Familial non syndromic congenital heart disease

Gene: ALDH1A2

Red List (low evidence)

ALDH1A2 (aldehyde dehydrogenase 1 family member A2)
EnsemblGeneIds (GRCh38): ENSG00000128918
EnsemblGeneIds (GRCh37): ENSG00000128918
OMIM: 603687, Gene2Phenotype
ALDH1A2 is in 2 panels

1 review

Alice Gardham (Genomics England)

Comment when marking as ready: Limited evidence -variant found in two patients only. Not recognised on G2P or OMIM
Created: 24 Nov 2016, 12:51 p.m.

Details

Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Tetralogy of Fallot (Pavan (2009) BMC Med Genet 10, 113)
OMIM
603687
Clinvar variants
Variants in ALDH1A2
Penetrance
Complete
Publications
  • DOI: 10.1186/1471-2350-10-113
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

28 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

28 Nov 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ALDH1A2 was added to Familial non syndromic congenital heart diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red

28 Nov 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ALDH1A2 was created by ellenmcdonagh