Distal myopathies
Gene: CRYABThe mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 4:42 p.m. | Last Modified: 1 Feb 2023, 4:42 p.m.
Panel Version: 2.3
Comment on mode of inheritance: MOI should be updated from 'Monoallelic' to 'Both mono- and biallelic' at the next GMS panel update. Predominantly monoallelic inheritance, though there are rare cases with biallelic variants where individuals tend to be more severely affected.Created: 27 Oct 2021, 1:52 p.m. | Last Modified: 27 Oct 2021, 1:52 p.m.
Panel Version: 1.33
Comment when marking as ready: mutations in this gene cause a distal myopathy phenotypeCreated: 20 Feb 2017, 12:26 p.m.
Cataract is also part of the phenotypeCreated: 31 Jan 2017, 5:13 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myopathy, myofibrillar 2, 608810
Publications
Tag Q4_21_MOI was removed from gene: CRYAB.
Source NHS GMS was added to CRYAB. Mode of inheritance for gene CRYAB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tag Q4_21_MOI tag was added to gene: CRYAB.
Mode of inheritance for gene: CRYAB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CRYAB were changed from Myopathy, myofibrillar 2, 608810 to Myopathy, myofibrillar, 2, OMIM:608810; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869
Promoted to V1 on 22nd of February 2017, after revising with the curation team and the expert from UCL Dr Bugiardini.
This gene has been classified as Green List (High Evidence).
Phenotypes for CRYAB were set to Myopathy, myofibrillar 2, 608810
Mode of inheritance for CRYAB was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
CRYAB was added to Distal myopathiespanel. Sources: Eligibility statement prior genetic testing