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Intellectual disability syndromic and non-syndromic v1.69 SIN3B Zornitza Stark Phenotypes for gene: SIN3B were changed from Syndromic intellectual disability/autism spectrum disorder to Neurodevelopmental disorder, MONDO:0700092, SIN3B-related
Intellectual disability syndromic and non-syndromic v1.68 SIN3B Zornitza Stark reviewed gene: SIN3B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, SIN3B-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3745 SIN3B Zornitza Stark Marked gene: SIN3B as ready
Intellectual disability syndromic and non-syndromic v0.3745 SIN3B Zornitza Stark Gene: sin3b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3745 SIN3B Zornitza Stark Mode of inheritance for gene: SIN3B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3744 SIN3B Zornitza Stark Classified gene: SIN3B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3744 SIN3B Zornitza Stark Gene: sin3b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3730 SIN3B Elena Savva gene: SIN3B was added
gene: SIN3B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SIN3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SIN3B were set to PMID: 33811806
Phenotypes for gene: SIN3B were set to Syndromic intellectual disability/autism spectrum disorder
Review for gene: SIN3B was set to GREEN
Added comment: PMID: 33811806
- 9 affected patients, all de novo (2 PTCs, 2 missense, multigenic CNVs)
- syndrome hallmarked by intellectual disability, developmental delay, and dysmorphic facial features with variably penetrant ASD, congenital malformations, corpus callosum defects, and impaired growth.
- All SNV carriers had mild/mod ID
Sources: Literature