VACTERL-like phenotypes

Gene: KYNU

Green List (high evidence)

KYNU (kynureninase)
EnsemblGeneIds (GRCh38): ENSG00000115919
EnsemblGeneIds (GRCh37): ENSG00000115919
OMIM: 605197, Gene2Phenotype
KYNU is in 10 panels

1 review

Ellen McDonagh (Genomics England Curator)

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.
A homozygous missense variant in this gene has been reported in a boy with jaundice and vomiting, who had massive urinary excretion of xanthurenic acid, 3-hydroxykynurenine and kynurenine, known as xanthurenic aciduria or hydroxykynureninuria - PMID:17334708.
Created: 11 Aug 2017, 8:44 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, 8:38 a.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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism)
  • ?Hydroxykynureninuria, 236800
  • multiple congenital malformations
  • VACTERL-like phenotype
Tags
treatable
OMIM
605197
Clinvar variants
Variants in KYNU
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

5 Sep 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 Aug 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

11 Aug 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

KYNU was added to VACTERL-like phenotypespanel. Sources: Literature

11 Aug 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

KYNU was created by ellenmcdonagh