Genomics England
GMS Panels
Panels
Genes and Entities

GTPBP1

GTP binding protein 1
OMIM: 602245
PanelMode of inheritanceDetails
1 panel
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GTPBP1-related neurodevelopmental disorder with severe-profound intellectual disability, spasticity and ectodermal features.