Congenital myopathy
Gene: CRYABEnsemblGeneIds (GRCh38): ENSG00000109846
EnsemblGeneIds (GRCh37): ENSG00000109846
OMIM: 123590, Gene2Phenotype
CRYAB is in 13 panels
2 reviews
Anna Sarkozy (Great Ormond Street Hospital)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myopathy, myofibrillar, 2 608810; Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related 613869
Publications
Helen Brittain (Genomics England Curator)
Comment when marking as ready: AD (commonest) of adult onset. AR in Canadian cree only, presenting earlier but with hypertonia. Not appropriate for inclusion criteriaCreated: 3 Feb 2017, 10:47 a.m.
Comment on mode of inheritance: Reported cases in Canadian Cree population of infantile onset (but hypertonia) therefore considered as both biallelic and monoallelicCreated: 3 Feb 2017, 10:45 a.m.
Comment on list classification: The AD form is of adult onset. The only reported cases of infantile onset are from a specific population (Canadian Cree) with founder effect. The infants also presented with hypertonia, not hypotonia.Created: 3 Feb 2017, 10:44 a.m.
The AD form is of adult onset. The only reported cases of infantile onset are from a specific population (Canadian Cree) with founder effect. The infants also presented with hypertonia and respiratory compromise. Therefore the phenotype is not what I would consider consistent for a congenital myopathy panel.Created: 26 Jan 2017, 2:11 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myopathy, myofibrillar, 2 608810; Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related 613869
Publications
- PMID 21337604
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- 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
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- 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
- Hereditary neuropathy or pain disorder
- Distal myopathies
- Bilateral congenital or childhood onset cataracts
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CRYAB were changed from Myopathy, myofibrillar, 2, OMIM:608810; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:61386 to Myopathy, myofibrillar, 2, OMIM:608810; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CRYAB were changed from Myopathy, myofibrillar, 2 608810; Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related 613869 to Myopathy, myofibrillar, 2, OMIM:608810; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:61386
panel promoted to version 1
Helen Brittain (Genomics England Curator)Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for CRYAB were set to Myopathy, myofibrillar, 2 608810; Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related 613869
Set publications
Helen Brittain (Genomics England Curator)Publications for CRYAB were set to 21337604
Set Mode of Inheritance
Helen Brittain (Genomics England Curator)Mode of inheritance for CRYAB was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
GEL ()CRYAB was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
GEL ()CRYAB was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen