Additional findings_Adult
Gene: GLAEnsemblGeneIds (GRCh38): ENSG00000102393
EnsemblGeneIds (GRCh37): ENSG00000102393
OMIM: 300644, Gene2Phenotype
GLA is in 24 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
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
- Melbourne Genomics Health Alliance
- Phenotypes
-
- Fabry disease, MIM# 301500
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gla has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: GLA were changed from to Fabry disease, MIM# 301500
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: GLA was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GLA was added gene: GLA was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: GLA was set to Unknown