GTPBP2

GTP binding protein 2
OMIM: 607434
PanelMode of inheritanceDetails
4 panels
R-numbers: R56
Signed-off version 1.121
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Jaberi-Elahi syndrome, OMIM:617988
R-numbers: R57
Signed-off version 1.137
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Jaberi-Elahi syndrome, 617988
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Jaberi-Elahi syndrome 617988, Global developmental delay, Intellectual disability, Seizures
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Jaberi-Elahi syndrome, 617988, Global developmental delay, Intellectual disability, Seizures