Hereditary spastic paraplegia - childhood onset

Gene: ALDH3A2

No list

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 (Australian Genomics)

Green List (high evidence)

Early-onset spastic paraparesis is a feature of the condition. >3 families reported with biallelic variants.
Sources: Expert list
Created: 17 Sep 2020, 8:57 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sjogren-Larsson syndrome, MIM#270200

Publications

History Filter Activity

17 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: ALDH3A2 was added gene: ALDH3A2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH3A2 were set to 8528251; 29704247 Phenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome, MIM#270200 Review for gene: ALDH3A2 was set to GREEN