Brain Calcification
Gene: GLAEnsemblGeneIds (GRCh38): ENSG00000102393
EnsemblGeneIds (GRCh37): ENSG00000102393
OMIM: 300644, Gene2Phenotype
GLA is in 24 panels
1 review
Yetong Chen (University of Melbourne)
PMID 17224688 suggests Fabry disease should not be considered an X-linked recessive disorder since women carrying heterozygous GLA variants may experience significant life-threatening conditions.
The association between brain calcification and Fabry disease is well-established. However, no cases with GLA variants that developed brain calcification are reported in the literature.
Sources: Expert listCreated: 11 Apr 2023, 1:39 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Fabry disease, MIM# 301500
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Fabry disease, MIM# 301500
- OMIM
- 300644
- Clinvar variants
- Variants in GLA
- Penetrance
- None
- Publications
- 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 Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gla has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Yetong Chen (University of Melbourne)gene: GLA was added gene: GLA was added to Brain Calcification. Sources: Expert list 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 32734340; 24372060; 30532363 Phenotypes for gene: GLA were set to Fabry disease, MIM# 301500 Review for gene: GLA was set to AMBER