Activity

Filter

Panel

Version

Gene or Genomic Entity Name

Date from

Date to

Date	Panel	Item	Activity
Filter activities 8 actions
12 Oct 2020	Intellectual disability - microarray and sequencing 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)
17 Aug 2020	Intellectual disability - microarray and sequencing v3.252	GJA1	Arina Puzriakova commented on gene: GJA1
04 Feb 2020	Intellectual disability - microarray and sequencing 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
02 Aug 2017	Intellectual disability - microarray and sequencing	GJA1	BRIDGE consortium edited their review of GJA1
27 Jul 2017	Intellectual disability - microarray and sequencing	GJA1	BRIDGE consortium edited their review of GJA1
20 Jul 2017	Intellectual disability - microarray and sequencing	GJA1	Louise Daugherty classified GJA1 as amber
20 Jul 2017	Intellectual disability - microarray and sequencing	GJA1	Louise Daugherty commented on GJA1
19 Jul 2017	Intellectual disability - microarray and sequencing	GJA1	BRIDGE consortium reviewed GJA1