Distal myopathies
Gene: CRYABEnsemblGeneIds (GRCh38): ENSG00000109846
EnsemblGeneIds (GRCh37): ENSG00000109846
OMIM: 123590, Gene2Phenotype
CRYAB is in 13 panels
3 reviews
Mafalda Gomes (Genomics England Curator)
The 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
Arina Puzriakova (Genomics England Curator)
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
Arianna Tucci (Genomics England Curator)
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
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Eligibility statement prior genetic testing
- Phenotypes
-
- Myopathy, myofibrillar, 2, OMIM:608810
- Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869
- OMIM
- 123590
- Clinvar variants
- Variants in CRYAB
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Dilated and arrhythmogenic cardiomyopathy
- DDG2P
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Structural eye disease
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Dilated Cardiomyopathy and conduction defects
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Distal myopathies
- Bilateral congenital or childhood onset cataracts
History Filter Activity
Removed Tag
Mafalda Gomes (Genomics England Curator)Tag Q4_21_MOI was removed from gene: CRYAB.
Added New Source, Set mode of inheritance
Mafalda Gomes (Genomics England Curator)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
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_21_MOI tag was added to gene: CRYAB.
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: CRYAB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 22nd of February 2017, after revising with the curation team and the expert from UCL Dr Bugiardini.
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Arianna Tucci (Genomics England Curator)Phenotypes for CRYAB were set to Myopathy, myofibrillar 2, 608810
Set Mode of Inheritance
Arianna Tucci (Genomics England Curator)Mode of inheritance for CRYAB was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)CRYAB was added to Distal myopathiespanel. Sources: Eligibility statement prior genetic testing