KYNU

kynureninase
OMIM: 605197, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green KYNU in VACTERL-like phenotypes Level 3: Limb disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.34	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism) ?Hydroxykynureninuria, 236800 multiple congenital malformations VACTERL-like phenotype Tags treatable
Green KYNU in Limb disorders Version 4.21 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Vertebral, cardiac, renal, and limb defects syndrome 2, OMIM:617661 hand hyperphalangism
Green KYNU in CAKUT Level 3: Structural renal and urinary tract disease Level 2: Renal and urinary tract disorders Version 1.176 Component of the following Super Panels: Renal superpanel - broad Renal superpanel - narrow	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism) ?Hydroxykynureninuria, 236800 multiple congenital malformations VACTERL-like phenotype Tags treatable
Green KYNU in Unexplained young onset end-stage renal disease Version 3.41 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes ?Hydroxykynureninuria, 236800 multiple congenital malformations VACTERL-like phenotype Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism)
Green KYNU in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism) ?Hydroxykynureninuria, 236800 multiple congenital malformations VACTERL-like phenotype Tags treatable
Green KYNU in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism) VACTERL-like phenotype multiple congenital malformations ?Hydroxykynureninuria, 236800
Green KYNU in Fetal anomalies Version 3.164 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green PAGE Additional Gene List Phenotypes Vertebral, cardiac, renal, and limb defects syndrome 2 617661
Red KYNU in Childhood onset dystonia, chorea or related movement disorder Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH
Green KYNU in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes ?Hydroxykynureninuria, 236800 Vertebral, cardiac, renal, and limb defects syndrome 2, 617661