1. Genes and Genomic Entities
  2. TKFC

TKFC

triokinase and FMN cyclase
OMIM: 615844, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Amber TKFC in Bilateral congenital or childhood onset cataracts


Level 2: Ophthalmology
Version 8.6
Latest signed off version: v8.5 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Triokinase and FMN cyclase deficiency syndrome, 618805
Tags
  • watchlist
Amber TKFC in Likely inborn error of metabolism


Level 2: Metabolic
Version 9.30
Latest signed off version: v9.29 (12 Aug 2026)

Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Triokinase and FMN cyclase deficiency syndrome, 618805
    Tags
    • watchlist
    Red TKFC in DDG2P


    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • TKFC-related Cataracts and Multisystem Disease
    Amber TKFC in Intellectual disability


    Level 2: Developmental disorders
    Version 11.1
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Triokinase and FMN cyclase deficiency syndrome, 618805
    Tags
    • watchlist
    Amber TKFC in Paediatric or syndromic cardiomyopathy


    Level 2: Cardiology
    Version 8.5
    Latest signed off version: v8.4 (12 Aug 2026)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Triokinase and FMN cyclase deficiency syndrome, OMIM:618805
    • triokinase and FMN cyclase deficiency syndrome, MONDO:0032927
    • cardiomyopathy, MONDO:0004994
    Tags
    • watchlist