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Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.178 | CHRND | Ellen McDonagh Classified gene: CHRND as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.178 | CHRND | 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 v1.178 | CHRND | Ellen McDonagh Gene: chrnd has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 | CHRND | Chiara Marini Bettolo edited their review of gene: CHRND: Added comment: form of CMS; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 | CHRND | Louise Daugherty Source NHS GMS was added to CHRND. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 | CHRND | Louise Daugherty Source Yorkshire and North East GLH was added to CHRND. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.73 | CHRND | Louise Daugherty Phenotypes for gene: CHRND were changed from Myasthenic syndrome, congenital, 3A, slow-channel, 616321 to Myasthenic syndrome, congenital, 3A, slow-channel, 616321; Congenital myasthenic syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 | CHRND | Chiara Marini Bettolo reviewed gene: CHRND: Rating: GREEN; Mode of pathogenicity: None; Publications: 11782989; Phenotypes: Congenital myasthenic syndrome; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 | CHRND |
Louise Daugherty Mode of inheritance for gene CHRND was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Myasthenic syndrome, congenital, 3A, slow-channel, 616321 for gene: CHRND Publications for gene CHRND were changed from to 11782989 |
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Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 | CHRND | Ana Topf reviewed gene: CHRND: Rating: GREEN; Mode of pathogenicity: ; Publications: 11782989; Phenotypes: Myasthenic syndrome, congenital, 3A, slow-channel, 616321; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 | CHRND |
Louise Daugherty gene: CHRND was added gene: CHRND was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: CHRND was set to |