TK1

thymidine kinase 1
OMIM: 188300, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber TK1 in Mendeliome


Version 2.516

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Other
  • Other
Phenotypes
  • Thoracolaryngopelvic dysplasia, MONDO:0008551

Amber TK1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.122

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Thoracolaryngopelvic dysplasia, MONDO:0008551

Amber TK1 in Fetal anomalies


Version 2.66

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Other
  • Other
Phenotypes
  • Thoracolaryngopelvic dysplasia, MONDO:0008551