Miscellaneous Metabolic Disorders

Gene: KYNU

Green List (high evidence)

KYNU (kynureninase)
EnsemblGeneIds (GRCh38): ENSG00000115919
EnsemblGeneIds (GRCh37): ENSG00000115919
OMIM: 605197, Gene2Phenotype
KYNU is in 7 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 6 unrelated cases reported with biallelic variants, and a supporting null mouse model
Sources: NHS GMS
Created: 5 Feb 2021, 3:21 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hydroxykynureninuria MIM#236800; Vertebral, cardiac, renal, and limb defects syndrome 2 MIM#617661; Disorders of histidine, tryptophan or lysine metabolism

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hydroxykynureninuria MIM#236800
  • Vertebral, cardiac, renal, and limb defects syndrome 2 MIM#617661
  • Disorders of histidine, tryptophan or lysine metabolism
OMIM
605197
Clinvar variants
Variants in KYNU
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: kynu has been classified as Green List (High Evidence).

5 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: kynu has been classified as Green List (High Evidence).

5 Feb 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: KYNU was added gene: KYNU was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: KYNU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KYNU were set to 17334708; 28792876; 31923704 Phenotypes for gene: KYNU were set to Hydroxykynureninuria MIM#236800; Vertebral, cardiac, renal, and limb defects syndrome 2 MIM#617661; Disorders of histidine, tryptophan or lysine metabolism Review for gene: KYNU was set to GREEN