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Congenital muscular dystrophy v3.74 | POMGNT1 | Arina Puzriakova Source was removed from POMGNT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v3.73 | POMGNT1 | Arina Puzriakova Phenotypes for gene: POMGNT1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 613151; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 613157 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, OMIM:253280; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 3, OMIM:613151 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v1.44 | POMGNT1 | Louise Daugherty Publications for gene POMGNT1 were changed from to 11709191; 12588800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v1.43 | POMGNT1 | Louise Daugherty reviewed gene: POMGNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v1.24 | POMGNT1 | Rachael Mein reviewed gene: POMGNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11709191, 12588800; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 613151, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v1.23 | POMGNT1 | Louise Daugherty Source NHS GMS was added to POMGNT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v1.22 | POMGNT1 |
Louise Daugherty Source London South GLH was added to POMGNT1. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Congenital muscular dystrophy | POMGNT1 | Ellen McDonagh marked POMGNT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy | POMGNT1 | Ellen McDonagh commented on POMGNT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy | POMGNT1 | Emma Clement reviewed POMGNT1 |