Progressive cardiac conduction disease
Gene: GLAEnsemblGeneIds (GRCh38): ENSG00000102393
EnsemblGeneIds (GRCh37): ENSG00000102393
OMIM: 300644, Gene2Phenotype
GLA is in 25 panels
2 reviews
Kate Thomson (Oxford University Hospitals Foundation Trust)
Submitted on behalf of the GMS Cardiology specialist group. This gene did not achieve a consensus Green rating; however, the group agreed that the existing evidence (published and in-house data) was sufficient to support inclusion in this panel.Created: 9 Dec 2019, 1:19 p.m. | Last Modified: 9 Dec 2019, 1:19 p.m.
Panel Version: 0.46
Ivone Leong (Genomics England Curator)
New gene submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.Created: 2 Dec 2019, 10:38 a.m. | Last Modified: 2 Dec 2019, 10:38 a.m.
Panel Version: 0.30
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
- NHS GMS
- Phenotypes
-
- Fabry disease, cardiac variant, OMIM:301500
- OMIM
- 300644
- Clinvar variants
- Variants in GLA
- Penetrance
- None
- Panels with this gene
-
- Hereditary neuropathy
- Unexplained kidney failure in young people
- Multiple monogenic benign skin tumours
- Fetal anomalies
- Dilated Cardiomyopathy and conduction defects
- Mucopolysaccharideosis, Gaucher, Fabry
- Adult onset leukodystrophy
- Hyperammonaemia
- Fetal hydrops
- Cerebral vascular malformations
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary neuropathy or pain disorder
- Progressive cardiac conduction disease
- Cystic kidney disease
- Pain syndromes
- Hypertrophic cardiomyopathy
- Paediatric or syndromic cardiomyopathy
- Familial cerebral small vessel disease
- Proteinuric renal disease
- Paroxysmal central nervous system disorders
- Undiagnosed metabolic disorders
- Lysosomal storage disorder
- Fabry disease
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: GLA were changed from Fabry disease, cardiac variant, 301500 to Fabry disease, cardiac variant, OMIM:301500
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to GLA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: GLA were changed from to Fabry disease, cardiac variant, 301500
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: GLA was added gene: GLA was added to Progressive cardiac conduction disease. Sources: NHS GMS,Expert Review Amber 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)