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  3. ACVR2B
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Rare multisystem ciliopathy disorders

Gene: ACVR2B

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

1 review

Alice Gardham (Genomics England)

Comment when marking as ready: Visceral heterotaxy not included in this panel
Created: 23 Jan 2017, 4:11 p.m.
Created: 23 Jan 2017, 4:11 p.m.

Panel version: 0.430

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • ciliopathies
OMIM
602730
Clinvar variants
Variants in ACVR2B
Penetrance
Complete
Panels with this gene

History Filter Activity

26 Jan 2017, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January 2017

23 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

25 Nov 2016, Gel status: 1

Upload gene information

Ellen McDonagh (Genomics England Curator)

ACVR2B was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory

25 Nov 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene ACVR2B were set to ciliopathies

5 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ACVR2B was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list

5 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ACVR2B was created by ellenmcdonagh