Proteinuric renal disease
Gene: GLAEnsemblGeneIds (GRCh38): ENSG00000102393
EnsemblGeneIds (GRCh37): ENSG00000102393
OMIM: 300644, Gene2Phenotype
GLA is in 25 panels
3 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 7:07 p.m. | Last Modified: 30 Jan 2023, 7:07 p.m.
Panel Version: 3.3
John Sayer (Newcastle University)
GLA should be a green gene for Proteinuric renal disease
Most common renal presentation is proteinuriaCreated: 26 May 2022, 4:10 p.m. | Last Modified: 26 May 2022, 4:10 p.m.
Panel Version: 2.76
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Proteinuria; albuminuria; end stage kidney disease; cardiomyopathy; stroke
Publications
Eleanor Williams (Genomics England Curator)
Comment on list classification: Following review by an NHS expert, this gene is recommended to be rated as Green following GMS review.Created: 31 Jul 2022, 10:28 p.m. | Last Modified: 31 Jul 2022, 10:28 p.m.
Panel Version: 2.77
Comment on list classification: Rating Amber until a review of the prevalence of proteinuria in Fabry disease patients is done.Created: 26 Mar 2019, 1:38 p.m.
Proteinuria is a feature of Fabry disease, but the GMS renal specialist test group will review how common proteinuria is in patients with this syndrome. Rating Amber for now.Created: 26 Mar 2019, 1:37 p.m.
GLA is associated with Fabry disease (301500) in OMIM with numerous cases reported.Created: 26 Mar 2019, 1:36 p.m.
This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: GLA; Suggested initial gene rating: green; Evidence for inclusion: none provided; Other comments: Proteinuria can present as feature of Fabry disease.Created: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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 301500
- OMIM
- 300644
- Clinvar variants
- Variants in GLA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Unexplained kidney failure in young people
- Multiple monogenic benign skin tumours
- 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
- Progressive cardiac conduction disease
- Cystic kidney disease
- Pain syndromes
- Hypertrophic cardiomyopathy
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Familial cerebral small vessel disease
- Proteinuric renal disease
- Paroxysmal central nervous system disorders
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Lysosomal storage disorder
- Fabry disease
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Removed Tag, Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q3_22_rating was removed from gene: GLA. Tag Q3_22_NHS_review was removed from gene: GLA.
Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source Expert Review Green was added to GLA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: gla has been classified as Amber List (Moderate Evidence).
Added Tag, Added Tag
Eleanor Williams (Genomics England Curator)Tag Q3_22_rating tag was added to gene: GLA. Tag Q3_22_NHS_review tag was added to gene: GLA.
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: GLA were set to
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: GLA were changed from to Fabry disease 301500
Set mode of inheritance
Eleanor Williams (Genomics England Curator)Mode of inheritance for gene: GLA was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: gla has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: GLA was added gene: GLA was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: GLA was set to