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Congenital muscular dystrophy v3.60 | ISPD | Arina Puzriakova Source was removed from ISPD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v3.59 | ISPD | Arina Puzriakova Publications for gene: ISPD were set to 22522420, 22522421 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v3.58 | ISPD | Arina Puzriakova Phenotypes for gene: ISPD were changed from Congenital Muscular Dystrophy, alpha-dystroglycan related; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type; Walker-Warburg syndrome (WWS); Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; 614643; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7; 616052 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, OMIM:614643 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v1.44 | ISPD | Louise Daugherty Publications for gene ISPD were changed from to 22522420, 22522421 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v1.43 | ISPD | Louise Daugherty edited their review of gene: ISPD: 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 | ISPD | Rachael Mein reviewed gene: ISPD: Rating: GREEN; Mode of pathogenicity: ; Publications: 22522420, 22522421; Phenotypes: Congenital Muscular Dystrophy, alpha-dystroglycan related, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type, Walker-Warburg syndrome (WWS), Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v1.23 | ISPD | Louise Daugherty Source NHS GMS was added to ISPD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v1.22 | ISPD |
Louise Daugherty Source London South GLH was added to ISPD. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Congenital muscular dystrophy v1.21 | ISPD | Louise Daugherty commented on gene: ISPD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v1.21 | ISPD | Louise Daugherty Tag new-gene-name tag was added to gene: ISPD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy | ISPD | Ellen McDonagh marked ISPD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy | ISPD | Ellen McDonagh commented on ISPD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy | ISPD | Emma Clement reviewed ISPD |