Congenital Heart Defect
Gene: ACVR2B

ACVR2B (activin A receptor type 2B)
EnsemblGeneIds (GRCh38): ENSG00000114739
EnsemblGeneIds (GRCh37): ENSG00000114739
OMIM: 602730, Gene2Phenotype
ACVR2B is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

PMID: 9916847 describes (3?) patients who are heterozygous for variants p.(R40H), p.V494I (1999 paper). PMID: 30622330 - an additional 2 families with heterozygous missense and heterotaxy but variants classed as VUS. PMID: 21864452 - Two unrelated patients with heterotaxy and a recurring missense (p.R40H). Unaffected mothers are carriers = variant did not segregate with disease. p.Arg40His has 4 homozygotes in the population (gnomAD) and >350 heterozygotes, which is out of keeping for a rare disorder.
Created: 4 May 2020, 10:12 a.m. | Last Modified: 4 May 2020, 10:12 a.m.

Panel Version: 0.29

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Heterotaxy, visceral, 4, autosomal 613751

Publications

Created: 4 May 2020, 10:12 a.m.
Last Modified: 4 May 2020, 10:12 a.m.
Panel version: 0.29

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Heterotaxy, visceral, 4, autosomal 613751

OMIM

602730

Clinvar variants

Variants in ACVR2B

Penetrance

None

Publications

Panels with this gene