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Proteinuric renal disease v3.3 GLA Sarah Leigh Tag Q3_22_rating was removed from gene: GLA.
Tag Q3_22_NHS_review was removed from gene: GLA.
Proteinuric renal disease v3.3 GLA Sarah Leigh reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Proteinuric renal disease v3.2 GLA Sarah Leigh Source Expert Review Green was added to GLA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Proteinuric renal disease v2.77 GLA Eleanor Williams Classified gene: GLA as Amber List (moderate evidence)
Proteinuric renal disease v2.77 GLA Eleanor Williams Added comment: Comment on list classification: Following review by an NHS expert, this gene is recommended to be rated as Green following GMS review.
Proteinuric renal disease v2.77 GLA Eleanor Williams Gene: gla has been classified as Amber List (Moderate Evidence).
Proteinuric renal disease v2.76 GLA Eleanor Williams Tag Q3_22_rating tag was added to gene: GLA.
Tag Q3_22_NHS_review tag was added to gene: GLA.
Proteinuric renal disease v2.76 GLA John Sayer reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33928440, PMID: 33437642; Phenotypes: Proteinuria, albuminuria, end stage kidney disease, cardiomyopathy, stroke; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Proteinuric renal disease v1.31 GLA Eleanor Williams Publications for gene: GLA were set to
Proteinuric renal disease v1.30 GLA Eleanor Williams Phenotypes for gene: GLA were changed from to Fabry disease 301500
Proteinuric renal disease v1.29 GLA Eleanor Williams 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)
Proteinuric renal disease v1.28 GLA Eleanor Williams Classified gene: GLA as Amber List (moderate evidence)
Proteinuric renal disease v1.28 GLA Eleanor Williams Added comment: Comment on list classification: Rating Amber until a review of the prevalence of proteinuria in Fabry disease patients is done.
Proteinuric renal disease v1.28 GLA Eleanor Williams Gene: gla has been classified as Amber List (Moderate Evidence).
Proteinuric renal disease v1.27 GLA Eleanor Williams commented on gene: GLA: 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.
Proteinuric renal disease v1.27 GLA Eleanor Williams commented on gene: GLA: GLA is associated with Fabry disease (301500) in OMIM with numerous cases reported.
Proteinuric renal disease v1.16 GLA Eleanor Williams reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Proteinuric renal disease v1.15 GLA Eleanor Williams gene: GLA was added
gene: GLA was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: GLA was set to