Stroke
Gene: GLA
GLA (galactosidase alpha)
EnsemblGeneIds (GRCh38): ENSG00000102393
EnsemblGeneIds (GRCh37): ENSG00000102393
OMIM: 300644, Gene2Phenotype
GLA is in 24 panels
EnsemblGeneIds (GRCh38): ENSG00000102393
EnsemblGeneIds (GRCh37): ENSG00000102393
OMIM: 300644, Gene2Phenotype
GLA is in 24 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association, stroke is a feature.Created: 12 Mar 2021, 7:01 a.m. | Last Modified: 12 Mar 2021, 7:01 a.m.
Panel Version: 0.85
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Fabry disease, MIM# 301500
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Fabry disease, MIM# 301500, MONDO:0010526
- OMIM
- 300644
- Clinvar variants
- Variants in GLA
- Penetrance
- None
- Panels with this gene
-
- Renal Tubulopathies and related disorders
- Prepair 500+
- Pain syndromes
- Hypertrophic cardiomyopathy_HCM
- Stroke
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Additional findings_Adult
- Prepair 1000+
- Cardiomyopathy_Paediatric
- Incidentalome_PREGEN_DRAFT
- Hereditary Neuropathy - complex
- Proteinuria
- Brain Calcification
- BabyScreen+ newborn screening
- Vasculitis
- Lysosomal Storage Disorder
- Hydrops fetalis
- Transplant Co-Morbidity Superpanel
- Regression
- Incidentalome
- Early-onset Dementia
- Fetal anomalies
- Additional findings_Paediatric
History Filter Activity
12 Mar 2021, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gla has been classified as Green List (High Evidence).
12 Mar 2021, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: GLA were changed from Fabry disease to Fabry disease, MIM# 301500, MONDO:0010526
22 Apr 2020, 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 Stroke. 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