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 7.6
Latest signed off version: v7.0 (30 Apr 2025)

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 8.91
Latest signed off version: v8.0 (30 Apr 2025)

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
    • Expert Review Amber
    • Literature
    Phenotypes
    • Triokinase and FMN cyclase deficiency syndrome, 618805
    Tags
    • watchlist
    Red TKFC in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    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 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • 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 7.96
    Latest signed off version: v7.0 (30 Apr 2025)

    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