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Fetal anomalies

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 11:09 a.m. | Last Modified: 26 Sep 2024, 11:09 a.m.
Panel Version: 4.192
This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.192

Natalie Chandler (North Thames GLH)

Green List (high evidence)

Not green on any other panel. Comment in 2016 that not recognised on Omim however there is now an entry Diaphragmatic hernia 4, with cardiovascular defects MIM 620025. PMID:33565183 - 4 probands all with compound het missense variants. 3 from one family 2 infants died soon after birth diaphragmatic eventration and pulmonary hypoplasia. Both pregnancies were complicated by polyhydramnios, another fetus in the family had cystic hygroma at 12 weeks and TOP performed also had both variants. Other case from different family diaphragmatic eventration and pulmonary hypoplasia. Both pregnancies were complicated by congenital diaphragmatic hernia and complex cardiac defects, including hypoplasia of the pulmonary arteries, aortopulmonary collateral arteries, ventricular septal defect, and ectasia of the aortic root. Dies at 3 months of age. PMID: 36263470 (from 2023) 3 more cases from same family - all had talipes equinovarus detected prenatallly, 2 TOF, 1 normal echo. 1 with diaphroagmatic eventration. 1 died 19 months, 2 remain alive. 3 different families no animal model. Clear prenatal phenotype Green
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple congenital anomalies, ALDH1A2-related, MONDO:0019042

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

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

History Filter Activity

26 Sep 2024, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: ALDH1A2. Tag Q3_24_NHS_review was removed from gene: ALDH1A2.

26 Sep 2024, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to ALDH1A2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

30 Aug 2024, Gel status: 2

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_24_promote_green tag was added to gene: ALDH1A2. Tag Q3_24_NHS_review tag was added to gene: ALDH1A2.

29 Aug 2024, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ALDH1A2 was added gene: ALDH1A2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ALDH1A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH1A2 were set to 33565183; 36263470 Phenotypes for gene: ALDH1A2 were set to Diaphragmatic hernia 4, with cardiovascular defects, OMIM:620025