DTYMK

deoxythymidylate kinase
OMIM: 188345, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green DTYMK in Mendeliome


Version 1.2302

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodegeneration, childhood-onset, with progressive microcephaly (MIM# 619847)

Green DTYMK in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.295

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodegeneration, childhood-onset, with progressive microcephaly (MIM# 619847)

Amber DTYMK in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.108

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • Neurodegeneration, childhood-onset, with progressive microcephaly (MIM# 619847)

    Green DTYMK in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.572

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Neurodegeneration, childhood-onset, with progressive microcephaly (MIM# 619847)

    Green DTYMK in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodegeneration, childhood-onset, with progressive microcephaly (MIM# 619847)