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  2. Likely inborn error of metabolism
  3. ALDH3A2
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Likely inborn error of metabolism

Gene: ALDH3A2

Green List (high evidence)
ALDH3A2 (aldehyde dehydrogenase 3 family member A2)
EnsemblGeneIds (GRCh38): ENSG00000072210
EnsemblGeneIds (GRCh37): ENSG00000072210
OMIM: 609523, Gene2Phenotype
ALDH3A2 is in 16 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 9 variants reported.
Created: 22 Aug 2019, 4:02 p.m. | Last Modified: 22 Aug 2019, 4:02 p.m.
Panel Version: 1.255

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sjogren-Larsson syndrome 270200

Publications

Created: 22 Aug 2019, 3:55 p.m.
Last Modified: 22 Aug 2019, 3:55 p.m.
Panel version: 1.255

History Filter Activity

24 Aug 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ALDH3A2 were changed from Intellectual disability; Sj gren - Larsson syndrome (Other disorders of lipid and lipoprotein metabolism); Inherited white matter disorders to Sjogren-Larsson syndrome, OMIM:270200

22 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: aldh3a2 has been classified as Green List (High Evidence).

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ALDH3A2. Source London North GLH was added to ALDH3A2.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: ALDH3A2 was added gene: ALDH3A2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH3A2 were set to 27604308 Phenotypes for gene: ALDH3A2 were set to Intellectual disability; Sj gren - Larsson syndrome (Other disorders of lipid and lipoprotein metabolism); Inherited white matter disorders