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Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.149 ISPD Ellen McDonagh Marked gene: ISPD as ready
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.149 ISPD Ellen McDonagh Gene: ispd has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.149 ISPD Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.149 ISPD Ellen McDonagh Mode of inheritance for gene: ISPD was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.148 ISPD Ellen McDonagh Classified gene: ISPD as Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.148 ISPD Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.148 ISPD Ellen McDonagh Gene: ispd has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 ISPD Chiara Marini Bettolo edited their review of gene: ISPD: Added comment: Known as LGMD 2U or LGMDR20 on new nomenclature; Changed rating: GREEN
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.87 ISPD Chiara Marini Bettolo commented on gene: ISPD: this gene is listed on the LGMD classification
https://www.nmd-journal.com/article/S0960-8966(18)30214-1/pdf
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 ISPD Louise Daugherty Source Yorkshire and North East GLH was added to ISPD.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 ISPD Chiara Marini Bettolo reviewed gene: ISPD: Rating: ; Mode of pathogenicity: None; Publications: 23390185; Phenotypes: congenital muscular dystrophy, limb girdle muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 ISPD Louise Daugherty edited their review of gene: ISPD: Added comment: Review and rating from Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.; Changed rating: AMBER
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.33 ISPD Louise Daugherty Phenotypes for gene: ISPD were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052 to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052; congenital muscular dystrophy; limb girdle muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.32 ISPD Louise Daugherty Publications for gene: ISPD were set to 23390185
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 ISPD Natalie Forrester reviewed gene: ISPD: Rating: AMBER; Mode of pathogenicity: ; Publications: 23390185, 23288328; Phenotypes: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 ISPD Louise Daugherty Source NHS GMS was added to ISPD.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 ISPD Louise Daugherty Source South West GLH was added to ISPD.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 ISPD Elizabeth Harris reviewed gene: ISPD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23390185; Phenotypes: congenital muscular dystrophy, limb girdle muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.13 ISPD Louise Daugherty commented on gene: ISPD
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.13 ISPD Louise Daugherty Tag new-gene-name tag was added to gene: ISPD.