Dilated and arrhythmogenic cardiomyopathy
Gene: CRYABEnsemblGeneIds (GRCh38): ENSG00000109846
EnsemblGeneIds (GRCh37): ENSG00000109846
OMIM: 123590, Gene2Phenotype
CRYAB is in 13 panels
2 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on list classification: There are three unrelated cases reported with isolated dilated cardiomyopathy (DCM). However, the variant was not specified for one of the cases. Hence, the gene should be rated amber with 'watchlist' tagged added for future review with new evidence.Created: 4 Sep 2026, 1:05 p.m. | Last Modified: 4 Sep 2026, 1:05 p.m.
Panel Version: 4.8
PMID:40046506 (2025) reported a 42-year-old male with dilated cardiomyopthy (DCM) and restrictive physiology, heterozygous for an unspecified CRYAB mutation identified via a 76-gene NGS cardiomyopathy panel; considered likely de novo (no affected relatives), no segregation or functional studies performed on the patient, histology showed myocardial fibrosis only.
PMID:41153379 (2025) reported six affected individuals across a multigenerational Iranian family with combined DCM and long QT syndrome (including sudden cardiac death in three relatives), all heterozygous for a novel c.368G>A (p.Arg123Gln) variant with confirmed autosomal dominant co-segregation.
PMID:42170542 (2026) reported a 16-year-old male with early-onset DCM and non-sustained ventricular tachycardia, heterozygous for a novel c.205C>T (p.Arg69Cys) variant identified by whole-exome sequencing and confirmed by Sanger sequencing, together with a PSEN2 variant of uncertain significance.
This gene has been associated with relevant phenotype in OMIM - MIM #615184 (record last accessed 04 September 2026).Created: 4 Sep 2026, 1 p.m. | Last Modified: 4 Sep 2026, 1 p.m.
Panel Version: 4.4
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardiomyopathy, dilated, 1II, OMIM:615184; dilated cardiomyopathy 1II, MONDO:0014073
Publications
Ivone Leong (Genomics England Curator)
New gene submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.Created: 3 Dec 2019, 2:28 p.m. | Last Modified: 3 Dec 2019, 2:28 p.m.
Panel Version: 0.52
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- NHS GMS
- Phenotypes
-
- Cardiomyopathy, dilated, 1II, OMIM:615184
- dilated cardiomyopathy 1II, MONDO:0014073
- Tags
- OMIM
- 123590
- Clinvar variants
- Variants in CRYAB
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hypertrophic cardiomyopathy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Hereditary neuropathy
- Congenital myopathy
- Structural eye disease
- Hereditary neuropathy or pain disorder
- Distal myopathies
- Bilateral congenital or childhood onset cataracts
- Dilated Cardiomyopathy and conduction defects
- DDG2P
- Dilated and arrhythmogenic cardiomyopathy
History Filter Activity
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: cryab has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: CRYAB were changed from Cardiomyopathy, dilated, 1II, OMIM:615184; Myopathy, myofibrillar, 2, OMIM:608810 to Cardiomyopathy, dilated, 1II, OMIM:615184; dilated cardiomyopathy 1II, MONDO:0014073
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: CRYAB were set to
Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)Mode of inheritance for gene: CRYAB was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag watchlist tag was added to gene: CRYAB.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CRYAB were changed from to Cardiomyopathy, dilated, 1II, OMIM:615184; Myopathy, myofibrillar, 2, OMIM:608810
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: CRYAB was added gene: CRYAB was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: CRYAB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown