GTPBP2

GTP binding protein 2
OMIM: 607434
PanelMode of inheritanceDetails
5 panels
R-numbers: R56
Signed-off version 3.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Jaberi-Elahi syndrome, OMIM:617988
R-numbers: R57
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Jaberi-Elahi syndrome, 617988
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
JABERI-ELAHI SYNDROME, OMIM:617988
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Jaberi-Elahi syndrome 617988, Global developmental delay, Intellectual disability, Seizures
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Jaberi-Elahi syndrome, 617988, Global developmental delay, Intellectual disability, Seizures