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Intellectual disability v5.193 SMCHD1 Arina Puzriakova Mode of inheritance for gene: SMCHD1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v3.421 SMCHD1 Arina Puzriakova Source Expert Review Red was added to SMCHD1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.254 SMCHD1 Arina Puzriakova commented on gene: SMCHD1
Intellectual disability v3.3 SMCHD1 Zornitza Stark reviewed gene: SMCHD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bosma arhinia microphthalmia syndrome, OMIM #603457, Fascioscapulohumeral muscular dystrophy 2, digenic, OMIM #158901; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability SMCHD1 BRIDGE consortium edited their review of SMCHD1
Intellectual disability SMCHD1 Louise Daugherty classified SMCHD1 as amber
Intellectual disability SMCHD1 Louise Daugherty commented on SMCHD1
Intellectual disability SMCHD1 BRIDGE consortium reviewed SMCHD1