Congenital myopathy
Gene: CRYAB
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
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
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
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
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.
This gene has been classified as Red List (Low Evidence).
Phenotypes for CRYAB were set to Myopathy, myofibrillar, 2 608810; Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related 613869
Publications for CRYAB were set to 21337604
Mode of inheritance for CRYAB was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Red List (Low Evidence).
CRYAB was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services
CRYAB was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen