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Prepair 500+

Gene: GLA

Green List (high evidence)

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

2 reviews

Shakira Heerah (Victorian Clinical Genetics Services)

Green List (high evidence)

Fabry disease: childhood onset clinical symptoms, life-threatening complications involving kidneys, heart and cerebrovascular systems
Fabry disease, cardiac variant: later-onset typically only affecting heart, kidneys, or blood vessels in brain
Female carriers can experience significant medical complications
Treatments: carbamazepine for neuropathic pain, enzyme replacement therapy available to prevent or delay disease progression
Created: 3 Sep 2024, 1:07 a.m. | Last Modified: 3 Sep 2024, 1:07 a.m.
Panel Version: 1.248

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Fabry disease, 301500, (3)

Publications

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene disease association. Associated with 2 forms:
Classic FD: onset of clinical symptoms occurs in pediatric patients. Life‐threatening complications involving the kidneys, heart and cerebrovascular system may develop
Cardiac variant/Atypical FD: sually presents in the sixth to eighth decade

Enzyme replacement therapy (ERT) is available to prevent and/or delay disease progression

Female carriers experience significant clinical manifestations
Created: 21 Jul 2022, 6:25 a.m. | Last Modified: 21 Jul 2022, 6:25 a.m.
Panel Version: 0.61

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Fabry disease (MIM#301500)

Publications

History Filter Activity

3 Nov 2023, Gel status: 3

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

Seb Lunke (Victorian Clinical Genetics Services)

gene: GLA was added gene: GLA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: GLA were set to 29649853; 20301469 Phenotypes for gene: GLA were set to Fabry disease, MIM#301500