Hereditary Spastic Paraplegia - paediatric
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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Early-onset spastic paraparesis is a feature of the condition. >3 families reported with biallelic variants.
Created: 19 Apr 2020, 8:08 a.m. | Last Modified: 19 Apr 2020, 8:08 a.m.

Panel Version: 0.60

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sjogren-Larsson syndrome MIM#270200

Publications

Created: 19 Apr 2020, 8:08 a.m.
Last Modified: 19 Apr 2020, 8:08 a.m.
Panel version: 0.60

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Sjögren-Larsson syndrome

OMIM

609523

Clinvar variants

Variants in ALDH3A2

Penetrance

None

Panels with this gene

History Filter Activity

19 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

31 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 Hereditary Spastic Paraplegia - paediatric_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 Sjögren-Larsson syndrome

Hereditary Spastic Paraplegia - paediatric Gene: ALDH3A2