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  3. ALDH1A2
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Congenital Heart Defect

Gene: ALDH1A2

Green List (high evidence)
ALDH1A2 (aldehyde dehydrogenase 1 family member A2)
EnsemblGeneIds (GRCh38): ENSG00000128918
EnsemblGeneIds (GRCh37): ENSG00000128918
OMIM: 603687, Gene2Phenotype
ALDH1A2 is in 5 panels

3 reviews

Gina Ravenscroft (University of Western Australia)

In addition to the report noted in review by Bryony Thompson, there is a more recent report of a sibship (n=3) with tetralogy of Fallot, absent thymus, diaphragmatic eventration, and talipes equinovarus.
DOI: 10.1002/ajmg.a.62991

Two variants in trans: c.1040G > A; p.(Arg347His) and c.759delC; p.(H253Qfs*4).

The c.1040G > A; p.(Arg347His) was also identified in the Italian family reported in https://pubmed.ncbi.nlm.nih.gov/33565183/. Allele frequency of 0.00001425, no homozygotes in gnomAD v4.
Created: 3 Jul 2024, 2:38 p.m. | Last Modified: 3 Jul 2024, 2:38 p.m.
Panel Version: 0.418
Created: 3 Jul 2024, 2:38 p.m.
Last Modified: 3 Jul 2024, 2:38 p.m.
Panel version: 0.418

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Diaphragmatic hernia 4, with cardiovascular defects, MIM# 620025

Created: 4 Sep 2022, 10:14 p.m.
Last Modified: 4 Sep 2022, 10:14 p.m.
Panel version: 0.261

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Two families, an Australian family with segregation of biallelic variants and an unrelated Italian proband with biallelic variants with similar phenotypes. Functional assays suggest the variants in the 2 families are hypomorphic. Knockout mouse model is embryonic lethal due utero defects in early heart morphogenesis.
Sources: Literature
Created: 9 Apr 2021, 5:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital heart defects; diaphragmatic eventration; pulmonary hypoplasia; dysmorphic features

Publications

Created: 9 Apr 2021, 5:32 a.m.

Panel version: 0.99

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Diaphragmatic hernia 4, with cardiovascular defects, MIM# 620025
OMIM
603687
Clinvar variants
Variants in ALDH1A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Sep 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ALDH1A2 were changed from Congenital heart defects; diaphragmatic eventration; pulmonary hypoplasia; dysmorphic features to Diaphragmatic hernia 4, with cardiovascular defects, MIM# 620025

9 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: aldh1a2 has been classified as Green List (High Evidence).

9 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: aldh1a2 has been classified as Green List (High Evidence).

9 Apr 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ALDH1A2 was added gene: ALDH1A2 was added to Congenital Heart Defect. Sources: Literature Mode of inheritance for gene: ALDH1A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH1A2 were set to 33565183; 10192400 Phenotypes for gene: ALDH1A2 were set to Congenital heart defects; diaphragmatic eventration; pulmonary hypoplasia; dysmorphic features Review for gene: ALDH1A2 was set to GREEN