| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.32 | CRYAB | Arina Puzriakova Phenotypes for gene: CRYAB were changed from Cataract 16, multiple types, 613763; myofibrillar myopathy to Myopathy, myofibrillar, 2, OMIM:608810; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.185 | CRYAB | Louise Daugherty Added comment: Comment on mode of inheritance: Changed MOI to BOTH due to feedback from Judith Hudson and Chiara Marini Bettolo - We also agree that the mode of inheritance for CRYAB is predominantly monoallelic, though there are rare cases where individuals appear to have two copies of the same pathogenic variant. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.185 | CRYAB | Louise Daugherty Mode of inheritance for gene: CRYAB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.158 | CRYAB | Ellen McDonagh Classified gene: CRYAB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.158 | CRYAB | 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 v1.158 | CRYAB | Ellen McDonagh Gene: cryab has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 | CRYAB | Chiara Marini Bettolo commented on gene: CRYAB: currently provided through LGMD panel at HSS LGMD in Ncl. Rare form of myofibrillar myopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 | CRYAB | Louise Daugherty Source NHS GMS was added to CRYAB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 | CRYAB | Louise Daugherty Source Yorkshire and North East GLH was added to CRYAB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.79 | CRYAB | Louise Daugherty Phenotypes for gene: CRYAB were changed from Cataract 16, multiple types, 613763 to Cataract 16, multiple types, 613763; myofibrillar myopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 | CRYAB | Chiara Marini Bettolo reviewed gene: CRYAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 11577372; Phenotypes: myofibrillar myopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 | CRYAB |
Louise Daugherty Mode of inheritance for gene CRYAB was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Cataract 16, multiple types, 613763 for gene: CRYAB Publications for gene CRYAB were changed from to 11577372 |
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 | CRYAB | Ana Topf reviewed gene: CRYAB: Rating: GREEN; Mode of pathogenicity: ; Publications: 11577372; Phenotypes: Cataract 16, multiple types, 613763; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 | CRYAB |
Louise Daugherty gene: CRYAB was added gene: CRYAB was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: CRYAB was set to |
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