Congenital muscular dystrophy and 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
-
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert Review Red
- 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
-
- Paediatric or syndromic cardiomyopathy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Bilateral congenital or childhood onset cataracts
- Hereditary neuropathy or pain disorder
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Dilated Cardiomyopathy and conduction defects
- DDG2P
- Structural eye disease
- Hereditary neuropathy
- Distal myopathies
- Arthrogryposis
- Dilated and arrhythmogenic cardiomyopathy
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: CRYAB was added gene: CRYAB was added to Congenital muscular dystrophy and congenital myopathy. Sources: Expert Review Red,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: CRYAB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CRYAB were set to 21337604 Phenotypes for gene: CRYAB were set to Myopathy, myofibrillar, 2, OMIM:608810; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869 Penetrance for gene: CRYAB were set to Complete