Paediatric or syndromic cardiomyopathy

Gene: CAP2

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.

Created: 3 May 2024, 11:02 a.m. | Last Modified: 3 May 2024, 11:02 a.m.

Panel Version: 4.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

Comment on list classification: As reviewed by Zornitza Stark, there is sufficient evidence for this gene to be promoted to green rating in the next GMS review.

Created: 18 Sep 2023, 8:40 p.m. | Last Modified: 18 Sep 2023, 8:40 p.m.

Panel Version: 3.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cardiomyopathy, dilated, 2I, OMIM:620462

Publications

• 30518548
• 33083013
• 34862840

Green List (high evidence)

Four individuals from three families with homozygous variants and early onset DCM. Knockout mouse model shows DCM and cardiac conduction disease.

PMID: 33083013: Cheema
Homozygous nonsense (p.(Tyr316*)) reported in a DCM and heart failure patient. Two siblings deceased due to DCM but not tested.

PMID: 34862840: Gurunathan
Homozygous PTC identified in an infant with severe dilated cardiomyopathy, biventricular dysfunction and left ventricular noncompaction. Carrier parents unaffected.

PMID: 30518548: Aspit
Homozygous canonical splice variant in two cousins from a consanguineous family with DCM. All carriers unaffected. Knockout mouse model shows DCM and cardiac conduction disease.
Sources: Literature

Created: 7 Sep 2023, 7:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cardiomyopathy, dilated, 2I (MIM#620462)

Publications

• 30518548
• 33083013
• 34862840