Dilated Cardiomyopathy

Gene: CRYAB

Red List (low evidence)

Not curated by ClinGen as of this review. Associated with DCM in OMIM but also myopathy and congenital cataracts (the association with the latter phenotypes is stronger).

3 independent individuals/families with DCM reported that I could find. 1 additional report of RCM.

PMID 16793013: 1 heterozygous missense variant in an individual with mild, late-onset DCM (200 patient cohort) (253 hets in gnomAD)
PMID 16483541: 1 heterozygous missense variant in a 71-year-old individual with DCM (130 patient cohort). Functional studies showed impared binding to TTN (18 hets in gnomad).
PMID 23590293: 1 heterozygous stop-loss variant identified in a family with congenital cataracts and DCM, although not all members of the family with the variant had DCM.
PMID 29253866: variant identified in an individual with restrictive cardiomyopathy (cohort study)

Amber in PanelApp GEL

I don't think there's sufficient evidence for an association with DCM so I am marking this red.

Created: 3 Aug 2020, 1:12 a.m. | Last Modified: 3 Aug 2020, 1:20 a.m.

Panel Version: 0.43

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Cardiomyopathy, dilated, 1II MIM#615184

Publications

• 16793013
• 16483541
• 23590293
• 29253866

Variants in this GENE are reported as part of current diagnostic practice