This Panel is marked as Deleted
Kidneyome_SuperPanel_KidGen_VCGS
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
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Details
- Mode of Inheritance
- Unknown
- Sources
-
- KidGen_MetabolicRenal v38.1.0
- Expert Review Green
- OMIM
- 300644
- Clinvar variants
- Variants in GLA
- Penetrance
- None
- Panels with this gene
-
- Hereditary neuropathy
- Lysosomal storage disorder
- Fetal anomalies
- Fabry disease
- Paediatric or syndromic cardiomyopathy
- Hereditary neuropathy or pain disorder
- Multiple monogenic benign skin tumours
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Dilated Cardiomyopathy and conduction defects
- Cystic kidney disease
- Progressive cardiac conduction disease
- Mucopolysaccharideosis, Gaucher, Fabry
- Hyperammonaemia
- Fetal hydrops
- Cerebral vascular malformations
- Adult onset leukodystrophy
- Paroxysmal central nervous system disorders
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Unexplained kidney failure in young people
- Proteinuric renal disease
- Pain syndromes
- Hypertrophic cardiomyopathy
- Familial cerebral small vessel disease
History Filter Activity
23 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: GLA was added gene: GLA was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_MetabolicRenal v38.1.0 Mode of inheritance for gene: GLA was set to Unknown