Arthrogryposis
Gene: CRYABComment on list classification: No clear association with arthrogryposisCreated: 4 Jan 2017, 10:25 a.m.
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, 608810Cataract 16, multiple types, 613763Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related, 613869Cardiomyopathy, dilated, 1II, 615184; Myofibrillar Myopathy, Dominant to Myopathy, myofibrillar, 2, OMIM:608810; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:61386
16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
CRYAB was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen CRYAB was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene CRYAB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
CRYAB was added to Arthrogryposispanel. Sources: Expert list
CRYAB was created by ellenmcdonagh