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DDG2P

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 4 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for ALDH1A2-related diaphragmatic hernia and pulmonary hypoplasia are strong, biallelic_autosomal and undetermined (PMID:33565183). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03158.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease ALDH1A2-related diaphragmatic hernia and pulmonary hypoplasia is strong. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID:33565183).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MONDO:0859571; OMIM:620025.0; ALDH1A2-related diaphragmatic hernia and pulmonary hypoplasia

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ALDH1A2-related diaphragmatic hernia and pulmonary hypoplasia
OMIM
603687
Clinvar variants
Variants in ALDH1A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: ALDH1A2 was changed from Other to None

4 Oct 2023, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ALDH1A2 was added gene: ALDH1A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ALDH1A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH1A2 were set to 33565183 Phenotypes for gene: ALDH1A2 were set to ALDH1A2-related diaphragmatic hernia and pulmonary hypoplasia Mode of pathogenicity for gene: ALDH1A2 was set to Other