Genomics England

kynureninase

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	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 6.14	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 6.2	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 Vertebral, cardiac, renal, and limb defects syndrome 2, OMIM:617661