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Unexplained kidney failure in young people v1.81 FAN1 Eleanor Williams Added comment: Comment on list classification: After consultation with the Genomics England clinical team, rating this gene green as relevant phenotype with onset in 20s-30s is appropriate for this panel.
Unexplained kidney failure in young people v1.80 APRT Eleanor Williams commented on gene: APRT: After consultation with the Genomics England clinical team it has been decided to keep this gene amber on this panel. It is green on the Nephrocalcinosis or nephrolithiasis panel (https://panelapp.genomicsengland.co.uk/panels/149/) which is considered the more appropriate panel.
Unexplained kidney failure in young people v1.80 FAN1 Eleanor Williams Added comment: Comment on list classification: Downgrading from green to amber while consulting with the Genomics England clinical team as to the suitability of this gene as the age of onset for renal disease is from 30 year old onwards.
Unexplained kidney failure in young people v1.79 APRT Eleanor Williams Added comment: Comment on list classification: Downgrading from Green to Amber as presence of Nephrolithiasis is part of the exclusion criteria. Will consult with the Genomics England clinical team as to whether this gene should be included on this panel or not.
Unexplained kidney failure in young people v1.71 GLA Eleanor Williams Classified gene: GLA as Green List (high evidence)
Unexplained kidney failure in young people v1.71 GLA Eleanor Williams Added comment: Comment on list classification: After consultation with the Genomics England clinical team it was decided to rate this gene green on the 100K panel.
Unexplained kidney failure in young people v1.71 GLA Eleanor Williams Gene: gla has been classified as Green List (High Evidence).
Unexplained kidney failure in young people v1.70 GLA Eleanor Williams Phenotypes for gene: GLA were changed from to renal insufficiency; renal failure; Fabry disease, 301500
Unexplained kidney failure in young people v1.69 GLA Eleanor Williams Publications for gene: GLA were set to
Unexplained kidney failure in young people v1.68 GLA Eleanor Williams changed review comment from: This gene has been reviewed by Daniel Gale on the Unexplained paediatric onset end-stage renal disease panel 2019-05-08.; to: This gene has been reviewed by Daniel Gale on the Unexplained paediatric onset end-stage renal disease panel 2019-05-08. He states that "Fabry disease may present with renal limited disease, including presentation at end stage renal failure with no other clinical features (typically in young adults in their 20s). This has been repeatedly described in cohorts of people with kidney failure, ascertained either using biochemical or genetic screening."
Unexplained kidney failure in young people v1.68 GLA Eleanor Williams commented on gene: GLA: GLA is associated with Fabry disease (#301500) in OMIM

PMID: 28006774 - Turkmen et al 2016 - 3 out of 313 chronic kidney disease patients not receiving renal replacement therapy (0.95%) were diagnosed of Fabry disease by GLA gene mutation analysis. The age of the patients and their family members with Fabry disease ( total number =11) was 41.3 +/- 14.5.

PMID: 15861341 - Cybulla et al 2005 - describe a family presenting with chronic renal failure and proteinuria in which classic skin and neurological features were absent and the diagnosis of Fabry disease was difficult and not established until a second family member developed renal abnormalities. The index patient was 35 years old. Analysis of the alpha-GLA gene showed the mutation E66K. The mutation also was found in another asymptomatic 30-year-old brother who also had chronic renal failure and proteinuria, but normal extrarenal findings. Mutation carriers also included the mother, a sister (both without abnormalities), and a nephew (with episodic pains in his feet).

PMID: 15100373 - Kotanko et al 2004 - Nationwide screening of Anderson-Fabry disease among dialysis patients in Austria. Individuals with decreased leukocyte AGAL activity were subjected to mutation testing in the GLA gene, Genetic testing revealed mutations associated with Fabry disease in all four men with severely decreased AGAL activity resulting in a prevalence of 0.161% for the entire study population. Age at start of dialysis ranged from 27 to 53.
Unexplained kidney failure in young people v1.68 GLA Eleanor Williams commented on gene: GLA