Sudden cardiac death - previous panel
Gene: GLAEnsemblGeneIds (GRCh38): ENSG00000102393
EnsemblGeneIds (GRCh37): ENSG00000102393
OMIM: 300644, Gene2Phenotype
GLA is in 25 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
James Eden (Manchester)
Gene currently tested on Manchester cardiac gene panel. 966 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: definitive association with Fabry disease, atypical variant involves HCM (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 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)
Phenotypes
Fabry disease (301500); Fabry disease, cardiac variant (301500)
Publications
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
-
- London South GLH
- North West GLH
- Expert Review Green
- London South GLH
- North West GLH
- Expert Review Green
- Phenotypes
-
- Fabry disease, 301500
- Fabry disease, cardiac variant (301500)
- Fabry disease (301500)
- syndromic HCM
- Fabry disease, cardiac variant, 301500
- Fabry disease (Sphingolipidoses)
- Fabry Disease
- OMIM
- 300644
- Clinvar variants
- Variants in GLA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Multiple monogenic benign skin tumours
- Undiagnosed metabolic disorders
- Dilated Cardiomyopathy and conduction defects
- Adult onset neurodegenerative disorder
- Mucopolysaccharideosis, Gaucher, Fabry
- Hyperammonaemia
- Fetal hydrops
- Cerebral vascular malformations
- Adult onset leukodystrophy
- Paroxysmal central nervous system disorders
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Cystic kidney disease
- Likely inborn error of metabolism
- Unexplained kidney failure in young people
- Progressive cardiac conduction disease
- Hereditary neuropathy or pain disorder
- Proteinuric renal disease
- Pain syndromes
- Hypertrophic cardiomyopathy
- Familial cerebral small vessel disease
- Hereditary neuropathy
- Lysosomal storage disorder
- Fabry disease
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: GLA was added gene: GLA was added to Sudden cardiac death. Sources: Expert Review Green,North West GLH,London South 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 27532257; 28369730 Phenotypes for gene: GLA were set to Fabry disease, 301500; Fabry disease, cardiac variant (301500); Fabry disease (301500); syndromic HCM; Fabry disease, cardiac variant, 301500; Fabry disease (Sphingolipidoses); Fabry Disease