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| Hypertrophic cardiomyopathy v2.31 | CRYAB | Arina Puzriakova Phenotypes for gene: CRYAB were changed from "Myopathy, myofibrillar, fatal infantile hypertrophy, alpha ‐ B crystallin ‐ related, 613869" to Myopathy, myofibrillar, 2, OMIM:608810 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.53 | CRYAB | Rebecca Whittington commented on gene: CRYAB: Cardiomyopathy, dilated, 1II (123590); Myopathy, myofibrillar, 2 (608810) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.52 | CRYAB | Rebecca Whittington commented on gene: CRYAB: On the Inherited Cardiac Condition Genes panel for Dilated cardiomyopathy reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10._1007/_s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 3. HGMD: 24 DM variants associated mainly with paeditaric cataracts though some patients can have cardiomyopathy and myopathy. Some truncating variants associated with cardiomyopathy. A number of variants have functional studies eg: Raju (2013) Biochem Biophys Res Commun 430: 107 PubMed: 23194663 of a variant assoc with cataracts, cardiomyopathy and myopathy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.51 | CRYAB | Rebecca Whittington reviewed gene: CRYAB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.45 | CRYAB |
Ellen McDonagh Source South West GLH was added to CRYAB. Mode of inheritance for gene CRYAB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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| Hypertrophic cardiomyopathy v1.44 | CRYAB | Ellen McDonagh reviewed gene: CRYAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.43 | CRYAB | Ellen McDonagh Source London South GLH was added to CRYAB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||