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  3. CAP2
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Dilated Cardiomyopathy

Gene: CAP2

Green List (high evidence)
CAP2 (cyclase associated actin cytoskeleton regulatory protein 2)
EnsemblGeneIds (GRCh38): ENSG00000112186
EnsemblGeneIds (GRCh37): ENSG00000112186
CAP2 is in 3 panels

1 review

Daniel Flanagan (Victorian Clinical Genetics Services)

Green List (high evidence)

Four patients 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: Expert list
Created: 7 Sep 2023, 2:43 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 7 Sep 2023, 2:43 a.m.

Panel version: 1.22

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cardiomyopathy, dilated, 2I (MIM#620462)
Clinvar variants
Variants in CAP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Sep 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cap2 has been classified as Green List (High Evidence).

7 Sep 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cap2 has been classified as Green List (High Evidence).

7 Sep 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Daniel Flanagan (Victorian Clinical Genetics Services)

gene: CAP2 was added gene: CAP2 was added to Dilated Cardiomyopathy. Sources: Expert list Mode of inheritance for gene: CAP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAP2 were set to PMID: 30518548; 33083013; 34862840 Phenotypes for gene: CAP2 were set to Cardiomyopathy, dilated, 2I (MIM#620462) Review for gene: CAP2 was set to GREEN