This Panel is marked as Internal
Undiagnosed neurocutaneous disorders
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
- Sources
-
- Literature
- Phenotypes
-
- Fabry disease, 301500
- OMIM
- 300644
- Clinvar variants
- Variants in GLA
- Penetrance
- Complete
- Panels with this gene
-
- Adult onset leukodystrophy
- Cerebral vascular malformations
- Undiagnosed metabolic disorders
- Dilated Cardiomyopathy and conduction defects
- Paediatric or syndromic cardiomyopathy
- Mucopolysaccharideosis, Gaucher, Fabry
- Childhood onset dystonia, chorea or related movement disorder
- Hyperammonaemia
- Fetal hydrops
- Paroxysmal central nervous system disorders
- Lysosomal storage disorder
- Progressive cardiac conduction disease
- Adult onset neurodegenerative disorder
- Hereditary neuropathy or pain disorder
- Hypertrophic cardiomyopathy
- Unexplained kidney failure in young people
- Cystic kidney disease
- Pain syndromes
- Likely inborn error of metabolism
- Familial cerebral small vessel disease
- Hereditary neuropathy
- Fetal anomalies
- Proteinuric renal disease
- Multiple monogenic benign skin tumours
- Fabry disease
History Filter Activity
11 May 2017, Gel status: 0
Added New Source
Rebecca Foulger (Genomics England curator)GLA was added to Undiagnosed neurocutaneous disorderspanel. Sources: Literature
11 May 2017, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)GLA was created by rfoulger