Activity

Filter

Cancel
Date Panel Item Activity
9 actions
Hereditary ataxia, adult onset v8.4 SYNGAP1 Arina Puzriakova Phenotypes for gene: SYNGAP1 were changed from Autosomal dominant mental retardation 5, 612621 to Intellectual developmental disorder, autosomal dominant 5, OMIM:612621
Hereditary ataxia, adult onset v1.95 SYNGAP1 Louise Daugherty Mode of inheritance for gene: SYNGAP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia, adult onset v1.94 SYNGAP1 Louise Daugherty Classified gene: SYNGAP1 as Green List (high evidence)
Hereditary ataxia, adult onset v1.94 SYNGAP1 Louise Daugherty Gene: syngap1 has been classified as Green List (High Evidence).
Hereditary ataxia, adult onset v1.9 SYNGAP1 Louise Daugherty Added phenotypes Autosomal dominant mental retardation 5, 612621 for gene: SYNGAP1
Hereditary ataxia, adult onset v1.8 SYNGAP1 Louise Daugherty reviewed gene: SYNGAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia, adult onset v1.7 SYNGAP1 Tracy Lester reviewed gene: SYNGAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal dominant mental retardation 5, 612621; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia, adult onset v1.2 SYNGAP1 Louise Daugherty Source NHS GMS was added to SYNGAP1.
Hereditary ataxia, adult onset v1.1 SYNGAP1 Louise Daugherty gene: SYNGAP1 was added
gene: SYNGAP1 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: SYNGAP1 was set to