Cardiomyopathy_Paediatric
Gene: GLAEnsemblGeneIds (GRCh38): ENSG00000102393
EnsemblGeneIds (GRCh37): ENSG00000102393
OMIM: 300644, Gene2Phenotype
GLA is in 24 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
HCM can be a presenting feature of Fabry.Created: 29 Jul 2020, 6:50 a.m. | Last Modified: 5 Aug 2020, 6:59 a.m.
Panel Version: 0.146
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)
Ain Roesley (Victorian Clinical Genetics Services)
PMID: 30681346
- curated as a syndromic gene by ClinGen hypertrophic cardiomyopathy (HCM) working group
DEFINITIVE in clingen for Fabry disease.
No evidence of association with isolated HCMCreated: 29 Jul 2020, 4:44 a.m. | Last Modified: 29 Jul 2020, 4:44 a.m.
Panel Version: 0.89
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
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
- South West GLH
- NHS GMS
- Expert Review Amber
- MetBioNet
- London South GLH
- Victorian Clinical Genetics Services
- Phenotypes
-
- Fabry disease, cardiac variant, 301500
- Fabry disease (Sphingolipidoses)
- Fabry disease, 301500
- Fabry Disease
- HCM
- syndromic HCM
- Limb pain, angiokeratom
- Fabry disease
- HCM is a late complication in adults, also found in female carriers
- 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
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GLA was added gene: GLA was added to Cardiomyopathy_Paediatric. Sources: London South GLH,MetBioNet,Expert Review Amber,NHS GMS,South West GLH 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) Publications for gene: GLA were set to 27604308 Phenotypes for gene: GLA were set to Fabry disease, cardiac variant, 301500; Fabry disease (Sphingolipidoses); Fabry disease, 301500; Fabry Disease; HCM; syndromic HCM; Limb pain, angiokeratom; Fabry disease; HCM is a late complication in adults, also found in female carriers