Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: CRYABComment 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.Created: 9 Dec 2019, 4:46 p.m. | Last Modified: 9 Dec 2019, 4:46 p.m.
Panel Version: 1.185
Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.Created: 28 Nov 2019, 5:12 p.m. | Last Modified: 28 Nov 2019, 5:12 p.m.
Panel Version: 1.158
currently provided through LGMD panel at HSS LGMD in Ncl. Rare form of myofibrillar myopathyCreated: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
myofibrillar myopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cataract 16, multiple types, 613763
Publications
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
Mode of inheritance for gene: CRYAB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: cryab has been classified as Green List (High Evidence).
Source NHS GMS was added to CRYAB.
Source Yorkshire and North East GLH was added to CRYAB.
Phenotypes for gene: CRYAB were changed from Cataract 16, multiple types, 613763 to Cataract 16, multiple types, 613763; myofibrillar myopathy
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
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