Proteinuric renal disease
Gene: GLA
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
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
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)
Tag Q3_22_rating was removed from gene: GLA. Tag Q3_22_NHS_review was removed from gene: GLA.
Source Expert Review Green was added to GLA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: gla has been classified as Amber List (Moderate Evidence).
Tag Q3_22_rating tag was added to gene: GLA. Tag Q3_22_NHS_review tag was added to gene: GLA.
Publications for gene: GLA were set to
Phenotypes for gene: GLA were changed from to Fabry disease 301500
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)
Gene: gla has been classified as Amber List (Moderate Evidence).
gene: GLA was added gene: GLA was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: GLA was set to