KYNU

PanelMode of inheritanceDetails
4 panels
R-numbers: R21, R412
Signed-off version 3.122
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 4.78
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 4.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Vertebral, cardiac, renal, and limb defects syndrome 2, OMIM:617661, hand hyperphalangism
R-numbers: R257
Signed-off version 3.11
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Hydroxykynureninuria, 236800, multiple congenital malformations, VACTERL-like phenotype, Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism)