| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.181 | AGL | Ellen McDonagh Classified gene: AGL as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.181 | AGL | 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 v1.181 | AGL | Ellen McDonagh Gene: agl has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 | AGL | Chiara Marini Bettolo edited their review of gene: AGL: Added comment: metabolic myopathy. Glycongen storage disease IIIa/b; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 | AGL | Louise Daugherty Source NHS GMS was added to AGL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 | AGL | Louise Daugherty Source Yorkshire and North East GLH was added to AGL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 | AGL | Chiara Marini Bettolo reviewed gene: AGL: Rating: GREEN; Mode of pathogenicity: None; Publications: 8755644, 8990006; Phenotypes: Glycogen storage disease IIIb, Glycogen storage disease IIIc; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 | AGL |
Louise Daugherty Mode of inheritance for gene AGL was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Glycogen storage disease IIIb, 232400; Glycogen storage disease IIIc, 232400 for gene: AGL Publications for gene AGL were changed from to 8755644; 8990006 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 | AGL | Ana Topf reviewed gene: AGL: Rating: GREEN; Mode of pathogenicity: ; Publications: 8755644, 8990006; Phenotypes: Glycogen storage disease IIIb, 232400, Glycogen storage disease IIIc, 232400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 | AGL |
Louise Daugherty gene: AGL was added gene: AGL was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: AGL was set to |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||