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Mendeliome

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

4 reviews

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

Seb Lunke (Victorian Clinical Genetics Services)

Agreed red for isolated cutaneous syndactyly, but remains green for cardiac.
Created: 2 Aug 2021, 5:57 a.m. | Last Modified: 2 Aug 2021, 5:57 a.m.
Panel Version: 0.8601

Ain Roesley (Victorian Clinical Genetics Services)

Red List (low evidence)

1x fs in a family with affected father and son with isolated cutaneous syndactyly of the fingers III–IV and the toes II–III.
Created: 2 Aug 2021, 5:43 a.m. | Last Modified: 2 Aug 2021, 5:43 a.m.
Panel Version: 0.8587

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

Publications

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.
Created: 9 Apr 2021, 5:11 a.m. | Last Modified: 9 Apr 2021, 5:11 a.m.
Panel Version: 0.7086

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: ALDH1A2 were changed from to congenital heart defects; diaphragmatic eventration; pulmonary hypoplasia; dysmorphic features

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

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: ALDH1A2 were set to

9 Apr 2021, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: ALDH1A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ALDH1A2 was added gene: ALDH1A2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ALDH1A2 was set to Unknown