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Congenital muscular dystrophy v3.67 LARGE1 Arina Puzriakova Source was removed from LARGE1.
Congenital muscular dystrophy v3.66 LARGE1 Arina Puzriakova Phenotypes for gene: LARGE1 were changed from Congenital Muscular Dystrophy, alpha-dystroglycan related; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, OMIM:613154; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6, OMIM:608840
Congenital muscular dystrophy v1.44 LARGE1 Louise Daugherty Publications for gene LARGE1 were changed from to 12966029
Congenital muscular dystrophy v1.43 LARGE1 Louise Daugherty edited their review of gene: LARGE1: Added comment: Initial gene list (Congenital Muscular Dystrophy Gene Panel 207-London South GLH.xlsx) collated by Rachael Mein, Viapath Guy's Hospital February 2019 on behalf of London South GLH for the GMS Neurology specialist test group.; Changed rating: AMBER
Congenital muscular dystrophy v1.24 LARGE1 Rachael Mein reviewed gene: LARGE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 12966029; Phenotypes: Congenital Muscular Dystrophy, alpha-dystroglycan related, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.23 LARGE1 Louise Daugherty Source NHS GMS was added to LARGE1.
Congenital muscular dystrophy v1.22 LARGE1 Louise Daugherty Source London South GLH was added to LARGE1.