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Genetic Epilepsy v0.886 SETD1A Zornitza Stark Phenotypes for gene: SETD1A were changed from Epilepsy to Epilepsy, early-onset, with or without developmental delay, MIM# 618832; Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM# 619056
Genetic Epilepsy v0.885 SETD1A Zornitza Stark Publications for gene: SETD1A were set to 31197650
Genetic Epilepsy v0.884 SETD1A Zornitza Stark edited their review of gene: SETD1A: Added comment: OMIM has assigned a second phenotype in relation to the syndromic ID cohort reported in PMID 32346159. All variants were predicted to disrupt or delete the SET catalytic domain, and LOF is the established mechanism.

In addition, there are 4 families reported with a predominantly seizure phenotype without ID, PMID 31197650. All the variants are missense and mechanism of pathogenicity is not clearly established, hence it is difficult to know whether these are two distinct conditions or part of a spectrum of severity for SETD1A-related disorders.; Changed phenotypes: Epilepsy, early-onset, with or without developmental delay, MIM# 618832, Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM# 619056
Genetic Epilepsy v0.884 SETD1A Zornitza Stark changed review comment from: Four unrelated families reported: in three, the variants occurred de novo, and in the fourth, it segregated with disease. Some functional data.
Sources: Literature; to: PMID: 31197650. Four unrelated families reported: in three, the variants occurred de novo, and in the fourth, it segregated with disease. Some functional data.
Sources: Literature
Genetic Epilepsy v0.874 SETD1A Zornitza Stark edited their review of gene: SETD1A: Added comment: PMID 32346159: Described 15 individuals with de novo SETD1A variants presenting with global developmental delay and/or intellectual disability, subtle facial dysmorphisms, behavioral and psychiatric problems. Examined cellular phenotypes in three patient-derived cell lines with three variants: p.Gly535Alafs*12, c.4582-2_4582delAG, and p.Tyr1499Asp and results suggested that that these variants behave as loss-of-function (LoF) alleles.; Changed publications: 31197650, 32346159; Changed phenotypes: Epilepsy, Intellectual disability
Genetic Epilepsy v0.135 SETD1A Zornitza Stark Marked gene: SETD1A as ready
Genetic Epilepsy v0.135 SETD1A Zornitza Stark Gene: setd1a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.135 SETD1A Zornitza Stark Classified gene: SETD1A as Green List (high evidence)
Genetic Epilepsy v0.135 SETD1A Zornitza Stark Gene: setd1a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.134 SETD1A Zornitza Stark gene: SETD1A was added
gene: SETD1A was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: SETD1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SETD1A were set to 31197650
Phenotypes for gene: SETD1A were set to Epilepsy
Review for gene: SETD1A was set to GREEN
Added comment: Four unrelated families reported: in three, the variants occurred de novo, and in the fourth, it segregated with disease. Some functional data.
Sources: Literature