1. Panels
  2. Paediatric disorders - additional genes
  3. ACVR2B
STRs in panel
Prev Next
Regions in panel
Prev Next

Paediatric disorders - additional genes

Gene: ACVR2B

Green List (high evidence)
ACVR2B (activin A receptor type 2B)
EnsemblGeneIds (GRCh38): ENSG00000114739
EnsemblGeneIds (GRCh37): ENSG00000114739
OMIM: 602730, Gene2Phenotype
ACVR2B is in 9 panels

1 review

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Meets criteria for green rating under 100K - awaiting higher level sign off re GMS indication
Created: 7 Aug 2019, 1:48 p.m. | Last Modified: 7 Aug 2019, 1:48 p.m.
Panel Version: 0.26
Three unrelated cases of left-right axis malformations, including cardiac anomalies e.g. left atrial isomerism
Sources: Literature
Created: 7 Aug 2019, 1:47 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Heterotaxy syndrome Heterotaxy, visceral, 4, autosomal, 613751

Publications

Created: 7 Aug 2019, 1:47 p.m.

Panel version: 0.25

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Heterotaxy syndrome Heterotaxy, visceral, 4, autosomal, 613751
OMIM
602730
Clinvar variants
Variants in ACVR2B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Helen Brittain (Genomics England Curator)

Gene: acvr2b has been classified as Green List (High Evidence).

7 Aug 2019, Gel status: 1

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

Helen Brittain (Genomics England Curator)

gene: ACVR2B was added gene: ACVR2B was added to Paediatric disorders - additional genes. Sources: Literature Mode of inheritance for gene: ACVR2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ACVR2B were set to 9916847 Phenotypes for gene: ACVR2B were set to Heterotaxy syndrome Heterotaxy, visceral, 4, autosomal, 613751 Review for gene: ACVR2B was set to GREEN