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Congenital muscular dystrophy v3.82 | POMT2 | Arina Puzriakova Source was removed from POMT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v3.81 | POMT2 | Arina Puzriakova Phenotypes for gene: POMT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, OMIM:613150; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2, OMIM:613156 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v1.44 | POMT2 | Louise Daugherty Publications for gene POMT2 were changed from to 15894594; 17559086 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v1.43 | POMT2 | Louise Daugherty reviewed gene: POMT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v1.24 | POMT2 | Rachael Mein reviewed gene: POMT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15894594, 17559086; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v1.23 | POMT2 | Louise Daugherty Source NHS GMS was added to POMT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v1.22 | POMT2 |
Louise Daugherty Source London South GLH was added to POMT2. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Congenital muscular dystrophy | POMT2 | Ellen McDonagh marked POMT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy | POMT2 | Ellen McDonagh commented on POMT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy | POMT2 | Emma Clement reviewed POMT2 |