This Panel is marked as Internal
Moyamoya disease
Gene: GLA
GLA (galactosidase alpha)
EnsemblGeneIds (GRCh38): ENSG00000102393
EnsemblGeneIds (GRCh37): ENSG00000102393
OMIM: 300644, Gene2Phenotype
GLA is in 25 panels
EnsemblGeneIds (GRCh38): ENSG00000102393
EnsemblGeneIds (GRCh37): ENSG00000102393
OMIM: 300644, Gene2Phenotype
GLA is in 25 panels
0 reviews
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert list
- OMIM
- 300644
- Clinvar variants
- Variants in GLA
- Penetrance
- Complete
- Panels with this gene
-
- Leukodystrophy, adult onset
- Lysosomal storage disorder
- Paediatric or syndromic cardiomyopathy
- Cerebral vascular malformations
- Undiagnosed metabolic disorders
- Dilated Cardiomyopathy and conduction defects
- Cystic kidney disease
- Mucopolysaccharideosis, Gaucher, Fabry
- Hyperammonaemia
- Fetal anomalies
- Fetal hydrops
- Hypertrophic cardiomyopathy
- Likely inborn error of metabolism
- Progressive cardiac conduction disease
- Unexplained kidney failure in young people
- Dystonia, chorea or related movement disorder, childhood onset
- Proteinuric renal disease
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Pain syndromes
- Fabry disease
- Neurodegenerative disorders, adult onset
- Multiple monogenic benign skin tumours
- Familial cerebral small vessel disease
- Paroxysmal central nervous system disorders
History Filter Activity
30 Mar 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)GLA was created by ellenmcdonagh
30 Mar 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)GLA was added to Moyamoya diseasepanel. Sources: Expert list