TEP1:Ensemblv115

telomerase associated protein 1
OMIM: 601686, ClinGen, DECIPHER

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Amber TEP1 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Cerebral palsy, MONDO:0006497, TEP1-related