KYNU

kynureninase
OMIM: 605197, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green KYNU in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic


Level 2: Renal and urinary tract disorders
Version 0.145

Component of the following Super Panels:

  • Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel
  • Kidneyome_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Vertebral, cardiac, renal, and limb defects syndrome 2, MIM#617661

    Green KYNU in Congenital Heart Defect


    Level 2: Cardiovascular disorders
    Version 0.430

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Literature
    Phenotypes
    • Vertebral, cardiac, renal, and limb defects syndrome 2, MIM# 617661

    Green KYNU in Mendeliome


    Version 1.2374

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hydroxykynureninuria MIM#236800
    • Vertebral, cardiac, renal, and limb defects syndrome 2 MIM#617661
    • Disorders of histidine, tryptophan or lysine metabolism

    Red KYNU in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review Unknown
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • Hydroxykynureninuria, MIM#236800

    Green KYNU in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 1.48

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Hydroxykynureninuria MIM#236800
    • Vertebral, cardiac, renal, and limb defects syndrome 2 MIM#617661
    • Disorders of histidine, tryptophan or lysine metabolism

    Green KYNU in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Vertebral, cardiac, renal, and limb defects syndrome 2 , MIM#617661

    Green KYNU in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 1.133

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • vertebral, cardiac, renal, and limb defects syndrome 2 MONDO:0060555