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Undiagnosed metabolic disorders

Gene: KYNU

Green List (high evidence)

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

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

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: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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

11 Aug 2017, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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

11 Aug 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for KYNU were set to 27604308;17334708;28792876

27 Feb 2017, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added

24 Feb 2017, Gel status: 1

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

KYNU was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Red Model of inheritance for gene KYNU was set to BIALLELIC, autosomal or pseudoautosomal

28 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

KYNU was created by sleigh

28 Oct 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

KYNU was added to Undiagnosed metabolic disorderspanel. Sources: Literature