This Panel is marked as Internal
Renal and urinary tract 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
3 reviews
Eleanor Williams (Genomics England Curator)
Comment on list classification: Gene reviewed as green by Daniel Gale on the Unexplained paediatric onset end-stage renal disease panel (678) on 2019-05-08 and was subsequently upgraded to Green on the End-stage renal disease - childhood onset panel (156) which was a source panel for this merge panel.
Therefore upgrading to green here. Sufficient cases to associate with Fabry disease which may present with renal limited disease.Created: 4 Jul 2019, 1:55 p.m. | Last Modified: 4 Jul 2019, 1:55 p.m.
Panel Version: 1.18
Miranda Durkie (Genetics)
Ellen Thomas (Genomics England Curator)
Comment on list classification: Fabry disease.Created: 10 May 2016, 10:16 a.m.
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
- Phenotypes
-
- enal insufficiency
- renal failure
- Fabry disease, 301500
- OMIM
- 300644
- Clinvar variants
- Variants in GLA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- 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
- Childhood onset dystonia, chorea or related movement disorder
- Paediatric or syndromic cardiomyopathy
- Unexplained kidney failure in young people
- Progressive cardiac conduction disease
- Hereditary neuropathy or pain disorder
- Proteinuric renal disease
- Pain syndromes
- Hypertrophic cardiomyopathy
- Cystic kidney disease
- Fetal anomalies
- Familial cerebral small vessel disease
- Hereditary neuropathy
- Lysosomal storage disorder
- Fabry disease
History Filter Activity
4 Jul 2019, Gel status: 3
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: gla has been classified as Green List (High Evidence).
4 Jul 2019, Gel status: 1
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: GLA were changed from to enal insufficiency; renal failure; Fabry disease, 301500
4 Jul 2019, Gel status: 1
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: GLA were set to
30 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ellen Thomas: Comment on list classification
20 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: GLA was added gene: GLA was added to Renal and urinary tract disorders. Sources: Expert Review Red 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)