TKFC

triokinase and FMN cyclase
OMIM: 615844, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber TKFC in Cataract


Level 2: Ophthalmological disorders
Version 0.366

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Triokinase and FMN cyclase deficiency syndrome, MIM#618805
  • Developmental delay
  • cataracts
  • liver dysfunction

Amber TKFC in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Triokinase and FMN cyclase deficiency syndrome, MIM#618805
  • Inborn error of immunity, MONDO:0003778, TKFC-related

Red TKFC in Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.66

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Inborn error of immunity, MONDO:0003778, TKFC-related

    Amber TKFC in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Triokinase and FMN cyclase deficiency syndrome, MIM#618805
    • Developmental delay
    • cataracts
    • liver dysfunction

    Amber TKFC in Liver Failure_Paediatric


    Level 2: Gastroenterological disorders
    Version 1.24

    Component of the following Super Panels:

  • Liverome Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Triokinase and FMN cyclase deficiency syndrome, MIM#618805
    • Developmental delay
    • cataracts
    • liver dysfunction