Unexplained young onset end-stage renal disease
Gene: APRT
This gene should be promoted to green rating in 'R257 Unexplained young onset end-stage renal disease' panel as it is already green on 'R256 Nephrocalcinosis or nephrolithiasis' panel (https://panelapp.genomicsengland.co.uk/panels/149/gene/APRT/).Created: 10 Jan 2024, 6:52 p.m. | Last Modified: 11 Jan 2024, 10:27 a.m.
Panel Version: 3.21
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adenine phosphoribosyltransferase deficiency, OMIM:614723
Comment on list classification: Although there are enough cases with variants in this gene associated with a relevant phenotype, this gene has been rated as amber on this panel since patients present with nephrolithiaisis and it is likely more appropriate for them to have the Nephrocalcinosis or nephrolithiasis panel applied. The gene is green on the Nephrocalcinosis or nephrolithiasis panel.Created: 8 Nov 2019, 1:10 p.m. | Last Modified: 8 Nov 2019, 1:16 p.m.
Panel Version: 0.56
This gene was added to the 100,000 genomes project ' Unexplained kidney failure in young people' panel at the suggestion of external reviewer John Sayer.
Associated with Adenine phosphoribosyltransferase deficiency (#614723)(AR) in OMIM with renal failure and Urolithiasis listed as clinical features. APRT is green on the Nephrocalcinosis or nephrolithiasis panel (https://panelapp.genomicsengland.co.uk/panels/149/gene/APRT/). > 3 cases reported in OMIM where variants in APRT are associated with Adenine phosphoribosyltransferase deficiency and a renal phenotype.
Homozygous and compound heterozygous variants in APRT are associated with Adenine phosphoribosyltransferase deficiency and can lead to end-stage kidney disease if untreated. End-stage kidney disease can present under 50 years.
Sources: Expert ReviewCreated: 8 Nov 2019, 1:08 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
nterstitial nephritis; chronic kidney disease; end stage renal disease; nephrolithiaisis; Adenine phosphoribosyltransferase deficiency 614723
Publications
Tag Q4_23_promote_green tag was added to gene: APRT.
Phenotypes for gene: APRT were changed from interstitial nephritis; chronic kidney disease; end stage renal disease; nephrolithiaisis; Adenine phosphoribosyltransferase deficiency 614723 to Adenine phosphoribosyltransferase deficiency, OMIM:614723
Gene: aprt has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: APRT were changed from nterstitial nephritis; chronic kidney disease; end stage renal disease; nephrolithiaisis; Adenine phosphoribosyltransferase deficiency 614723 to interstitial nephritis; chronic kidney disease; end stage renal disease; nephrolithiaisis; Adenine phosphoribosyltransferase deficiency 614723
gene: APRT was added gene: APRT was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Mode of inheritance for gene: APRT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: APRT were set to 30355577; 30106368; 25307253; 22212387 Phenotypes for gene: APRT were set to nterstitial nephritis; chronic kidney disease; end stage renal disease; nephrolithiaisis; Adenine phosphoribosyltransferase deficiency 614723 Review for gene: APRT was set to AMBER