Inborn errors of metabolismGene: KYNU
Comment on list classification: Confirmed with the clinical team that there is now enough evidence to make this gene green.
Created: 5 Sep 2017, 9:53 a.m.
Comment on list classification: 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: 11 Aug 2017, 8:35 a.m.
1 confirmed Hydroxykynureninuria case (PMID:17334708).
Created: 23 Feb 2017, 5:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Source NHS GMS was added to KYNU. Source London North GLH was added to KYNU.
Ellen McDonagh: Comment on mode of pathogenici
gene: KYNU was added gene: KYNU was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: KYNU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KYNU were set to 27604308; 17334708; 28792876 Phenotypes for gene: KYNU were set to Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism); VACTERL-like phenotype; multiple congenital malformations; ?Hydroxykynureninuria, 236800