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| 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 v1.79 | APRT | Eleanor Williams Classified gene: APRT as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v1.79 | APRT | Eleanor Williams Gene: aprt has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained kidney failure in young people v1.78 | APRT | Eleanor Williams Publications for gene: APRT were set to 30355577 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained kidney failure in young people v1.77 | APRT | Eleanor Williams Classified gene: APRT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained kidney failure in young people v1.77 | APRT | Eleanor Williams Added comment: Comment on list classification: There are more than 3 cases where homozygous or compound heterozygous variants in APRT have been reported in patients with Adenine phosphoribosyltransferase deficiency. PMID: 30106368 and PMID: 25307253 report cases in which end-stage renal disease has been observed under the age of 50. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained kidney failure in young people v1.77 | APRT | Eleanor Williams Gene: aprt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained kidney failure in young people v1.76 | APRT | Eleanor Williams Phenotypes for gene: APRT were changed from interstitial nephritis; chronic kidney disease; end stage renal disease; nephrolithiaisis to interstitial nephritis; chronic kidney disease; end stage renal disease; nephrolithiaisis; Adenine phosphoribosyltransferase deficiency 614723 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained kidney failure in young people v1.75 | APRT | Eleanor Williams commented on gene: APRT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained kidney failure in young people v1.74 | APRT |
John Sayer gene: APRT was added gene: APRT was added to Unexplained kidney failure in young people. Sources: Expert list Mode of inheritance for gene: APRT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: APRT were set to 30355577 Phenotypes for gene: APRT were set to interstitial nephritis; chronic kidney disease; end stage renal disease; nephrolithiaisis Penetrance for gene: APRT were set to Complete Review for gene: APRT was set to GREEN Added comment: Sources: Expert list |
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