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Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.13 SELENON Achchuthan Shanmugasundram changed review comment from: Several patients with SEPN1(SELENON)-related myopathy have been reported with limb girdle weakness/ dystrophy.; to: Sufficient cases with SEPN1(SELENON)-related myopathy have been reported with limb girdle weakness/ dystrophy.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.13 SELENON Achchuthan Shanmugasundram Publications for gene: SELENON were set to 15122708; 11528383
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.12 SELENON Achchuthan Shanmugasundram reviewed gene: SELENON: Rating: GREEN; Mode of pathogenicity: None; Publications: 15668457, 27863379, 28558865, 29850975, 30642275, 32796131; Phenotypes: Congenital myopathy 3 with rigid spine, OMIM:602771; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.12 SELENON Achchuthan Shanmugasundram Phenotypes for gene: SELENON were changed from Muscular dystrophy, rigid spine, 1, 602771; congenital myopathy; muscular dystophy; rigid spine syndrome to Muscular dystrophy, rigid spine, 1, OMIM:602771
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.6 SELENON Zornitza Stark reviewed gene: SELENON: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.117 SELENON Ellen McDonagh Deleted their comment
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.117 SELENON Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.117 SELENON Ellen McDonagh Mode of inheritance for gene: SELENON was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.117 SELENON Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.117 SELENON Ellen McDonagh Mode of inheritance for gene: SELENON was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.116 SELENON Ellen McDonagh changed review comment from: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from from GLH representatives.; to: 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 v1.116 SELENON Ellen McDonagh Classified gene: SELENON as Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.116 SELENON Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from from GLH representatives.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.116 SELENON Ellen McDonagh Gene: selenon has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 SELENON Chiara Marini Bettolo commented on gene: SELENON: Rigid spine syndrome, but not all patients present with rigid spine. Muscle biopsy can range from myoathic to dystrophic. Differential diagnosis with LGMD.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 SELENON Louise Daugherty Source NHS GMS was added to SELENON.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 SELENON Louise Daugherty Source Yorkshire and North East GLH was added to SELENON.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.70 SELENON Louise Daugherty Phenotypes for gene: SELENON were changed from Muscular dystrophy, rigid spine, 1, 602771 to Muscular dystrophy, rigid spine, 1, 602771; congenital myopathy; muscular dystophy; rigid spine syndrome
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 SELENON Chiara Marini Bettolo reviewed gene: SELENON: Rating: GREEN; Mode of pathogenicity: None; Publications: 11528383, 15122708; Phenotypes: congenital myopathy, muscular dystophy, rigid spine syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 SELENON Louise Daugherty Mode of inheritance for gene SELENON was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Muscular dystrophy, rigid spine, 1, 602771 for gene: SELENON
Publications for gene SELENON were changed from to 15122708; 11528383
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 SELENON Louise Daugherty commented on gene: SELENON
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 SELENON Ana Topf reviewed gene: SELENON: Rating: GREEN; Mode of pathogenicity: ; Publications: 11528383, 15122708; Phenotypes: Muscular dystrophy, rigid spine, 1, 602771; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 SELENON Louise Daugherty gene: SELENON was added
gene: SELENON was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: SELENON was set to