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Fabry disease
Gene: GLA
GLA (galactosidase alpha)
EnsemblGeneIds (GRCh38): ENSG00000102393
EnsemblGeneIds (GRCh37): ENSG00000102393
OMIM: 300644, Gene2Phenotype
GLA is in 25 panels
EnsemblGeneIds (GRCh38): ENSG00000102393
EnsemblGeneIds (GRCh37): ENSG00000102393
OMIM: 300644, Gene2Phenotype
GLA is in 25 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #301500) and the OMIM record was last accessed on 17 December 2025.Created: 17 Dec 2025, 11:49 p.m. | Last Modified: 17 Dec 2025, 11:49 p.m.
Panel Version: 1.2
GLA has been added to the panel for R335 Fabry disease with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 12:02 p.m. | Last Modified: 30 Jun 2023, 12:02 p.m.
Panel Version: 0.1
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Fabry disease, OMIM:301500
- Fabry disease, cardiac variant, OMIM:301500
- Fabry disease, MONDO:0010526
- OMIM
- 300644
- Clinvar variants
- Variants in GLA
- Penetrance
- None
- Panels with this gene
-
- Hereditary neuropathy
- Unexplained kidney failure in young people
- Multiple monogenic benign skin tumours
- Dilated Cardiomyopathy and conduction defects
- Mucopolysaccharideosis, Gaucher, Fabry
- Adult onset leukodystrophy
- Hyperammonaemia
- Fetal hydrops
- Cerebral vascular malformations
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Progressive cardiac conduction disease
- Cystic kidney disease
- Pain syndromes
- Hypertrophic cardiomyopathy
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Familial cerebral small vessel disease
- Proteinuric renal disease
- Paroxysmal central nervous system disorders
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Lysosomal storage disorder
- Fabry disease
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
17 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: GLA were changed from to Fabry disease, OMIM:301500; Fabry disease, cardiac variant, OMIM:301500; Fabry disease, MONDO:0010526
29 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: GLA was added gene: GLA was added to Fabry disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)