Leukodystrophy - adult onset
Gene: GLA

GLA (galactosidase alpha)
EnsemblGeneIds (GRCh38): ENSG00000102393
EnsemblGeneIds (GRCh37): ENSG00000102393
OMIM: 300644, Gene2Phenotype
GLA is in 24 panels

1 review

Claire Fryer-Smith (University of Melbourne)

Green List (high evidence)

Fabry disease (FD), also known as Anderson-Fabry disease or angiokeratoma corporis diffusum, currently recognized as the most prevalent LSD, is caused by the deficiency of α-galactosidase A (α-Gal A), mapped to chromosome Xq22 and transmitted an X-linked trait (PMID: 30757954).

Many Fabry disease patients described in the literature with GLA variants: PMID 12786754; 15924232; 31200018; 31519519.
Created: 8 Sep 2023, 5:16 a.m. | Last Modified: 8 Sep 2023, 5:16 a.m.

Panel Version: 0.109

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Fabry disease (MIM# 301500)

Publications

Created: 8 Sep 2023, 5:16 a.m.
Last Modified: 8 Sep 2023, 5:16 a.m.
Panel version: 0.109

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Royal Melbourne Hospital
Expert Review Green

Phenotypes

Fabry disease, Fabry disease, cardiac variant, 301500

OMIM

300644

Clinvar variants

Variants in GLA

Penetrance

None

Panels with this gene

History Filter Activity

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: GLA was added gene: GLA was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GLA were set to Fabry disease, Fabry disease, cardiac variant, 301500

Leukodystrophy - adult onset Gene: GLA