Renal tubulopathiesGene: REN
Comment on list classification: Changing rating from red to green as > 3 cases reported.
Created: 5 Sep 2019, 8:34 p.m. | Last Modified: 5 Sep 2019, 8:34 p.m.
Panel Version: 1.146
Comment on mode of inheritance: Hyperuricemic nephropathy, familial juvenile 2 shows monoallelic and Renal tubular dysgenesis show biallelic inheritance.
Created: 5 Sep 2019, 8:32 p.m. | Last Modified: 5 Sep 2019, 8:32 p.m.
Panel Version: 1.144
Associated with Hyperuricemic nephropathy, familial juvenile 2 #613092 (AD) and Renal tubular dysgenesis #267430 (AR) in OMIM.
Gribouval et al 2012 (PMID: 22095942) - lists 12 different variants in REN as causing Renal Tublular Dysgenesis, including those reported in this study and Gribouval et al 2005 (PMID: 16116425), Michaud et al. (PMID: 21036942) and Bacchetta et al. (PMID: 17555949).
PMID: 19664745 - Zivna et al 2009 - identified three unrelated families with the autosomal-dominant inheritance of early onset anemia, hypouricosuric hyperuricemia, progressive kidney failure, and mutations resulting either in the deletion (p.Leu16del) or the amino acid exchange (p.Leu16Arg) of a single leucine residue in the signal sequence of renin.
Created: 31 Aug 2019, 6:13 p.m. | Last Modified: 31 Aug 2019, 6:15 p.m.
Panel Version: 1.82
This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group; Gene Symbol submitted: REN; Suggested initial gene rating: green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided
Created: 3 Feb 2019, 11:32 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hyperuricemic nephropathy, familial juvenile 2, MIM 613092; Also Renal tubular dysgenesis MIM 267430 AR
Variants in this GENE are reported as part of current diagnostic practice
Gene: ren has been classified as Green List (High Evidence).
Publications for gene: REN were set to
Mode of inheritance for gene: REN was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of inheritance for gene: REN was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: REN were changed from to Hyperuricemic nephropathy, familial juvenile 2, 613092; Renal tubular dysgenesis 267430 AR
gene: REN was added gene: REN was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: REN was set to