Activity
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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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||