Familial non syndromic congenital heart disease
Gene: ACVR2B
ACVR2B (activin A receptor type 2B)
EnsemblGeneIds (GRCh38): ENSG00000114739
EnsemblGeneIds (GRCh37): ENSG00000114739
OMIM: 602730, Gene2Phenotype
ACVR2B is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000114739
EnsemblGeneIds (GRCh37): ENSG00000114739
OMIM: 602730, Gene2Phenotype
ACVR2B is in 9 panels
1 review
Helen Brittain (Genomics England Curator)
Three unrelated cases of left-right axis malformations, including cardiac anomalies e.g. left atrialisomerism in PMID:9916847.Created: 4 Jul 2017, 7:24 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Heterotaxy syndrome; Heterotaxy, visceral, 4, autosomal, 613751; Visceral Heterotaxy; Heterotaxy, Visceral, 4, Autosomal
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- UKGTN
- Literature
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Heterotaxy syndrome
- Heterotaxy, visceral, 4, autosomal, 613751
- Visceral Heterotaxy
- Heterotaxy, Visceral, 4, Autosomal
- OMIM
- 602730
- Clinvar variants
- Variants in ACVR2B
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
4 Jul 2017, Gel status: 3
Added New Source
Helen Brittain (Genomics England Curator)ACVR2B was added to Familial non syndromic congenital heart diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Literature,Radboud University Medical Center, Nijmegen,UKGTN
4 Jul 2017, Gel status: 0
Created
Helen Brittain (Genomics England Curator)ACVR2B was created by helen.brittain