KYNU

PanelMode of inheritanceDetails
4 panels
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Vertebral, cardiac, renal, and limb defects syndrome 2 617661
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 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism), VACTERL-like phenotype, multiple congenital malformations, ?Hydroxykynureninuria, 236800
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Vertebral, cardiac, renal, and limb defects syndrome 2, OMIM:617661, hand hyperphalangism
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Vertebral, cardiac, renal, and limb defects syndrome 2, OMIM:617661