TK2

thymidine kinase 2
OMIM: 188250, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green TK2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM#609560
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, MIM# 617069

Green TK2 in Rhabdomyolysis and Metabolic Myopathy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560

Green TK2 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3)

Green TK2 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome 2 (myopathic type) MIM#609560

Green TK2 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560
Tags
  • treatable
  • metabolic

Green TK2 in Prepair 500+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM#609560