Genomics England
GMS Panels
Panels
Genes and Entities

KYNU

kynureninase
OMIM: 605197
PanelMode of inheritanceDetails
4 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Vertebral, cardiac, renal, and limb defects syndrome 2 617661
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism), VACTERL-like phenotype, multiple congenital malformations, ?Hydroxykynureninuria, 236800
Green
in Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Vertebral, cardiac, renal, and limb defects syndrome 2, OMIM:617661, hand hyperphalangism
Green
in Unexplained young onset end-stage renal disease - additional genes
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
multiple congenital malformations, VACTERL-like phenotype, ?Hydroxykynureninuria, 236800, Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism)