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Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.21 GBE1 Arina Puzriakova Phenotypes for gene: GBE1 were changed from Glycogen storage disease IV, 232500 to Glycogen storage disease IV, OMIM:232500
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.172 GBE1 Ellen McDonagh Marked gene: GBE1 as ready
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.172 GBE1 Ellen McDonagh Gene: gbe1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.172 GBE1 Ellen McDonagh Classified gene: GBE1 as Red List (low evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.172 GBE1 Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.172 GBE1 Ellen McDonagh Gene: gbe1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 GBE1 Chiara Marini Bettolo reviewed gene: GBE1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 GBE1 Louise Daugherty Source NHS GMS was added to GBE1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 GBE1 Louise Daugherty Source Yorkshire and North East GLH was added to GBE1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 GBE1 Louise Daugherty Mode of inheritance for gene GBE1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Glycogen storage disease IV, 232500 for gene: GBE1
Publications for gene GBE1 were changed from to 8613547
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 GBE1 Ana Topf reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8613547; Phenotypes: Glycogen storage disease IV, 232500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 GBE1 Louise Daugherty gene: GBE1 was added
gene: GBE1 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: GBE1 was set to