Leukodystrophy - adult onset
Gene: ALDH3A2

ALDH3A2 (aldehyde dehydrogenase 3 family member A2)
EnsemblGeneIds (GRCh38): ENSG00000072210
EnsemblGeneIds (GRCh37): ENSG00000072210
OMIM: 609523, Gene2Phenotype
ALDH3A2 is in 15 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Onset of signs and symptoms such as ichthyosis and spasticity is typically in infancy, though white matter changes become more pronounced with age.
Created: 3 May 2020, 11:03 p.m. | Last Modified: 3 May 2020, 11:03 p.m.

Panel Version: 0.42

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sjogren-Larsson syndrome, MIM# 270200

Created: 3 May 2020, 11:03 p.m.
Last Modified: 3 May 2020, 11:03 p.m.
Panel version: 0.42

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Sjogren-Larsson syndrome, 270200

OMIM

609523

Clinvar variants

Variants in ALDH3A2

Penetrance

None

Panels with this gene

History Filter Activity

3 May 2020, 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).

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ALDH3A2 was added gene: ALDH3A2 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome, 270200

Leukodystrophy - adult onset Gene: ALDH3A2