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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.175 | COLQ | Ellen McDonagh Classified gene: COLQ as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.175 | COLQ | 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 v1.175 | COLQ | Ellen McDonagh Gene: colq has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 | COLQ | Chiara Marini Bettolo edited their review of gene: COLQ: Added comment: CMS; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 | COLQ | Louise Daugherty Source NHS GMS was added to COLQ. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 | COLQ | Louise Daugherty Source Yorkshire and North East GLH was added to COLQ. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.61 | COLQ | Louise Daugherty Phenotypes for gene: COLQ were changed from Myasthenic syndrome, congenital, 5, 603034 to Myasthenic syndrome, congenital, 5, 603034; Congenital myasthenic syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 | COLQ | Chiara Marini Bettolo reviewed gene: COLQ: Rating: GREEN; Mode of pathogenicity: None; Publications: 9689136; Phenotypes: Congenital myasthenic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 | COLQ |
Louise Daugherty Mode of inheritance for gene COLQ was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Myasthenic syndrome, congenital, 5, 603034 for gene: COLQ Publications for gene COLQ were changed from to 9689136 |
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 | COLQ | Ana Topf reviewed gene: COLQ: Rating: GREEN; Mode of pathogenicity: ; Publications: 9689136; Phenotypes: Myasthenic syndrome, congenital, 5, 603034; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 | COLQ |
Louise Daugherty gene: COLQ was added gene: COLQ was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: COLQ was set to |
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