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  2. Likely inborn error of metabolism
  3. KYNU
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Likely inborn error of metabolism

Gene: KYNU

Green List (high evidence)
KYNU (kynureninase)
EnsemblGeneIds (GRCh38): ENSG00000115919
EnsemblGeneIds (GRCh37): ENSG00000115919
OMIM: 605197, Gene2Phenotype
KYNU is in 8 panels

2 reviews

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.
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.
Created: 11 Aug 2017, 8:29 a.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 1.58

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

1 confirmed Hydroxykynureninuria case (PMID:17334708).
Created: 23 Feb 2017, 5:14 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Hydroxykynureninuria, 236800

Publications

Created: 23 Feb 2017, 5:14 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism)
  • VACTERL-like phenotype
  • multiple congenital malformations
  • ?Hydroxykynureninuria, 236800
OMIM
605197
Clinvar variants
Variants in KYNU
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to KYNU. Source London North GLH was added to KYNU.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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