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Date Panel Item Activity
8 actions
Intellectual disability v3.421 GJA1 Arina Puzriakova Source Expert Review Red was added to GJA1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.252 GJA1 Arina Puzriakova commented on gene: GJA1
Intellectual disability v3.0 GJA1 Zornitza Stark reviewed gene: GJA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrioventricular septal defect 3, MIM#600309, Craniometaphyseal dysplasia, autosomal recessive, MIM#218400, Erythrokeratodermia variabilis et progressiva 3, MIM#617525, Hypoplastic left heart syndrome 1, MIM#241550, Oculodentodigital dysplasia, MIM#164200, Oculodentodigital dysplasia, autosomal recessive, MIM#257850, Palmoplantar keratoderma with congenital alopecia, MIM#104100, Syndactyly, type III, MIM# 186100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability GJA1 BRIDGE consortium edited their review of GJA1
Intellectual disability GJA1 BRIDGE consortium edited their review of GJA1
Intellectual disability GJA1 Louise Daugherty classified GJA1 as amber
Intellectual disability GJA1 Louise Daugherty commented on GJA1
Intellectual disability GJA1 BRIDGE consortium reviewed GJA1