Paediatric or syndromic cardiomyopathy
Gene: CAP2
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
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: LiteratureCreated: 7 Sep 2023, 7:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cardiomyopathy, dilated, 2I (MIM#620462)
Publications
Tag Q3_23_promote_green tag was added to gene: CAP2.
Gene: cap2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: CAP2 were changed from Cardiomyopathy, dilated, 2I (MIM#620462) to Cardiomyopathy, dilated, 2I, OMIM:620462
gene: CAP2 was added gene: CAP2 was added to Paediatric or syndromic cardiomyopathy. Sources: Literature Mode of inheritance for gene: CAP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAP2 were set to 30518548; 33083013; 34862840 Phenotypes for gene: CAP2 were set to Cardiomyopathy, dilated, 2I (MIM#620462) Review for gene: CAP2 was set to GREEN