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
-
- Familial cerebral small vessel disease
- Paroxysmal central nervous system disorders
- Fetal anomalies
- Lysosomal storage disorder
- Fabry disease
- Undiagnosed metabolic disorders
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Unexplained kidney failure in young people
- Multiple monogenic benign skin tumours
- Childhood onset dystonia, chorea or related movement disorder
- Dilated Cardiomyopathy and conduction defects
- Mucopolysaccharideosis, Gaucher, Fabry
- Hyperammonaemia
- Adult onset neurodegenerative disorder
- Fetal hydrops
- Cerebral vascular malformations
- Adult onset leukodystrophy
- Likely inborn error of metabolism
- Paediatric or syndromic cardiomyopathy
- Progressive cardiac conduction disease
- Proteinuric renal disease
- Pain syndromes
- Hypertrophic cardiomyopathy
- Cystic kidney disease
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