Likely inborn error of metabolism - targeted testing not possible
Gene: ALDH3A2
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
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
Gene: aldh3a2 has been classified as Green List (High Evidence).
Source NHS GMS was added to ALDH3A2. Source London North GLH was added to ALDH3A2.
Sarah Leigh: Associated with relevant pheno
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