1. Genes and Genomic Entities
  2. DTYMK

DTYMK

deoxythymidylate kinase
OMIM: 188345, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green DTYMK in Early onset or syndromic epilepsy


Level 2: Neurology
Version 8.147
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Global developmental delay
    • Intellectual disability
    • Microcephaly
    • Seizures
    • Global brain atrophy
    • Cardiorespiratory arrest
    Green DTYMK in Intellectual disability


    Level 2: Developmental disorders
    Version 9.304
    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 Green
    • NHS GMS
    • Literature
    Phenotypes
    • Global developmental delay
    • Intellectual disability
    • Microcephaly
    • Seizures
    • Global brain atrophy
    • Cardiorespiratory arrest