Dilated Cardiomyopathy and conduction defects
Gene: GLAEnsemblGeneIds (GRCh38): ENSG00000102393
EnsemblGeneIds (GRCh37): ENSG00000102393
OMIM: 300644, Gene2Phenotype
GLA is in 25 panels
2 reviews
Rebecca Whittington (South West GLH)
Fabry disease OMIM# 301500; Fabry disease, cardiac variant OMIM#301500Created: 25 Mar 2019, 4:30 p.m.
HCM phenocopyCreated: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Variants in this GENE are reported as part of current diagnostic practice
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Variants in this GENE are reported as part of current diagnostic practice
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
-
- South West GLH
- Oxford Medical Genetics Laboratory
- OMIM
- 300644
- Clinvar variants
- Variants in GLA
- Penetrance
- Complete
- Panels with this gene
-
- Leukodystrophy, adult onset
- Lysosomal storage disorder
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Dystonia, chorea or related movement disorder, childhood onset
- Cerebral vascular malformations
- Undiagnosed metabolic disorders
- Dilated Cardiomyopathy and conduction defects
- Mucopolysaccharideosis, Gaucher, Fabry
- Hyperammonaemia
- Fetal hydrops
- Cystic kidney disease
- Hypertrophic cardiomyopathy
- Hereditary neuropathy or pain disorder
- Progressive cardiac conduction disease
- Likely inborn error of metabolism
- Unexplained kidney failure in young people
- Hereditary neuropathy
- Pain syndromes
- Fabry disease
- Neurodegenerative disorders, adult onset
- Multiple monogenic benign skin tumours
- Familial cerebral small vessel disease
- Proteinuric renal disease
- Paroxysmal central nervous system disorders
History Filter Activity
Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to GLA. Mode of inheritance for gene GLA was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added New Source
Ellen McDonagh (Genomics England Curator)GLA was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Oxford Medical Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)GLA was created by ellenmcdonagh