TYMS:Ensemblv115

thymidylate synthetase
OMIM: 188350, ClinGen, DECIPHER

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Amber TYMS in Bone Marrow Failure


Level 2: Haematological disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Dyskeratosis congenita, digenic, MIM#620040
Tags
  • digenic