added to gene: ZMYM2.
Fetal anomalies v4.108 ZMIZ1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ZMIZ1.
Tag Q3_24_NHS_review tag was added to gene: ZMIZ1.
Fetal anomalies v4.108 WWOX Achchuthan Shanmugasundram Phenotypes for gene: WWOX were changed from EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28; SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 to Developmental and epileptic encephalopathy 28, OMIM:616211
Fetal anomalies v4.107 WWOX Achchuthan Shanmugasundram Publications for gene: WWOX were set to
Fetal anomalies v4.106 WWOX Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: WWOX.
Tag Q3_24_NHS_review tag was added to gene: WWOX.
Fetal anomalies v4.106 WDR4 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: WDR4.
Tag Q3_24_NHS_review tag was added to gene: WDR4.
Fetal anomalies v4.106 WDR37 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: WDR37.
Tag Q3_24_NHS_review tag was added to gene: WDR37.
Fetal anomalies v4.106 VPS4A Achchuthan Shanmugasundram edited their review of gene: VPS4A: Changed phenotypes to: CIMDAG syndrome, MIM #619273
Fetal anomalies v4.106 VPS4A Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: VPS4A.
Tag Q3_24_NHS_review tag was added to gene: VPS4A.
Fetal anomalies v4.106 UBA2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: UBA2.
Tag Q3_24_NHS_review tag was added to gene: UBA2.
Fetal anomalies v4.106 TSEN15 Achchuthan Shanmugasundram Phenotypes for gene: TSEN15 were changed from Pontocerebellar Hypoplasia and Progressive Microcephaly to Pontocerebellar hypoplasia, type 2F, OMIM:617026
Fetal anomalies v4.105 TSEN15 Achchuthan Shanmugasundram Publications for gene: TSEN15 were set to
Fetal anomalies v4.104 TSEN15 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: TSEN15.
Tag Q3_24_NHS_review tag was added to gene: TSEN15.
Fetal anomalies v4.104 TRRAP Achchuthan Shanmugasundram Phenotypes for gene: TRRAP were changed from multiple congenital anomalies; Developmental delay with or without dysmorphic facies and autism, OMIM:618454 to Developmental delay with or without dysmorphic facies and autism, OMIM:618454; multiple congenital anomalies
Fetal anomalies v4.103 TRRAP Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: TRRAP.
Tag Q3_24_NHS_review tag was added to gene: TRRAP.
Fetal anomalies v4.103 TRIM71 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: TRIM71.
Tag Q3_24_NHS_review tag was added to gene: TRIM71.
Fetal anomalies v4.103 TP73 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: TP73.
Tag Q3_24_NHS_review tag was added to gene: TP73.
Fetal anomalies v4.103 TOR1AIP1 Achchuthan Shanmugasundram Phenotypes for gene: TOR1AIP1 were changed from congenital myasthenic syndrome; Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072 to Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072; congenital myasthenic syndrome
Fetal anomalies v4.102 TOR1AIP1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: TOR1AIP1.
Tag Q3_24_NHS_review tag was added to gene: TOR1AIP1.
Fetal anomalies v4.102 TMTC3 Achchuthan Shanmugasundram Phenotypes for gene: TMTC3 were changed from Lissencephaly 8, OMIM:617255 to Lissencephaly 8, OMIM:617255
Fetal anomalies v4.102 TMTC3 Achchuthan Shanmugasundram Phenotypes for gene: TMTC3 were changed from Cobblestone Lissencephaly to Lissencephaly 8, OMIM:617255
Fetal anomalies v4.101 TMTC3 Achchuthan Shanmugasundram Publications for gene: TMTC3 were set to
Fetal anomalies v4.100 TMTC3 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: TMTC3.
Tag Q3_24_NHS_review tag was added to gene: TMTC3.
Fetal anomalies v4.100 TMEM218 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: TMEM218.
Tag Q3_24_NHS_review tag was added to gene: TMEM218.
Fetal anomalies v4.100 THOC2 Achchuthan Shanmugasundram edited their review of gene: THOC2: Changed phenotypes to: Mental retardation, X-linked 12/35, MIM #300957
Fetal anomalies v4.100 THOC2 Achchuthan Shanmugasundram Phenotypes for gene: THOC2 were changed from MENTAL RETARDATION, X-LINKED 12 to Intellectual developmental disorder, X-linked 12, OMIM:300957
Fetal anomalies v4.99 THOC2 Achchuthan Shanmugasundram Publications for gene: THOC2 were set to
Fetal anomalies v4.98 THOC2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: THOC2.
Tag Q3_24_NHS_review tag was added to gene: THOC2.
Fetal anomalies v4.98 STT3A Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: STT3A.
Tag Q3_24_NHS_review tag was added to gene: STT3A.
Fetal anomalies v4.98 SPTB Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SPTB.
Tag Q3_24_NHS_review tag was added to gene: SPTB.
Fetal anomalies v4.98 SPINT2 Achchuthan Shanmugasundram Phenotypes for gene: SPINT2 were changed from congenital secretory sodium diarrhea 3, MONDO:0010036; Diarrhea 3, secretory sodium, congenital, syndromic, OMIM:270420 to Diarrhea 3, secretory sodium, congenital, syndromic, OMIM:270420; congenital secretory sodium diarrhea 3, MONDO:0010036
Fetal anomalies v4.97 SPINT2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SPINT2.
Tag Q3_24_NHS_review tag was added to gene: SPINT2.
Fetal anomalies v4.97 SPEN Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SPEN.
Tag Q3_24_NHS_review tag was added to gene: SPEN.
Fetal anomalies v4.97 SOX11 Achchuthan Shanmugasundram Phenotypes for gene: SOX11 were changed from Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, OMIM:615866; MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27 to Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, OMIM:615866
Fetal anomalies v4.96 SOX11 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SOX11.
Tag Q3_24_NHS_review tag was added to gene: SOX11.
Fetal anomalies v4.96 SMARCD1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SMARCD1.
Tag Q3_24_NHS_review tag was added to gene: SMARCD1.
Fetal anomalies v4.96 SMAD2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SMAD2.
Tag Q3_24_NHS_review tag was added to gene: SMAD2.
Fetal anomalies v4.96 SKIV2L Achchuthan Shanmugasundram Phenotypes for gene: SKIV2L were changed from Trichohepatoenteric syndrome 2, OMIM:614602; TRICHOHEPATOENTERIC SYNDROME 2 to Trichohepatoenteric syndrome 2, OMIM:614602
Fetal anomalies v4.95 SKIV2L Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SKIV2L.
Tag Q3_24_NHS_review tag was added to gene: SKIV2L.
Fetal anomalies v4.95 SIN3A Achchuthan Shanmugasundram Phenotypes for gene: SIN3A were changed from Witteveen-Kolk syndrome, OMIM:613406 to Witteveen-Kolk syndrome, OMIM:613406
Fetal anomalies v4.94 SIN3A Achchuthan Shanmugasundram Phenotypes for gene: SIN3A were changed from SYNDROMIC INTELLECTUAL DISABILITY; Witteveen-Kolk syndrome, OMIM:613406 to Witteveen-Kolk syndrome, OMIM:613406
Fetal anomalies v4.93 SIN3A Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SIN3A.
Tag Q3_24_NHS_review tag was added to gene: SIN3A.
Fetal anomalies v4.93 SHMT2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SHMT2.
Tag Q3_24_NHS_review tag was added to gene: SHMT2.
Fetal anomalies v4.93 SEMA3A Achchuthan Shanmugasundram Phenotypes for gene: SEMA3A were changed from {Hypogonadotropic hypogonadism 16 with or without anosmia, OMIM:614897; congenital heart disease; skeletal anomalies to {Hypogonadotropic hypogonadism 16 with or without anosmia}, OMIM:614897; congenital heart disease; skeletal anomalies
Fetal anomalies v4.92 SEMA3A Achchuthan Shanmugasundram Phenotypes for gene: SEMA3A were changed from skeletal anomalies; {Hypogonadotropic hypogonadism 16 with or without anosmia, OMIM:614897; congenital heart disease to {Hypogonadotropic hypogonadism 16 with or without anosmia, OMIM:614897; congenital heart disease; skeletal anomalies
Fetal anomalies v4.91 SEMA3A Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SEMA3A.
Tag Q3_24_NHS_review tag was added to gene: SEMA3A.
Fetal anomalies v4.91 SCN5A Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SCN5A.
Tag Q3_24_NHS_review tag was added to gene: SCN5A.
Fetal anomalies v4.91 SCN3A Achchuthan Shanmugasundram Phenotypes for gene: SCN3A were changed from Epilepsy, familial focal, with variable foci 4, OMIM:617935; Intellectual disability; Malformations of cortical development; Epileptic encephalopathy, early infantile, 62, OMIM:617938 to Epileptic encephalopathy, early infantile, 62, OMIM:617938; Epilepsy, familial focal, with variable foci 4, OMIM:617935; Intellectual disability; Malformations of cortical development
Fetal anomalies v4.90 SCN3A Achchuthan Shanmugasundram Phenotypes for gene: SCN3A were changed from Epilepsy, familial focal, with variable foci 4, OMIM:617935; Intellectual disability; Focal epilepsy; Malformations of cortical development; Epileptic encephalopathy, early infantile, 62, OMIM:617938 to Epilepsy, familial focal, with variable foci 4, OMIM:617935; Intellectual disability; Malformations of cortical development; Epileptic encephalopathy, early infantile, 62, OMIM:617938
Fetal anomalies v4.89 SCN3A Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SCN3A.
Tag Q3_24_NHS_review tag was added to gene: SCN3A.
Fetal anomalies v4.89 SCAF4 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SCAF4.
Tag Q3_24_NHS_review tag was added to gene: SCAF4.
Fetal anomalies v4.89 RPL15 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RPL15.
Tag Q3_24_NHS_review tag was added to gene: RPL15.
Fetal anomalies v4.89 RNU12 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RNU12.
Tag Q3_24_NHS_review tag was added to gene: RNU12.
Fetal anomalies v4.89 RNF125 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RNF125.
Tag Q3_24_NHS_review tag was added to gene: RNF125.
Fetal anomalies v4.89 RNF113A Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RNF113A.
Tag Q3_24_NHS_review tag was added to gene: RNF113A.
Fetal anomalies v4.89 RLIM Achchuthan Shanmugasundram Phenotypes for gene: RLIM were changed from Tonne-Kalscheuer syndrome, OMIM:300978; INTELLECTUAL DISABILITY to Tonne-Kalscheuer syndrome, OMIM:300978
Fetal anomalies v4.88 RLIM Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RLIM.
Tag Q3_24_NHS_review tag was added to gene: RLIM.
Fetal anomalies v4.88 RBP4 Achchuthan Shanmugasundram edited their review of gene: RBP4: Changed phenotypes to: Microphthalmia, isolated, with coloboma 10, OMIM:616428
Fetal anomalies v4.88 RBP4 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RBP4.
Tag Q3_24_NHS_review tag was added to gene: RBP4.
Fetal anomalies v4.88 RAD51 Achchuthan Shanmugasundram Phenotypes for gene: RAD51 were changed from Fanconi anaemia, complementation group R, MIM# 617244; MIRROR MOVEMENTS 2 to Fanconi anaemia, complementation group R, OMIM:617244
Fetal anomalies v4.87 RAD51 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RAD51.
Tag Q3_24_NHS_review tag was added to gene: RAD51.
Fetal anomalies v4.87 RAD50 Achchuthan Shanmugasundram Phenotypes for gene: RAD50 were changed from MONDO:0013118; Nijmegen breakage syndrome-like disorder, OMIM:613078 to Nijmegen breakage syndrome-like disorder, OMIM:613078; MONDO:0013118
Fetal anomalies v4.86 RAD50 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RAD50.
Tag Q3_24_NHS_review tag was added to gene: RAD50.
Fetal anomalies v4.86 PXDN Achchuthan Shanmugasundram Phenotypes for gene: PXDN were changed from CONGENITAL CATARACT, CORNEAL OPACITY, AND DEVELOPMENTAL GLAUCOMA to Anterior segment dysgenesis 7, with sclerocornea, OMIM:269400
Fetal anomalies v4.85 PXDN Achchuthan Shanmugasundram Publications for gene: PXDN were set to
Fetal anomalies v4.84 PXDN Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PXDN.
Tag Q3_24_NHS_review tag was added to gene: PXDN.
Intellectual disability v7.22 IPO8 Nour Elkhateeb changed review comment from: Intellectual disability is reported in some affected individuals with IPO8-related VISS syndrome (PMID 34010604, 34010605).
Sources: Literature; to: Intellectual disability is reported in some affected individuals with IPO8-related VISS syndrome (PMID 34010604, 34010605).
Sources: Literature
Intellectual disability v7.22 IPO8 Nour Elkhateeb gene: IPO8 was added
gene: IPO8 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: IPO8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IPO8 were set to PMID 34010604; 34010605
Phenotypes for gene: IPO8 were set to Intellectual disability
Penetrance for gene: IPO8 were set to unknown
Added comment: Intellectual disability is reported in some affected individuals with IPO8-related VISS syndrome (PMID 34010604, 34010605).
Sources: Literature
Fetal anomalies v4.84 PTPN23 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PTPN23.
Tag Q3_24_NHS_review tag was added to gene: PTPN23.
Fetal anomalies v4.84 PRR12 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PRR12.
Tag Q3_24_NHS_review tag was added to gene: PRR12.
Fetal anomalies v4.84 PRF1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PRF1.
Tag Q3_24_NHS_review tag was added to gene: PRF1.
Fetal anomalies v4.84 PPP3CA Achchuthan Shanmugasundram Phenotypes for gene: PPP3CA were changed from Severe Neurodevelopmental Disease with Seizures; Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, OMIM:618265 to Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, OMIM:618265
Fetal anomalies v4.83 PPP3CA Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PPP3CA.
Tag Q3_24_NHS_review tag was added to gene: PPP3CA.
Fetal anomalies v4.83 PPP2R3C Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PPP2R3C.
Tag Q3_24_NHS_review tag was added to gene: PPP2R3C.
Fetal anomalies v4.83 PPP2CA Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PPP2CA.
Tag Q3_24_NHS_review tag was added to gene: PPP2CA.
Fetal anomalies v4.83 PPIL1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PPIL1.
Tag Q3_24_NHS_review tag was added to gene: PPIL1.
Fetal anomalies v4.83 PLPBP Achchuthan Shanmugasundram Phenotypes for gene: PLPBP were changed from Vitamin-B6-Dependent Epilepsy to Epilepsy, early-onset, vitamin B6-dependent, OMIM:617290
Fetal anomalies v4.82 PLPBP Achchuthan Shanmugasundram Publications for gene: PLPBP were set to
Fetal anomalies v4.81 PLPBP Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PLPBP.
Tag Q3_24_NHS_review tag was added to gene: PLPBP.
Fetal anomalies v4.81 PLEC Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PLEC.
Tag Q3_24_NHS_review tag was added to gene: PLEC.
Fetal anomalies v4.81 PIGH Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PIGH.
Tag Q3_24_NHS_review tag was added to gene: PIGH.
Fetal anomalies v4.81 PIDD1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PIDD1.
Tag Q3_24_NHS_review tag was added to gene: PIDD1.
Fetal anomalies v4.81 PHF21A Achchuthan Shanmugasundram Phenotypes for gene: PHF21A were changed from POTOCKI-SHAFFER SYNDROME; Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, OMIM:618725 to Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, OMIM:618725
Fetal anomalies v4.80 PHF21A Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PHF21A.
Tag Q3_24_NHS_review tag was added to gene: PHF21A.
Fetal anomalies v4.80 PGAP1 Achchuthan Shanmugasundram Phenotypes for gene: PGAP1 were changed from Intellectual disability, encephalopathy, impaired GPI-anchor maturation to Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, OMIM:615802
Fetal anomalies v4.79 PGAP1 Achchuthan Shanmugasundram Publications for gene: PGAP1 were set to
Fetal anomalies v4.78 PGAP1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PGAP1.
Tag Q3_24_NHS_review tag was added to gene: PGAP1.
Fetal anomalies v4.78 PDE3A Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PDE3A.
Tag Q3_24_NHS_review tag was added to gene: PDE3A.
Fetal anomalies v4.78 PCDH12 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PCDH12.
Tag Q3_24_NHS_review tag was added to gene: PCDH12.
Fetal anomalies v4.78 PAX1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PAX1.
Tag Q3_24_NHS_review tag was added to gene: PAX1.
Fetal anomalies v4.78 PACS2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PACS2.
Tag Q3_24_NHS_review tag was added to gene: PACS2.
Fetal anomalies v4.78 PACS1 Achchuthan Shanmugasundram Phenotypes for gene: PACS1 were changed from Schuurs-Hoeijmakers syndrome, OMIM:615009; INTELLECTUAL DISABILITY to Schuurs-Hoeijmakers syndrome, OMIM:615009
Fetal anomalies v4.77 PACS1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PACS1.
Tag Q3_24_NHS_review tag was added to gene: PACS1.
Fetal anomalies v4.77 OTUD6B Achchuthan Shanmugasundram Publications for gene: OTUD6B were set to
Fetal anomalies v4.76 OTUD6B Achchuthan Shanmugasundram Phenotypes for gene: OTUD6B were changed from Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features to Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM:617452
Fetal anomalies v4.75 OTUD6B Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: OTUD6B.
Tag Q3_24_NHS_review tag was added to gene: OTUD6B.
Fetal anomalies v4.75 NUP188 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: NUP188.
Tag Q3_24_NHS_review tag was added to gene: NUP188.
Fetal anomalies v4.75 NSRP1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: NSRP1.
Tag Q3_24_NHS_review tag was added to gene: NSRP1.
Fetal anomalies v4.75 NONO Achchuthan Shanmugasundram Phenotypes for gene: NONO were changed from Pulmonary stenosis; Left ventricular non-compaction cardiomyopathy (LVNC); Ebstein’s anomaly; Ventricular septal defect (VSD); Intellectual developmental disorder, X-linked syndromic 34, OMIM:300967; Atresia to Intellectual developmental disorder, X-linked syndromic 34, OMIM:300967
Fetal anomalies v4.74 NONO Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: NONO.
Tag Q3_24_NHS_review tag was added to gene: NONO.
Fetal anomalies v4.74 NFIB Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: NFIB.
Tag Q3_24_NHS_review tag was added to gene: NFIB.
Fetal anomalies v4.74 NFIA Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: NFIA.
Tag Q3_24_NHS_review tag was added to gene: NFIA.
Fetal anomalies v4.74 MYOD1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MYOD1.
Tag Q3_24_NHS_review tag was added to gene: MYOD1.
Fetal anomalies v4.74 MPDZ Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MPDZ.
Tag Q3_24_NHS_review tag was added to gene: MPDZ.
Fetal anomalies v4.74 MINPP1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MINPP1.
Tag Q3_24_NHS_review tag was added to gene: MINPP1.
Fetal anomalies v4.74 MED27 Achchuthan Shanmugasundram Phenotypes for gene: MED27 were changed from Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia - MIM#619286 to Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, OMIM:619286
Fetal anomalies v4.73 MED27 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MED27.
Tag Q3_24_NHS_review tag was added to gene: MED27.
Fetal anomalies v4.73 MED25 Achchuthan Shanmugasundram Phenotypes for gene: MED25 were changed from Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643; hypospadias, thin corpus callosum, cerebral ventricular dilatation; multiple congenital anomalies; congenital heart defects; Basel-Vanagait-Smirin-Yosef syndrome, OMIM:616449 to Basel-Vanagait-Smirin-Yosef syndrome, OMIM:616449
Fetal anomalies v4.72 MED25 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MED25.
Tag Q3_24_NHS_review tag was added to gene: MED25.
Fetal anomalies v4.72 MCIDAS Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MCIDAS.
Tag Q3_24_NHS_review tag was added to gene: MCIDAS.
Fetal anomalies v4.72 MAPKAPK5 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MAPKAPK5.
Tag Q3_24_NHS_review tag was added to gene: MAPKAPK5.
Fetal anomalies v4.72 MAN2C1 Achchuthan Shanmugasundram Phenotypes for gene: MAN2C1 were changed from Congenital disorder of deglycosylation 2, MIM# 619775 to Congenital disorder of deglycosylation 2, OMIM:619775
Fetal anomalies v4.71 MAN2C1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MAN2C1.
Tag Q3_24_NHS_review tag was added to gene: MAN2C1.
Fetal anomalies v4.71 MAB21L1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MAB21L1.
Tag Q3_24_NHS_review tag was added to gene: MAB21L1.
Fetal anomalies v4.71 LTBP1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: LTBP1.
Tag Q3_24_NHS_review tag was added to gene: LTBP1.
Fetal anomalies v4.71 KIF4A Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: KIF4A.
Tag Q3_24_NHS_review tag was added to gene: KIF4A.
Fetal anomalies v4.71 KIDINS220 Achchuthan Shanmugasundram Phenotypes for gene: KIDINS220 were changed from Ventriculomegaly and arthrogryposis, OMIM:619501 to Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296; cerebral ventriculomegaly; limb contractures
Fetal anomalies v4.70 KIDINS220 Achchuthan Shanmugasundram Publications for gene: KIDINS220 were set to 33205811; 28934391; 22048169
Fetal anomalies v4.69 KIDINS220 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: KIDINS220.
Tag Q3_24_NHS_review tag was added to gene: KIDINS220.
Fetal anomalies v4.69 JAM3 Achchuthan Shanmugasundram Phenotypes for gene: JAM3 were changed from HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS to Haemorrhagic destruction of the brain, subependymal calcification, and cataracts, OMIM:613730
Fetal anomalies v4.68 JAM3 Achchuthan Shanmugasundram Publications for gene: JAM3 were set to
Fetal anomalies v4.67 JAM3 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: JAM3.
Tag Q3_24_NHS_review tag was added to gene: JAM3.
Fetal anomalies v4.67 IRX5 Achchuthan Shanmugasundram Phenotypes for gene: IRX5 were changed from HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY to Hamamy syndrome, OMIM:611174
Fetal anomalies v4.66 IRX5 Achchuthan Shanmugasundram Publications for gene: IRX5 were set to
Fetal anomalies v4.65 IRX5 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: IRX5.
Tag Q3_24_NHS_review tag was added to gene: IRX5.
Fetal anomalies v4.65 INTS1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: INTS1.
Tag Q3_24_NHS_review tag was added to gene: INTS1.
Fetal anomalies v4.65 IFT74 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: IFT74.
Tag Q3_24_NHS_review tag was added to gene: IFT74.
Fetal anomalies v4.65 HYAL2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: HYAL2.
Tag Q3_24_NHS_review tag was added to gene: HYAL2.
Fetal anomalies v4.65 HSPA9 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: HSPA9.
Tag Q3_24_NHS_review tag was added to gene: HSPA9.
Fetal anomalies v4.65 HS2ST1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: HS2ST1.
Tag Q3_24_NHS_review tag was added to gene: HS2ST1.
Fetal anomalies v4.65 HNRNPH2 Achchuthan Shanmugasundram Phenotypes for gene: HNRNPH2 were changed from Neurodevelopmental Disorder in Females to Intellectual developmental disorder, X-linked, syndromic, Bain type, OMIM:300986
Fetal anomalies v4.64 HNRNPH2 Achchuthan Shanmugasundram Publications for gene: HNRNPH2 were set to
Fetal anomalies v4.63 HNRNPH2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: HNRNPH2.
Tag Q3_24_NHS_review tag was added to gene: HNRNPH2.
Fetal anomalies v4.63 HMX1 Achchuthan Shanmugasundram Phenotypes for gene: HMX1 were changed from OCULOAURICULAR SYNDROME to Oculoauricular syndrome, OMIM:612109
Fetal anomalies v4.62 HMX1 Achchuthan Shanmugasundram Publications for gene: HMX1 were set to
Fetal anomalies v4.61 HMX1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: HMX1.
Tag Q3_24_NHS_review tag was added to gene: HMX1.
Fetal anomalies v4.61 HK1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: HK1.
Tag Q3_24_NHS_review tag was added to gene: HK1.
Fetal anomalies v4.61 HHAT Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: HHAT.
Tag Q3_24_NHS_review tag was added to gene: HHAT.
Fetal anomalies v4.61 H3F3A Achchuthan Shanmugasundram Phenotypes for gene: H3F3A were changed from Bryant-Li-Bhoj neurodevelopmental syndrome 1, OMIM:619720; Craniofacial with neurodevelopment disorders to Bryant-Li-Bhoj neurodevelopmental syndrome 1, OMIM:619720
Fetal anomalies v4.60 H3F3A Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: H3F3A.
Tag Q3_24_NHS_review tag was added to gene: H3F3A.
Fetal anomalies v4.60 GTPBP2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: GTPBP2.
Tag Q3_24_NHS_review tag was added to gene: GTPBP2.
Fetal anomalies v4.60 GRM7 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: GRM7.
Tag Q3_24_NHS_review tag was added to gene: GRM7.
Fetal anomalies v4.60 GPX4 Achchuthan Shanmugasundram Publications for gene: GPX4 were set to
Fetal anomalies v4.59 GPX4 Achchuthan Shanmugasundram Phenotypes for gene: GPX4 were changed from SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE to Spondylometaphyseal dysplasia, Sedaghatian type, OMIM:250220
Fetal anomalies v4.58 GPX4 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: GPX4.
Tag Q3_24_NHS_review tag was added to gene: GPX4.
Fetal anomalies v4.58 GHR Achchuthan Shanmugasundram Phenotypes for gene: GHR were changed from Growth hormone insensitivity, partial, OMIM:604271; PITUITARY DWARFISM II; Laron dwarfism, OMIM:262500 to Growth hormone insensitivity, partial, OMIM:604271; Laron dwarfism, OMIM:262500
Fetal anomalies v4.57 GHR Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: GHR.
Tag Q3_24_NHS_review tag was added to gene: GHR.
Fetal anomalies v4.57 GFRA1 Achchuthan Shanmugasundram Publications for gene: GFRA1 were set to 33020172
Fetal anomalies v4.56 GFRA1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: GFRA1.
Tag Q3_24_NHS_review tag was added to gene: GFRA1.
Fetal anomalies v4.56 GDF11 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: GDF11.
Tag Q3_24_NHS_review tag was added to gene: GDF11.
Fetal anomalies v4.56 GATA1 Achchuthan Shanmugasundram Tag Q3_24_expert_review was removed from gene: GATA1.
Tag Q3_24_NHS_review tag was added to gene: GATA1.
Fetal anomalies v4.56 FRA10AC1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FRA10AC1.
Tag Q3_24_NHS_review tag was added to gene: FRA10AC1.
Fetal anomalies v4.56 FOXJ1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FOXJ1.
Tag Q3_24_NHS_review tag was added to gene: FOXJ1.
Fetal anomalies v4.56 FBRSL1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FBRSL1.
Tag Q3_24_NHS_review tag was added to gene: FBRSL1.
Fetal anomalies v4.56 FBRSL1 Achchuthan Shanmugasundram Phenotypes for gene: FBRSL1 were changed from congenital heart defect; Congenital malformations to Congenital heart defect; Congenital malformations
Fetal anomalies v4.55 FAT1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FAT1.
Tag Q3_24_NHS_review tag was added to gene: FAT1.
Fetal anomalies v4.55 FAM149B1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FAM149B1.
Tag Q3_24_NHS_review tag was added to gene: FAM149B1.
Fetal anomalies v4.55 EXOC7 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: EXOC7.
Tag Q3_24_NHS_review tag was added to gene: EXOC7.
Fetal anomalies v4.55 ERGIC1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ERGIC1.
Tag Q3_24_NHS_review tag was added to gene: ERGIC1.
Fetal anomalies v4.55 ERBB3 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ERBB3.
Tag Q3_24_NHS_review tag was added to gene: ERBB3.
Fetal anomalies v4.55 EN1 Achchuthan Shanmugasundram edited their review of gene: EN1: Changed phenotypes to: ENDOVE syndrome, limb-brain type, OMIM:619218
Primary immunodeficiency or monogenic inflammatory bowel disease v6.4 SAMD9 Nour Elkhateeb changed review comment from: Evidence in literature of immunodeficiency in several individuals with SAMD9-related MIRAGE syndrome. (PMID: 31620126, 31620126, 28202457, 33423168).; to: Evidence in literature of immunodeficiency in several individuals with SAMD9-related MIRAGE syndrome. (PMID: 31620126, 31620126, 28202457, 33423168).
Primary immunodeficiency or monogenic inflammatory bowel disease v6.4 SAMD9 Nour Elkhateeb reviewed gene: SAMD9: Rating: ; Mode of pathogenicity: None; Publications: PMID: 31620126, 31620126, 28202457, 33423168; Phenotypes: Immunodeficiency, Recurrent infections, Mild decrease in natural killer cell activity, Low CD4-to-CD8 ratio, Mild decrease in neutrophil phagocytic activity; Mode of inheritance: None
Fetal anomalies v4.55 EN1 Achchuthan Shanmugasundram changed review comment from: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.; to: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v4.55 EN1 Achchuthan Shanmugasundram Phenotypes for gene: EN1 were changed from ENDOVE syndrome, limb-only type, OMIM:619217; ENDOVE syndrome, limb-brain type, OMIM:619218 to ENDOVE syndrome, limb-brain type, OMIM:619218
Fetal anomalies v4.54 EN1 Achchuthan Shanmugasundram Phenotypes for gene: EN1 were changed from ENDOVE syndrome, limb-only type, MIM# 619217; ENDOVE syndrome, limb-brain type, MIM# 619218 to ENDOVE syndrome, limb-only type, OMIM:619217; ENDOVE syndrome, limb-brain type, OMIM:619218
Fetal anomalies v4.53 EN1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: EN1.
Tag Q3_24_NHS_review tag was added to gene: EN1.
Fetal anomalies v4.53 EFEMP2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: EFEMP2.
Tag Q3_24_NHS_review tag was added to gene: EFEMP2.
Fetal anomalies v4.53 EEF2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: EEF2.
Tag Q3_24_NHS_review tag was added to gene: EEF2.
Fetal anomalies v4.53 DYNC1I2 Achchuthan Shanmugasundram Phenotypes for gene: DYNC1I2 were changed from Neurodevelopmental disorder with microcephaly and structural brain anomalies , OMIM:618492 to Neurodevelopmental disorder with microcephaly and structural brain anomalies, OMIM:618492
Fetal anomalies v4.52 DYNC1I2 Achchuthan Shanmugasundram Phenotypes for gene: DYNC1I2 were changed from Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492 to Neurodevelopmental disorder with microcephaly and structural brain anomalies , OMIM:618492
Fetal anomalies v4.51 DYNC1I2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: DYNC1I2.
Tag Q3_24_NHS_review tag was added to gene: DYNC1I2.
Fetal anomalies v4.51 DYNC1I1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: DYNC1I1.
Tag Q3_24_NHS_review tag was added to gene: DYNC1I1.
Fetal anomalies v4.51 DPF2 Achchuthan Shanmugasundram Phenotypes for gene: DPF2 were changed from Coffin-Siris syndrome 7, OMIM:618027; Coffin Siris like disorder to Coffin-Siris syndrome 7, OMIM:618027
Fetal anomalies v4.50 DPF2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: DPF2.
Tag Q3_24_NHS_review tag was added to gene: DPF2.
Fetal anomalies v4.50 DLL1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: DLL1.
Tag Q3_24_NHS_review tag was added to gene: DLL1.
Fetal anomalies v4.50 DEPDC5 Achchuthan Shanmugasundram Phenotypes for gene: DEPDC5 were changed from Epilepsy; Structural brain malformations to Developmental and epileptic encephalopathy 111, OMIM:620504
Fetal anomalies v4.49 DEPDC5 Achchuthan Shanmugasundram Publications for gene: DEPDC5 were set to 32848577
Fetal anomalies v4.48 DEPDC5 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: DEPDC5.
Tag Q3_24_NHS_review tag was added to gene: DEPDC5.
Fetal anomalies v4.48 DCC Achchuthan Shanmugasundram Tag Q3_24_NHS_review tag was added to gene: DCC.
Fetal anomalies v4.48 CYBB Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: CYBB.
Tag Q3_24_NHS_review tag was added to gene: CYBB.
Fetal anomalies v4.48 CTNNA2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: CTNNA2.
Tag Q3_24_NHS_review tag was added to gene: CTNNA2.
Fetal anomalies v4.48 COA7 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: COA7.
Tag Q3_24_NHS_review tag was added to gene: COA7.
Fetal anomalies v4.48 CLTC Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: CLTC.
Tag Q3_24_NHS_review tag was added to gene: CLTC.
Fetal anomalies v4.48 CFAP52 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: CFAP52.
Tag Q3_24_NHS_review tag was added to gene: CFAP52.
Fetal anomalies v4.48 CFAP45 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: CFAP45.
Tag Q3_24_NHS_review tag was added to gene: CFAP45.
Fetal anomalies v4.48 CEP85L Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: CEP85L.
Tag Q3_23_NHS_review tag was added to gene: CEP85L.
Fetal anomalies v4.48 CCDC22 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: CCDC22.
Tag Q3_24_NHS_review tag was added to gene: CCDC22.
Fetal anomalies v4.48 CCDC22 Achchuthan Shanmugasundram Phenotypes for gene: CCDC22 were changed from SYNDROMIC X-LINKED INTELLECTUAL DISABILITY to Ritscher-Schinzel syndrome 2, OMIM:300963
Fetal anomalies v4.47 CCDC22 Achchuthan Shanmugasundram Publications for gene: CCDC22 were set to
Fetal anomalies v4.46 C2orf69 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: C2orf69.
Tag Q3_24_NHS_review tag was added to gene: C2orf69.
Fetal anomalies v4.46 C12orf57 Achchuthan Shanmugasundram Phenotypes for gene: C12orf57 were changed from COLOBOMA, HYPOPLASTIC CORPUS CALLOSUM AND INTELLECTUAL DISABILITY; TEMTAMY SYNDROME to Temtamy syndrome, OMIM:218340
Fetal anomalies v4.45 C12orf57 Achchuthan Shanmugasundram Publications for gene: C12orf57 were set to
Fetal anomalies v4.44 C12orf57 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: C12orf57.
Tag Q3_24_NHS_review tag was added to gene: C12orf57.
Fetal anomalies v4.44 BRD4 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: BRD4.
Tag Q3_24_NHS_review tag was added to gene: BRD4.
Fetal anomalies v4.44 BRCA1 Achchuthan Shanmugasundram Phenotypes for gene: BRCA1 were changed from INTELLECTUAL DISABILITY; Fanconi anaemia, complementation group S, OMIM:617883 to Fanconi anaemia, complementation group S, OMIM:617883
Fetal anomalies v4.43 BRCA1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: BRCA1.
Tag Q3_24_NHS_review tag was added to gene: BRCA1.
Fetal anomalies v4.43 ATN1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ATN1.
Tag Q3_24_NHS_review tag was added to gene: ATN1.
Fetal anomalies v4.43 ATAD1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ATAD1.
Tag Q3_24_NHS_review tag was added to gene: ATAD1.
Fetal anomalies v4.43 ARL3 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ARL3.
Tag Q3_24_NHS_review tag was added to gene: ARL3.
Fetal anomalies v4.43 ARID2 Achchuthan Shanmugasundram Phenotypes for gene: ARID2 were changed from ARID2-Coffin-Siris like disorder; Coffin-Siris syndrome 6, OMIM:617808 to Coffin-Siris syndrome 6, OMIM:617808
Fetal anomalies v4.42 ARID2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ARID2.
Tag Q3_24_NHS_review tag was added to gene: ARID2.
Fetal anomalies v4.42 APC2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: APC2.
Tag Q3_24_NHS_review tag was added to gene: APC2.
Fetal anomalies v4.42 AP4S1 Achchuthan Shanmugasundram Phenotypes for gene: AP4S1 were changed from CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 6 to Spastic paraplegia 52, autosomal recessive, OMIM:614067
Fetal anomalies v4.41 AP4S1 Achchuthan Shanmugasundram Publications for gene: AP4S1 were set to
Fetal anomalies v4.40 AP4S1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: AP4S1.
Tag Q3_24_NHS_review tag was added to gene: AP4S1.
Fetal anomalies v4.40 AP4B1 Achchuthan Shanmugasundram Publications for gene: AP4B1 were set to
Fetal anomalies v4.39 AP4B1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: AP4B1.
Tag Q3_24_NHS_review tag was added to gene: AP4B1.
Fetal anomalies v4.39 ANGPT2 Achchuthan Shanmugasundram Phenotypes for gene: ANGPT2 were changed from hydrops fetalis, MONDO:0015193; Lymphatic malformation 10 OMIM:619369; lymphatic malformation 10 MONDO:0023662 to hydrops fetalis, MONDO:0015193; Lymphatic malformation 10, OMIM:619369; lymphatic malformation 10, MONDO:0023662
Fetal anomalies v4.38 ANGPT2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ANGPT2.
Tag Q3_24_NHS_review tag was added to gene: ANGPT2.
Fetal anomalies v4.38 ALPK3 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ALPK3.
Tag Q3_24_NHS_review tag was added to gene: ALPK3.
Fetal anomalies v4.38 ALG14 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ALG14.
Tag Q3_24_NHS_review tag was added to gene: ALG14.
Fetal anomalies v4.38 ALDH1A2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ALDH1A2.
Tag Q3_24_NHS_review tag was added to gene: ALDH1A2.
Fetal anomalies v4.38 AFF3 Achchuthan Shanmugasundram Phenotypes for gene: AFF3 were changed from KINSSHIP syndrome, OMIM:619297 to KINSSHIP syndrome, OMIM:619297
Fetal anomalies v4.37 AFF3 Achchuthan Shanmugasundram Phenotypes for gene: AFF3 were changed from KINSSHIP syndrome, OMIM:619297; Skeletal dysplasia with severe neurological disease to KINSSHIP syndrome, OMIM:619297
Fetal anomalies v4.36 AFF3 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: AFF3.
Tag Q3_24_NHS_review tag was added to gene: AFF3.
Fetal anomalies v4.36 ADCY6 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ADCY6.
Tag Q3_24_NHS_review tag was added to gene: ADCY6.
Fetal anomalies v4.36 ACVRL1 Achchuthan Shanmugasundram Tag Q3_24_NHS_review tag was added to gene: ACVRL1.
Fetal anomalies v4.36 ACVRL1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ACVRL1.
Fetal anomalies v4.36 ZNHIT3 Achchuthan Shanmugasundram commented on gene: ZNHIT3
Fetal anomalies v4.36 ZNF699 Achchuthan Shanmugasundram commented on gene: ZNF699
Fetal anomalies v4.36 ZNF526 Achchuthan Shanmugasundram commented on gene: ZNF526
Fetal anomalies v4.36 ZNF462 Achchuthan Shanmugasundram commented on gene: ZNF462
Fetal anomalies v4.36 ZNF335 Achchuthan Shanmugasundram commented on gene: ZNF335
Fetal anomalies v4.36 ZMYM2 Achchuthan Shanmugasundram commented on gene: ZMYM2
Fetal anomalies v4.36 ZMIZ1 Achchuthan Shanmugasundram commented on gene: ZMIZ1
Fetal anomalies v4.36 ZFPM2 Achchuthan Shanmugasundram commented on gene: ZFPM2: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 ZBTB24 Achchuthan Shanmugasundram commented on gene: ZBTB24
Fetal anomalies v4.36 YRDC Achchuthan Shanmugasundram commented on gene: YRDC
Fetal anomalies v4.36 YIPF5 Achchuthan Shanmugasundram commented on gene: YIPF5
Fetal anomalies v4.36 YIF1B Achchuthan Shanmugasundram commented on gene: YIF1B
Fetal anomalies v4.36 YAP1 Achchuthan Shanmugasundram commented on gene: YAP1
Fetal anomalies v4.36 WWOX Achchuthan Shanmugasundram commented on gene: WWOX
Fetal anomalies v4.36 WDR4 Achchuthan Shanmugasundram commented on gene: WDR4
Fetal anomalies v4.36 WDR37 Achchuthan Shanmugasundram commented on gene: WDR37
Fetal anomalies v4.36 VPS4A Achchuthan Shanmugasundram commented on gene: VPS4A: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v4.36 UNC13D Achchuthan Shanmugasundram commented on gene: UNC13D
Fetal anomalies v4.36 UBR7 Achchuthan Shanmugasundram commented on gene: UBR7
Fetal anomalies v4.36 UBA2 Achchuthan Shanmugasundram commented on gene: UBA2
Fetal anomalies v4.36 TUBGCP2 Achchuthan Shanmugasundram commented on gene: TUBGCP2
Fetal anomalies v4.36 TTI2 Achchuthan Shanmugasundram commented on gene: TTI2
Fetal anomalies v4.36 TSHR Achchuthan Shanmugasundram commented on gene: TSHR
Fetal anomalies v4.36 TSEN15 Achchuthan Shanmugasundram commented on gene: TSEN15
Fetal anomalies v4.36 TRRAP Achchuthan Shanmugasundram commented on gene: TRRAP
Fetal anomalies v4.36 TRNT1 Achchuthan Shanmugasundram commented on gene: TRNT1
Fetal anomalies v4.36 TRIO Achchuthan Shanmugasundram commented on gene: TRIO
Fetal anomalies v4.36 TRIM71 Achchuthan Shanmugasundram commented on gene: TRIM71
Fetal anomalies v4.36 TRAPPC11 Achchuthan Shanmugasundram commented on gene: TRAPPC11: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 TPO Achchuthan Shanmugasundram commented on gene: TPO
Fetal anomalies v4.36 TP73 Achchuthan Shanmugasundram commented on gene: TP73
Fetal anomalies v4.36 TOR1AIP1 Achchuthan Shanmugasundram commented on gene: TOR1AIP1
Fetal anomalies v4.36 TOP2B Achchuthan Shanmugasundram commented on gene: TOP2B
Fetal anomalies v4.36 TNFRSF11A Achchuthan Shanmugasundram commented on gene: TNFRSF11A
Fetal anomalies v4.36 TMTC3 Achchuthan Shanmugasundram commented on gene: TMTC3
Fetal anomalies v4.36 TMEM218 Achchuthan Shanmugasundram commented on gene: TMEM218
Fetal anomalies v4.36 TLL1 Achchuthan Shanmugasundram commented on gene: TLL1
Fetal anomalies v4.36 TLK2 Achchuthan Shanmugasundram commented on gene: TLK2
Fetal anomalies v4.36 THOC2 Achchuthan Shanmugasundram commented on gene: THOC2: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v4.36 TG Achchuthan Shanmugasundram commented on gene: TG
Fetal anomalies v4.36 TBX22 Achchuthan Shanmugasundram commented on gene: TBX22
Fetal anomalies v4.36 TBC1D1 Achchuthan Shanmugasundram commented on gene: TBC1D1
Fetal anomalies v4.36 TAOK1 Achchuthan Shanmugasundram commented on gene: TAOK1
Fetal anomalies v4.36 SZT2 Achchuthan Shanmugasundram commented on gene: SZT2
Fetal anomalies v4.36 SYT2 Achchuthan Shanmugasundram commented on gene: SYT2
Fetal anomalies v4.36 STT3B Achchuthan Shanmugasundram commented on gene: STT3B: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 STT3A Achchuthan Shanmugasundram commented on gene: STT3A
Fetal anomalies v4.36 STK4 Achchuthan Shanmugasundram commented on gene: STK4
Fetal anomalies v4.36 STIM1 Achchuthan Shanmugasundram commented on gene: STIM1: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 STAT3 Achchuthan Shanmugasundram commented on gene: STAT3
Fetal anomalies v4.36 SPTB Achchuthan Shanmugasundram commented on gene: SPTB
Fetal anomalies v4.36 SPTA1 Achchuthan Shanmugasundram commented on gene: SPTA1
Fetal anomalies v4.36 SPRED2 Achchuthan Shanmugasundram commented on gene: SPRED2
Fetal anomalies v4.36 SPINT2 Achchuthan Shanmugasundram commented on gene: SPINT2
Fetal anomalies v4.36 SPEN Achchuthan Shanmugasundram commented on gene: SPEN
Fetal anomalies v4.36 SOX11 Achchuthan Shanmugasundram commented on gene: SOX11
Fetal anomalies v4.36 SNAP29 Achchuthan Shanmugasundram commented on gene: SNAP29
Fetal anomalies v4.36 SMARCD1 Achchuthan Shanmugasundram commented on gene: SMARCD1
Fetal anomalies v4.36 SMARCAL1 Achchuthan Shanmugasundram commented on gene: SMARCAL1
Fetal anomalies v4.36 SMAD6 Achchuthan Shanmugasundram commented on gene: SMAD6
Fetal anomalies v4.36 SMAD2 Achchuthan Shanmugasundram commented on gene: SMAD2
Fetal anomalies v4.36 SLC5A5 Achchuthan Shanmugasundram commented on gene: SLC5A5: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 SLC4A1 Achchuthan Shanmugasundram commented on gene: SLC4A1
Fetal anomalies v4.36 SLC25A26 Achchuthan Shanmugasundram commented on gene: SLC25A26
Fetal anomalies v4.36 SLC22A5 Achchuthan Shanmugasundram commented on gene: SLC22A5
Fetal anomalies v4.36 SLC20A1 Achchuthan Shanmugasundram commented on gene: SLC20A1
Fetal anomalies v4.36 SKIV2L Achchuthan Shanmugasundram commented on gene: SKIV2L
Fetal anomalies v4.36 SIN3A Achchuthan Shanmugasundram commented on gene: SIN3A
Fetal anomalies v4.36 SHMT2 Achchuthan Shanmugasundram commented on gene: SHMT2
Fetal anomalies v4.36 SF3B2 Achchuthan Shanmugasundram commented on gene: SF3B2
Fetal anomalies v4.36 SERPINA11 Achchuthan Shanmugasundram commented on gene: SERPINA11
Fetal anomalies v4.36 SEMA3A Achchuthan Shanmugasundram commented on gene: SEMA3A
Fetal anomalies v4.36 SCNN1G Achchuthan Shanmugasundram commented on gene: SCNN1G
Fetal anomalies v4.36 SCNN1B Achchuthan Shanmugasundram commented on gene: SCNN1B
Fetal anomalies v4.36 SCNN1A Achchuthan Shanmugasundram commented on gene: SCNN1A
Fetal anomalies v4.36 SCN5A Achchuthan Shanmugasundram commented on gene: SCN5A: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v4.36 SCN3A Achchuthan Shanmugasundram commented on gene: SCN3A
Fetal anomalies v4.36 SCAF4 Achchuthan Shanmugasundram commented on gene: SCAF4
Fetal anomalies v4.36 RPL15 Achchuthan Shanmugasundram commented on gene: RPL15
Fetal anomalies v4.36 RNU12 Achchuthan Shanmugasundram commented on gene: RNU12
Fetal anomalies v4.36 RNF125 Achchuthan Shanmugasundram commented on gene: RNF125
Fetal anomalies v4.36 RNF113A Achchuthan Shanmugasundram commented on gene: RNF113A
Fetal anomalies v4.36 RLIM Achchuthan Shanmugasundram commented on gene: RLIM
Fetal anomalies v4.36 RIN2 Achchuthan Shanmugasundram commented on gene: RIN2
Fetal anomalies v4.36 RHOA Achchuthan Shanmugasundram commented on gene: RHOA
Fetal anomalies v4.36 RHEB Achchuthan Shanmugasundram commented on gene: RHEB
Fetal anomalies v4.36 RBP4 Achchuthan Shanmugasundram commented on gene: RBP4: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v4.36 RAP1B Achchuthan Shanmugasundram commented on gene: RAP1B
Fetal anomalies v4.36 RAD51C Achchuthan Shanmugasundram commented on gene: RAD51C
Fetal anomalies v4.36 RAD51 Achchuthan Shanmugasundram commented on gene: RAD51
Fetal anomalies v4.36 RAD50 Achchuthan Shanmugasundram commented on gene: RAD50
Fetal anomalies v4.36 RAB11B Achchuthan Shanmugasundram commented on gene: RAB11B
Fetal anomalies v4.36 QARS Achchuthan Shanmugasundram commented on gene: QARS
Fetal anomalies v4.36 PXDN Achchuthan Shanmugasundram commented on gene: PXDN
Fetal anomalies v4.36 PTPN23 Achchuthan Shanmugasundram commented on gene: PTPN23
Fetal anomalies v4.36 PRR12 Achchuthan Shanmugasundram commented on gene: PRR12
Fetal anomalies v4.36 PRF1 Achchuthan Shanmugasundram commented on gene: PRF1
Fetal anomalies v4.36 PPP3CA Achchuthan Shanmugasundram commented on gene: PPP3CA
Fetal anomalies v4.36 PPP2R3C Achchuthan Shanmugasundram commented on gene: PPP2R3C
Fetal anomalies v4.36 PPP2CA Achchuthan Shanmugasundram commented on gene: PPP2CA
Fetal anomalies v4.36 PPP1R13L Achchuthan Shanmugasundram commented on gene: PPP1R13L
Fetal anomalies v4.36 PPP1R12A Achchuthan Shanmugasundram commented on gene: PPP1R12A
Fetal anomalies v4.36 PPIL1 Achchuthan Shanmugasundram commented on gene: PPIL1
Fetal anomalies v4.36 POLD1 Achchuthan Shanmugasundram commented on gene: POLD1
Fetal anomalies v4.36 PLPBP Achchuthan Shanmugasundram commented on gene: PLPBP
Fetal anomalies v4.36 PLOD3 Achchuthan Shanmugasundram commented on gene: PLOD3: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 PLEC Achchuthan Shanmugasundram commented on gene: PLEC
Fetal anomalies v4.36 PLAA Achchuthan Shanmugasundram commented on gene: PLAA
Fetal anomalies v4.36 PKP2 Achchuthan Shanmugasundram commented on gene: PKP2
Fetal anomalies v4.36 PIGH Achchuthan Shanmugasundram commented on gene: PIGH
Fetal anomalies v4.36 PIDD1 Achchuthan Shanmugasundram commented on gene: PIDD1
Fetal anomalies v4.36 PI4KA Achchuthan Shanmugasundram commented on gene: PI4KA
Fetal anomalies v4.36 PHF21A Achchuthan Shanmugasundram commented on gene: PHF21A
Fetal anomalies v4.36 PHEX Achchuthan Shanmugasundram commented on gene: PHEX
Fetal anomalies v4.36 PGAP1 Achchuthan Shanmugasundram commented on gene: PGAP1
Fetal anomalies v4.36 PDE6D Achchuthan Shanmugasundram commented on gene: PDE6D: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 PDE3A Achchuthan Shanmugasundram commented on gene: PDE3A
Fetal anomalies v4.36 PCDH12 Achchuthan Shanmugasundram commented on gene: PCDH12
Fetal anomalies v4.36 PAX1 Achchuthan Shanmugasundram commented on gene: PAX1
Fetal anomalies v4.36 PARP6 Achchuthan Shanmugasundram commented on gene: PARP6
Fetal anomalies v4.36 PAM16 Achchuthan Shanmugasundram commented on gene: PAM16
Fetal anomalies v4.36 PACS2 Achchuthan Shanmugasundram commented on gene: PACS2
Fetal anomalies v4.36 PACS1 Achchuthan Shanmugasundram commented on gene: PACS1
Fetal anomalies v4.36 OTUD6B Achchuthan Shanmugasundram commented on gene: OTUD6B
Fetal anomalies v4.36 OTUD5 Achchuthan Shanmugasundram commented on gene: OTUD5
Fetal anomalies v4.36 ORAI1 Achchuthan Shanmugasundram commented on gene: ORAI1
Fetal anomalies v4.36 NUP88 Achchuthan Shanmugasundram commented on gene: NUP88: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 NUP188 Achchuthan Shanmugasundram commented on gene: NUP188
Fetal anomalies v4.36 NSRP1 Achchuthan Shanmugasundram commented on gene: NSRP1
Fetal anomalies v4.36 NSD2 Achchuthan Shanmugasundram commented on gene: NSD2
Fetal anomalies v4.36 NPRL3 Achchuthan Shanmugasundram commented on gene: NPRL3
Fetal anomalies v4.36 NPRL2 Achchuthan Shanmugasundram commented on gene: NPRL2
Fetal anomalies v4.36 NPL Achchuthan Shanmugasundram commented on gene: NPL
Fetal anomalies v4.36 NOVA2 Achchuthan Shanmugasundram commented on gene: NOVA2
Fetal anomalies v4.36 NONO Achchuthan Shanmugasundram commented on gene: NONO
Fetal anomalies v4.36 NLRP3 Achchuthan Shanmugasundram commented on gene: NLRP3
Fetal anomalies v4.36 NKX2-6 Achchuthan Shanmugasundram commented on gene: NKX2-6
Fetal anomalies v4.36 NID1 Achchuthan Shanmugasundram commented on gene: NID1: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 NFIB Achchuthan Shanmugasundram commented on gene: NFIB
Fetal anomalies v4.36 NFIA Achchuthan Shanmugasundram commented on gene: NFIA
Fetal anomalies v4.36 NEXN Achchuthan Shanmugasundram commented on gene: NEXN
Fetal anomalies v4.36 NCAPD2 Achchuthan Shanmugasundram commented on gene: NCAPD2
Fetal anomalies v4.36 NAA15 Achchuthan Shanmugasundram commented on gene: NAA15
Fetal anomalies v4.36 MYSM1 Achchuthan Shanmugasundram commented on gene: MYSM1: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 MYOD1 Achchuthan Shanmugasundram commented on gene: MYOD1
Fetal anomalies v4.36 MYBPC3 Achchuthan Shanmugasundram commented on gene: MYBPC3
Fetal anomalies v4.36 MVK Achchuthan Shanmugasundram commented on gene: MVK
Fetal anomalies v4.36 MTX2 Achchuthan Shanmugasundram commented on gene: MTX2: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 MT-TL1 Achchuthan Shanmugasundram commented on gene: MT-TL1
Fetal anomalies v4.36 MT-TE Achchuthan Shanmugasundram commented on gene: MT-TE
Fetal anomalies v4.36 MPZ Achchuthan Shanmugasundram commented on gene: MPZ
Fetal anomalies v4.36 MPDZ Achchuthan Shanmugasundram commented on gene: MPDZ
Fetal anomalies v4.36 MNS1 Achchuthan Shanmugasundram commented on gene: MNS1
Fetal anomalies v4.36 MITF Achchuthan Shanmugasundram commented on gene: MITF
Fetal anomalies v4.36 MINPP1 Achchuthan Shanmugasundram commented on gene: MINPP1
Fetal anomalies v4.36 MGAT2 Achchuthan Shanmugasundram commented on gene: MGAT2
Fetal anomalies v4.36 MED27 Achchuthan Shanmugasundram commented on gene: MED27
Fetal anomalies v4.36 MED25 Achchuthan Shanmugasundram commented on gene: MED25
Fetal anomalies v4.36 MED17 Achchuthan Shanmugasundram commented on gene: MED17
Fetal anomalies v4.36 MCIDAS Achchuthan Shanmugasundram commented on gene: MCIDAS
Fetal anomalies v4.36 MBTPS1 Achchuthan Shanmugasundram commented on gene: MBTPS1: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 MAST1 Achchuthan Shanmugasundram commented on gene: MAST1
Fetal anomalies v4.36 MAPKAPK5 Achchuthan Shanmugasundram commented on gene: MAPKAPK5
Fetal anomalies v4.36 MAPK8IP3 Achchuthan Shanmugasundram commented on gene: MAPK8IP3
Fetal anomalies v4.36 MAPK1 Achchuthan Shanmugasundram commented on gene: MAPK1
Fetal anomalies v4.36 MAP1B Achchuthan Shanmugasundram commented on gene: MAP1B
Fetal anomalies v4.36 MAN2C1 Achchuthan Shanmugasundram commented on gene: MAN2C1
Fetal anomalies v4.36 MAMLD1 Achchuthan Shanmugasundram commented on gene: MAMLD1
Fetal anomalies v4.36 MAB21L1 Achchuthan Shanmugasundram commented on gene: MAB21L1
Fetal anomalies v4.36 LTBP1 Achchuthan Shanmugasundram commented on gene: LTBP1
Fetal anomalies v4.36 LAGE3 Achchuthan Shanmugasundram commented on gene: LAGE3: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 KIF4A Achchuthan Shanmugasundram commented on gene: KIF4A
Fetal anomalies v4.36 KIF21B Achchuthan Shanmugasundram commented on gene: KIF21B
Fetal anomalies v4.36 KIDINS220 Achchuthan Shanmugasundram commented on gene: KIDINS220
Fetal anomalies v4.36 KIAA0825 Achchuthan Shanmugasundram commented on gene: KIAA0825
Fetal anomalies v4.36 KIAA0556 Achchuthan Shanmugasundram commented on gene: KIAA0556
Fetal anomalies v4.36 KDM1A Achchuthan Shanmugasundram commented on gene: KDM1A
Fetal anomalies v4.36 KCNQ1 Achchuthan Shanmugasundram commented on gene: KCNQ1
Fetal anomalies v4.36 KCNJ8 Achchuthan Shanmugasundram commented on gene: KCNJ8
Fetal anomalies v4.36 KCNH1 Achchuthan Shanmugasundram commented on gene: KCNH1
Fetal anomalies v4.36 KAT5 Achchuthan Shanmugasundram commented on gene: KAT5: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 JAM3 Achchuthan Shanmugasundram commented on gene: JAM3
Fetal anomalies v4.36 ITPR1 Achchuthan Shanmugasundram commented on gene: ITPR1
Fetal anomalies v4.36 IRX5 Achchuthan Shanmugasundram commented on gene: IRX5
Fetal anomalies v4.36 IQCE Achchuthan Shanmugasundram commented on gene: IQCE
Fetal anomalies v4.36 INTS1 Achchuthan Shanmugasundram commented on gene: INTS1
Fetal anomalies v4.36 IKZF1 Achchuthan Shanmugasundram commented on gene: IKZF1
Fetal anomalies v4.36 IFT74 Achchuthan Shanmugasundram commented on gene: IFT74
Fetal anomalies v4.36 IFT27 Achchuthan Shanmugasundram commented on gene: IFT27
Fetal anomalies v4.36 HYAL2 Achchuthan Shanmugasundram commented on gene: HYAL2
Fetal anomalies v4.36 HSPA9 Achchuthan Shanmugasundram commented on gene: HSPA9
Fetal anomalies v4.36 HS2ST1 Achchuthan Shanmugasundram commented on gene: HS2ST1
Fetal anomalies v4.36 HOXA2 Achchuthan Shanmugasundram commented on gene: HOXA2: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 HNRNPH2 Achchuthan Shanmugasundram commented on gene: HNRNPH2
Fetal anomalies v4.36 HMX1 Achchuthan Shanmugasundram commented on gene: HMX1
Fetal anomalies v4.36 HMGB1 Achchuthan Shanmugasundram commented on gene: HMGB1
Fetal anomalies v4.36 HK1 Achchuthan Shanmugasundram commented on gene: HK1
Fetal anomalies v4.36 HIST1H4C Achchuthan Shanmugasundram commented on gene: HIST1H4C
Fetal anomalies v4.36 HHAT Achchuthan Shanmugasundram commented on gene: HHAT
Fetal anomalies v4.36 HERC1 Achchuthan Shanmugasundram commented on gene: HERC1
Fetal anomalies v4.36 H3F3A Achchuthan Shanmugasundram commented on gene: H3F3A
Fetal anomalies v4.36 GTPBP2 Achchuthan Shanmugasundram commented on gene: GTPBP2
Fetal anomalies v4.36 GRM7 Achchuthan Shanmugasundram commented on gene: GRM7
Fetal anomalies v4.36 GPX4 Achchuthan Shanmugasundram commented on gene: GPX4: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v4.36 GLMN Achchuthan Shanmugasundram commented on gene: GLMN
Fetal anomalies v4.36 GHR Achchuthan Shanmugasundram commented on gene: GHR
Fetal anomalies v4.36 GFRA1 Achchuthan Shanmugasundram commented on gene: GFRA1
Fetal anomalies v4.36 GDF11 Achchuthan Shanmugasundram commented on gene: GDF11
Fetal anomalies v4.36 GATA5 Achchuthan Shanmugasundram commented on gene: GATA5
Fetal anomalies v4.36 GATA1 Achchuthan Shanmugasundram commented on gene: GATA1
Fetal anomalies v4.36 GABRB2 Achchuthan Shanmugasundram commented on gene: GABRB2
Fetal anomalies v4.36 G6PD Achchuthan Shanmugasundram commented on gene: G6PD
Fetal anomalies v4.36 FRMPD4 Achchuthan Shanmugasundram commented on gene: FRMPD4
Fetal anomalies v4.36 FRA10AC1 Achchuthan Shanmugasundram commented on gene: FRA10AC1
Fetal anomalies v4.36 FOXJ1 Achchuthan Shanmugasundram commented on gene: FOXJ1
Fetal anomalies v4.36 FGF9 Achchuthan Shanmugasundram commented on gene: FGF9
Fetal anomalies v4.36 FBXW11 Achchuthan Shanmugasundram commented on gene: FBXW11: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 FBRSL1 Achchuthan Shanmugasundram commented on gene: FBRSL1
Fetal anomalies v4.36 FAT1 Achchuthan Shanmugasundram commented on gene: FAT1
Fetal anomalies v4.36 FAM149B1 Achchuthan Shanmugasundram commented on gene: FAM149B1
Fetal anomalies v4.36 EXOSC9 Achchuthan Shanmugasundram commented on gene: EXOSC9
Fetal anomalies v4.36 EXOSC8 Achchuthan Shanmugasundram commented on gene: EXOSC8
Fetal anomalies v4.36 EXOSC5 Achchuthan Shanmugasundram commented on gene: EXOSC5
Fetal anomalies v4.36 EXOC7 Achchuthan Shanmugasundram commented on gene: EXOC7
Fetal anomalies v4.36 ERGIC1 Achchuthan Shanmugasundram commented on gene: ERGIC1
Fetal anomalies v4.36 ERBB3 Achchuthan Shanmugasundram commented on gene: ERBB3
Fetal anomalies v4.36 EN1 Achchuthan Shanmugasundram commented on gene: EN1: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v4.36 EMC1 Achchuthan Shanmugasundram commented on gene: EMC1
Fetal anomalies v4.36 EIF3F Achchuthan Shanmugasundram commented on gene: EIF3F
Fetal anomalies v4.36 EFEMP2 Achchuthan Shanmugasundram commented on gene: EFEMP2
Fetal anomalies v4.36 EEF2 Achchuthan Shanmugasundram commented on gene: EEF2
Fetal anomalies v4.36 EDN3 Achchuthan Shanmugasundram commented on gene: EDN3
Fetal anomalies v4.36 DYNC1I2 Achchuthan Shanmugasundram commented on gene: DYNC1I2
Fetal anomalies v4.36 DYNC1I1 Achchuthan Shanmugasundram commented on gene: DYNC1I1
Fetal anomalies v4.36 DPH1 Achchuthan Shanmugasundram commented on gene: DPH1
Fetal anomalies v4.36 DPF2 Achchuthan Shanmugasundram commented on gene: DPF2
Fetal anomalies v4.36 DOCK7 Achchuthan Shanmugasundram commented on gene: DOCK7: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 DNAJC19 Achchuthan Shanmugasundram commented on gene: DNAJC19
Fetal anomalies v4.36 DLL1 Achchuthan Shanmugasundram commented on gene: DLL1
Fetal anomalies v4.36 DICER1 Achchuthan Shanmugasundram commented on gene: DICER1
Fetal anomalies v4.36 DEPDC5 Achchuthan Shanmugasundram commented on gene: DEPDC5
Fetal anomalies v4.36 DEAF1 Achchuthan Shanmugasundram commented on gene: DEAF1
Fetal anomalies v4.36 DDX6 Achchuthan Shanmugasundram commented on gene: DDX6
Fetal anomalies v4.36 DCC Achchuthan Shanmugasundram commented on gene: DCC: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v4.36 D2HGDH Achchuthan Shanmugasundram commented on gene: D2HGDH
Fetal anomalies v4.36 CYBB Achchuthan Shanmugasundram commented on gene: CYBB: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v4.36 CWF19L1 Achchuthan Shanmugasundram commented on gene: CWF19L1
Fetal anomalies v4.36 CTNNA2 Achchuthan Shanmugasundram commented on gene: CTNNA2: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v4.36 CTDP1 Achchuthan Shanmugasundram commented on gene: CTDP1
Fetal anomalies v4.36 CPAMD8 Achchuthan Shanmugasundram commented on gene: CPAMD8
Fetal anomalies v4.36 COLGALT1 Achchuthan Shanmugasundram commented on gene: COLGALT1
Fetal anomalies v4.36 COL9A3 Achchuthan Shanmugasundram commented on gene: COL9A3
Fetal anomalies v4.36 COL27A1 Achchuthan Shanmugasundram commented on gene: COL27A1
Fetal anomalies v4.36 COL25A1 Achchuthan Shanmugasundram commented on gene: COL25A1
Fetal anomalies v4.36 COA7 Achchuthan Shanmugasundram commented on gene: COA7
Fetal anomalies v4.36 CLTC Achchuthan Shanmugasundram commented on gene: CLTC
Fetal anomalies v4.36 CLMP Achchuthan Shanmugasundram commented on gene: CLMP
Fetal anomalies v4.36 CLCNKB Achchuthan Shanmugasundram commented on gene: CLCNKB
Fetal anomalies v4.36 CITED2 Achchuthan Shanmugasundram commented on gene: CITED2: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 CFAP52 Achchuthan Shanmugasundram commented on gene: CFAP52
Fetal anomalies v4.36 CFAP45 Achchuthan Shanmugasundram commented on gene: CFAP45
Fetal anomalies v4.36 CEP85L Achchuthan Shanmugasundram commented on gene: CEP85L
Fetal anomalies v4.36 CELSR1 Achchuthan Shanmugasundram commented on gene: CELSR1
Fetal anomalies v4.36 CCDC22 Achchuthan Shanmugasundram commented on gene: CCDC22
Fetal anomalies v4.36 CAPN15 Achchuthan Shanmugasundram commented on gene: CAPN15
Fetal anomalies v4.36 CALCRL Achchuthan Shanmugasundram commented on gene: CALCRL
Fetal anomalies v4.36 CACNA1D Achchuthan Shanmugasundram commented on gene: CACNA1D
Fetal anomalies v4.36 CACNA1A Achchuthan Shanmugasundram commented on gene: CACNA1A
Fetal anomalies v4.36 C2orf69 Achchuthan Shanmugasundram commented on gene: C2orf69
Fetal anomalies v4.36 C12orf57 Achchuthan Shanmugasundram commented on gene: C12orf57
Fetal anomalies v4.36 BRF1 Achchuthan Shanmugasundram commented on gene: BRF1: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 BRD4 Achchuthan Shanmugasundram commented on gene: BRD4
Fetal anomalies v4.36 BRCA1 Achchuthan Shanmugasundram commented on gene: BRCA1
Fetal anomalies v4.36 BCAS3 Achchuthan Shanmugasundram commented on gene: BCAS3
Fetal anomalies v4.36 B9D1 Achchuthan Shanmugasundram commented on gene: B9D1
Fetal anomalies v4.36 AUTS2 Achchuthan Shanmugasundram commented on gene: AUTS2
Fetal anomalies v4.36 ATP6V1B2 Achchuthan Shanmugasundram commented on gene: ATP6V1B2
Fetal anomalies v4.36 ATP1A3 Achchuthan Shanmugasundram commented on gene: ATP1A3
Fetal anomalies v4.36 ATP11C Achchuthan Shanmugasundram commented on gene: ATP11C
Fetal anomalies v4.36 ATN1 Achchuthan Shanmugasundram commented on gene: ATN1
Fetal anomalies v4.36 ATAD1 Achchuthan Shanmugasundram commented on gene: ATAD1
Fetal anomalies v4.36 ASXL2 Achchuthan Shanmugasundram commented on gene: ASXL2: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 ARL3 Achchuthan Shanmugasundram commented on gene: ARL3
Fetal anomalies v4.36 ARID2 Achchuthan Shanmugasundram commented on gene: ARID2
Fetal anomalies v4.36 ARF1 Achchuthan Shanmugasundram commented on gene: ARF1
Fetal anomalies v4.36 APC2 Achchuthan Shanmugasundram commented on gene: APC2
Fetal anomalies v4.36 AP4S1 Achchuthan Shanmugasundram commented on gene: AP4S1
Fetal anomalies v4.36 AP4M1 Achchuthan Shanmugasundram commented on gene: AP4M1
Fetal anomalies v4.36 AP4B1 Achchuthan Shanmugasundram commented on gene: AP4B1
Fetal anomalies v4.36 ANKRD17 Achchuthan Shanmugasundram commented on gene: ANKRD17
Fetal anomalies v4.36 ANKLE2 Achchuthan Shanmugasundram commented on gene: ANKLE2
Fetal anomalies v4.36 ANGPT2 Achchuthan Shanmugasundram commented on gene: ANGPT2: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v4.36 AMBRA1 Achchuthan Shanmugasundram commented on gene: AMBRA1
Fetal anomalies v4.36 ALPK3 Achchuthan Shanmugasundram commented on gene: ALPK3
Fetal anomalies v4.36 ALG14 Achchuthan Shanmugasundram commented on gene: ALG14
Fetal anomalies v4.36 ALDH1A2 Achchuthan Shanmugasundram commented on gene: ALDH1A2
Fetal anomalies v4.36 ALB Achchuthan Shanmugasundram commented on gene: ALB
Fetal anomalies v4.36 AIMP1 Achchuthan Shanmugasundram commented on gene: AIMP1
Fetal anomalies v4.36 AGT Achchuthan Shanmugasundram commented on gene: AGT
Fetal anomalies v4.36 AFF3 Achchuthan Shanmugasundram commented on gene: AFF3
Fetal anomalies v4.36 ADCY6 Achchuthan Shanmugasundram commented on gene: ADCY6
Fetal anomalies v4.36 ADAMTS19 Achchuthan Shanmugasundram commented on gene: ADAMTS19: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 ACVRL1 Achchuthan Shanmugasundram commented on gene: ACVRL1
Fetal anomalies v4.36 ACVR1 Achchuthan Shanmugasundram commented on gene: ACVR1
Fetal anomalies v4.36 ACSL4 Achchuthan Shanmugasundram commented on gene: ACSL4
Fetal anomalies v4.36 ABHD16A Achchuthan Shanmugasundram commented on gene: ABHD16A
Fetal anomalies v4.36 AARS Achchuthan Shanmugasundram commented on gene: AARS
Fetal anomalies v4.35 ZNHIT3 Lyn Chitty reviewed gene: ZNHIT3: Rating: RED; Mode of pathogenicity: ; Publications: 28335020, 31048081; Phenotypes: PEHO syndrome, OMIM:260565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ZNF699 Samantha Doyle reviewed gene: ZNF699: Rating: GREEN; Mode of pathogenicity: ; Publications: 33875846; Phenotypes: DEGCAGS syndrome, OMIM:619488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ZNF526 Natalie Canham reviewed gene: ZNF526: Rating: GREEN; Mode of pathogenicity: ; Publications: 33397746, 21937992, 25558065; Phenotypes: Dystonia, Hypertonia, Intellectual disability, Cataracts, Microcephaly, Epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ZNF462 Natalie Bibb reviewed gene: ZNF462: Rating: GREEN; Mode of pathogenicity: ; Publications: 28513610, 31361404; Phenotypes: Weiss-Kruszka syndrome, OMIM:618619; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ZNF335 Anna de Burca reviewed gene: ZNF335: Rating: GREEN; Mode of pathogenicity: ; Publications: 23178126, 34982360, 29652087, 27540107; Phenotypes: Microcephaly 10, primary, autosomal recessive, OMIM:615095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ZMYM2 Esther Kinning reviewed gene: ZMYM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32891193; Phenotypes: Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, OMIM:619522; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ZMIZ1 Denise Williams reviewed gene: ZMIZ1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30639322, 31879022; Phenotypes: Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, OMIM:618659; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ZFPM2 Achchuthan Shanmugasundram reviewed gene: ZFPM2: Rating: AMBER; Mode of pathogenicity: ; Publications: 16103912, 10892744, 24702427, 21919901, 14517948, 17568391; Phenotypes: Tetralogy of Fallot, OMIM:187500, Diaphragmatic hernia 3, OMIM:610187; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ZBTB24 Stephanie Allen reviewed gene: ZBTB24: Rating: AMBER; Mode of pathogenicity: ; Publications: 21596365, 21906047, 32061411, 29023266, 32865561, 22786748, 23739126, 28128455; Phenotypes: Immunodeficiency-centromeric instability-facial anomalies syndrome 2, OMIM:614069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 YRDC Samantha Doyle reviewed gene: YRDC: Rating: RED; Mode of pathogenicity: ; Publications: 31481669, 34545459; Phenotypes: Galloway-Mowat syndrome 10, OMIM:619609; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 YIPF5 Lyn Chitty reviewed gene: YIPF5: Rating: RED; Mode of pathogenicity: ; Publications: 33164986; Phenotypes: Microcephaly, epilepsy, and diabetes syndrome 2, OMIM:619278; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 YIF1B Samantha Doyle reviewed gene: YIF1B: Rating: AMBER; Mode of pathogenicity: ; Publications: 26077767, 32006098; Phenotypes: Kaya-Barakat-Masson syndrome, OMIM:619125; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 YAP1 Natalie Canham reviewed gene: YAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 24462371, 28801591, 27267789; Phenotypes: Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, OMIM:120433; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 WWOX Natalie Bibb reviewed gene: WWOX: Rating: GREEN; Mode of pathogenicity: ; Publications: 33916893; Phenotypes: Developmental and epileptic encephalopathy 28, OMIM:616211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 WDR4 Esther Kinning reviewed gene: WDR4: Rating: GREEN; Mode of pathogenicity: ; Publications: 28617965, 26416026; Phenotypes: Microcephaly, growth deficiency, seizures, and brain malformations, OMIM:618346; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 WDR37 Denise Williams reviewed gene: WDR37: Rating: GREEN; Mode of pathogenicity: ; Publications: 31327508, 31327510; Phenotypes: Neurooculocardiogenitourinary syndrome, OMIM:618652; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 VPS4A Achchuthan Shanmugasundram reviewed gene: VPS4A: Rating: GREEN; Mode of pathogenicity: ; Publications: 33186543, 33186545; Phenotypes: CIMDAG syndrome MIM# 619273; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 UNC13D Esther Kinning reviewed gene: UNC13D: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Familial Hemophagocytic Lymphohistiocytosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 UBR7 Stephanie Allen reviewed gene: UBR7: Rating: GREEN; Mode of pathogenicity: ; Publications: 33340455; Phenotypes: Li-Campeau syndrome, OMIM:619189; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 UBA2 Samantha Doyle reviewed gene: UBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31332306, 31587267; Phenotypes: Split-Hand/Foot Malformation, Aplasia Cutis Congenita, Ectrodactyly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 TUBGCP2 Lyn Chitty reviewed gene: TUBGCP2: Rating: AMBER; Mode of pathogenicity: ; Publications: 31630790; Phenotypes: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM:618737; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 TTI2 Samantha Doyle reviewed gene: TTI2: Rating: RED; Mode of pathogenicity: ; Publications: 32061250, 31737043, 23956177; Phenotypes: Mental retardation, autosomal recessive 39, OMIM:615541, Microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 TSHR Natalie Canham reviewed gene: TSHR: Rating: RED; Mode of pathogenicity: ; Publications: 18655531, 15163335, 23295291, 9360555, 7800007; Phenotypes: Hyperthyroidism, nonautoimmune, OMIM:609152, Hypothyroidism, congenital, nongoitrous, 1, OMIM:275200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 TSEN15 Natalie Bibb reviewed gene: TSEN15: Rating: GREEN; Mode of pathogenicity: ; Publications: 30914295, 25558065, 27392077; Phenotypes: Pontocerebellar hypoplasia, type 2F, OMIM:617026; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 TRRAP Anna de Burca reviewed gene: TRRAP: Rating: GREEN; Mode of pathogenicity: ; Publications: 30827496; Phenotypes: multiple congenital anomalies, Developmental delay with or without dysmorphic facies and autism, OMIM:618454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 TRNT1 Denise Williams reviewed gene: TRNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: 29055896, 33082562; Phenotypes: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM:616084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 TRIO Esther Kinning reviewed gene: TRIO: Rating: AMBER; Mode of pathogenicity: ; Publications: 32109419, 26721934; Phenotypes: Mental retardation, autosomal dominant 44, OMIM:617061; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 TRIM71 Denise Williams reviewed gene: TRIM71: Rating: GREEN; Mode of pathogenicity: ; Publications: 32168371, 29983323, 30975633; Phenotypes: Hydrocephalus, congenital communicating, 1, OMIM:618667; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 TRAPPC11 Achchuthan Shanmugasundram reviewed gene: TRAPPC11: Rating: AMBER; Mode of pathogenicity: ; Publications: 27862579, 23830518, 26322222, 29855340, 30105108, 27707803, 26912795, 28484880; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 18, OMIM:615356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 TPO Stephanie Allen reviewed gene: TPO: Rating: RED; Mode of pathogenicity: ; Publications: 30662777, 34220711; Phenotypes: Thyroid dyshormonogenesis 2A, OMIM:274500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 TP73 Samantha Doyle reviewed gene: TP73: Rating: GREEN; Mode of pathogenicity: ; Publications: 34077761, 31130284; Phenotypes: Ciliary dyskinesia, primary, 47, and lissencephaly, OMIM:619466; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 TOR1AIP1 Lyn Chitty reviewed gene: TOR1AIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27342937, 24856141, 30723199, 32055997, 33215087, 31299614; Phenotypes: congenital myasthenic syndrome, Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 TOP2B Samantha Doyle reviewed gene: TOP2B: Rating: RED; Mode of pathogenicity: ; Publications: 31409799; Phenotypes: B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, OMIM:609296; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 TNFRSF11A Natalie Canham reviewed gene: TNFRSF11A: Rating: AMBER; Mode of pathogenicity: ; Publications: 18606301, 32048120; Phenotypes: Osteopetrosis, autosomal recessive 7, OMIM:612301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 TMTC3 Natalie Bibb reviewed gene: TMTC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 27773428, 28973161; Phenotypes: Lissencephaly 8, OMIM:617255; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 TMEM218 Anna de Burca reviewed gene: TMEM218: Rating: GREEN; Mode of pathogenicity: ; Publications: 25161209, 33791682; Phenotypes: Joubert syndrome 39, OMIM:619562; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 TLL1 Esther Kinning reviewed gene: TLL1: Rating: AMBER; Mode of pathogenicity: ; Publications: 18830233, 31570783, 27418595, 30538173; Phenotypes: congenital heart disease, Atrial septal defect 6, OMIM:613087; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 TLK2 Denise Williams reviewed gene: TLK2: Rating: AMBER; Mode of pathogenicity: ; Publications: 34821460, 31558842, 29861108; Phenotypes: Intellectual developmental disorder, autosomal dominant 57, OMIM:618050; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v4.35 THOC2 Achchuthan Shanmugasundram reviewed gene: THOC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32116545, 26166480, 32960281, 29851191; Phenotypes: Mental retardation, X-linked 12/35 MIM#300957; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.35 TG Stephanie Allen reviewed gene: TG: Rating: RED; Mode of pathogenicity: ; Publications: 28620499, 19169491, 18631008, 33832185, 12915634; Phenotypes: Thyroid dyshormonogenesis 3, OMIM:274700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 TBX22 Samantha Doyle reviewed gene: TBX22: Rating: AMBER; Mode of pathogenicity: ; Publications: 22784330, 14729838, 17868388, 11559848, 12374769; Phenotypes: Abruzzo-Erickson syndrome, OMIM:302905, Cleft palate with ankyloglossia, OMIM:303400; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v4.35 TBC1D1 Lyn Chitty reviewed gene: TBC1D1: Rating: AMBER; Mode of pathogenicity: ; Publications: 26572137; Phenotypes: CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 TAOK1 Samantha Doyle reviewed gene: TAOK1: Rating: RED; Mode of pathogenicity: ; Publications: 31230721, 35091509, 33565190; Phenotypes: Developmental delay with or without intellectual impairment or behavioral abnormalities, OMIM:619575; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 SZT2 Natalie Canham reviewed gene: SZT2: Rating: AMBER; Mode of pathogenicity: ; Publications: 32402703, 30560016, 30359774, 28556953, 23932106; Phenotypes: Developmental and epileptic encephalopathy 18, OMIM:615476; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 SYT2 Natalie Bibb reviewed gene: SYT2: Rating: AMBER; Mode of pathogenicity: ; Publications: 30533528, 25192047, 32250532, 32776697; Phenotypes: Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive, OMIM:619461, Myasthenic syndrome, congenital, 7, presynaptic, OMIM:616040; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.35 STT3B Achchuthan Shanmugasundram reviewed gene: STT3B: Rating: RED; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Congenital disorder of glycosylation, type Ix, OMIM:615597; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 STT3A Esther Kinning reviewed gene: STT3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 28424003, 30701557, 34653363, 23842455; Phenotypes: Congenital disorder of glycosylation, type Iw, autosomal recessive, OMIM:615596, Congenital disorder of glycosylation, type Iw, autosomal dominant, OMIM:619714; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.35 STK4 Denise Williams reviewed gene: STK4: Rating: RED; Mode of pathogenicity: ; Publications: 22294732, 26117625, 22174160, 22952854; Phenotypes: T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, OMIM:614868; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 STIM1 Achchuthan Shanmugasundram reviewed gene: STIM1: Rating: AMBER; Mode of pathogenicity: ; Publications: 20876309, 31448844; Phenotypes: Myopathy, tubular aggregate, OMIM:160565, Immunodeficiency 10, OMIM:612783, Stormorken syndrome, OMIM:185070; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal