Unexplained young onset end-stage renal disease - additional genes

Gene: KYNU

Green List (high evidence)

This gene has been added to this panel with green rating as it was present in R257 Unexplained young onset end-stage renal disease panel (v5.1) with the same rating before it was made a super panel.

Created: 25 Sep 2024, 9:36 p.m. | Last Modified: 25 Sep 2024, 9:36 p.m.

Panel Version: 0.65

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

I don't know

Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of Green

Created: 9 Apr 2019, 11:17 a.m.

Comment on list classification: Confirmed with the clinical team that there is enough evidence to make this gene green.

Created: 5 Sep 2017, 9:53 a.m.

Two unrelated cases are reported in a new publication PMID: 28792876. One case in a consanguineous Lenanese family was found to be homozygous for a stop codon, both parents were heterozygous, and unaffected siblings were either homozyous for the wildtype allele or heterozygous. The second case in an American family, was compound heterozygous for two stop codons - one from each parent. In vitro studies show the variants results in reduced enzyme activity within the NAD de novo synthesis pathway, and knockout mouse model embryos develop similar defects to the patients. Added the 'treatable' tag to indicate that naicin supplementation during gestation prevented the malformations in the null mice.

Created: 14 Aug 2017, 12:12 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism); ?Hydroxykynureninuria, 236800; multiple congenital malformations; VACTERL-like phenotype

Publications

• 27604308
• 17334708
• 28792876