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Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.154 | DOK7 | Ellen McDonagh Marked gene: DOK7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.154 | DOK7 | Ellen McDonagh Gene: dok7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.154 | DOK7 | Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.154 | DOK7 | Ellen McDonagh Mode of inheritance for gene: DOK7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.153 | DOK7 | Ellen McDonagh Classified gene: DOK7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.153 | DOK7 | 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 v1.153 | DOK7 | Ellen McDonagh Gene: dok7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.99 | DOK7 | Louise Daugherty Added comment: Comment on phenotypes: removed Fetal akinesia deformation sequence 1, 208150- the phenotype is related to variants in the gene MUSK not the gene DOK7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.99 | DOK7 | Louise Daugherty Phenotypes for gene: DOK7 were changed from Fetal akinesia deformation sequence 1, 208150; Congenital myasthenic syndrome; Limb-girdle muscular dystrophy to Congenital myasthenic syndrome; Limb-girdle muscular dystrophy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 | DOK7 | Chiara Marini Bettolo commented on gene: DOK7: CMS gene, but clinically can present as LGMD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 | DOK7 | Louise Daugherty Source NHS GMS was added to DOK7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 | DOK7 | Louise Daugherty Source Yorkshire and North East GLH was added to DOK7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.47 | DOK7 | Louise Daugherty Phenotypes for gene: DOK7 were changed from Fetal akinesia deformation sequence 1, 208150 to Fetal akinesia deformation sequence 1, 208150; Congenital myasthenic syndrome; Limb-girdle muscular dystrophy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 | DOK7 | Chiara Marini Bettolo commented on gene: DOK7: overlap phenotype with LGMD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 | DOK7 | Chiara Marini Bettolo edited their review of gene: DOK7: Changed phenotypes: Congenital myasthenic syndrome, Limb-girdle muscular dystrophy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 | DOK7 | Chiara Marini Bettolo reviewed gene: DOK7: Rating: GREEN; Mode of pathogenicity: None; Publications: 19261599; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 | DOK7 |
Louise Daugherty Mode of inheritance for gene DOK7 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fetal akinesia deformation sequence 1, 208150 for gene: DOK7 Publications for gene DOK7 were changed from to 19261599 |
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Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 | DOK7 | Ana Topf reviewed gene: DOK7: Rating: GREEN; Mode of pathogenicity: ; Publications: 19261599; Phenotypes: Fetal akinesia deformation sequence 1, 208150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 | DOK7 |
Louise Daugherty gene: DOK7 was added gene: DOK7 was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: DOK7 was set to |