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  3. ALDH3A2
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Genetic Epilepsy

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 15 panels

1 review

John Coleman (Murdoch Children's Research Institute)

Green List (high evidence)

Established gene with variable neurocutaneous phenotype. Causes an inborn error of lipid metabolism. Can present in seizures estimated 35-40% in review paper. Multiple published cases with GTC being the predominant seizure type. Seizures a common feature reported on OMIM. Multiple epilepsy cases reported across various differing cohorts (Northern Europe, Belgium, German, Egypt). Curated on the multiple other panels including intellectual delay, Ichthyosis, Mendeliome, leukodystrophy, and metabolic disorders.

Sources: Expert Review, Literature
Created: 4 Dec 2023, 2:48 a.m. | Last Modified: 4 Dec 2023, 2:56 a.m.
Panel Version: 0.1950

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Epilepsy; Seizures; Generalized Tonic Clonic Seizures

Publications

Created: 4 Dec 2023, 2:48 a.m.
Last Modified: 4 Dec 2023, 2:56 a.m.
Panel version: 0.1950

History Filter Activity

1 Mar 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ALDH3A2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

4 Dec 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Dec 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ALDH3A2 were changed from to Sjogren-Larsson syndrome, MIM# 270200

4 Dec 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Dec 2023, Gel status: 0

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

John Coleman (Murdoch Children's Research Institute)

gene: ALDH3A2 was added gene: ALDH3A2 was added to Genetic Epilepsy. Sources: Expert Review,Literature Mode of inheritance for gene: ALDH3A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ALDH3A2 were set to (PMID:32021380,30372562