Hypertrophic cardiomyopathy_HCM
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
- Victorian Clinical Genetics Services
- 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
- 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
- Additional findings_Adult
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: GLA were changed from Fabry disease (MIM# 301500) to Fabry disease (MIM# 301500)
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 publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: GLA were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: GLA was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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 Hypertrophic cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GLA was set to Unknown