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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. |
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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) |
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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. |
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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 |