Genomics England
GMS Panels
Panels
Genes and Entities

GTPBP2

GTP binding protein 2
OMIM: 607434
PanelMode of inheritanceDetails
6 panels
Green
in Adult onset dystonia, chorea or related movement disorder
R-numbers: R56
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Jaberi-Elahi syndrome, OMIM:617988
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Jaberi-Elahi syndrome, 617988
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
JABERI-ELAHI SYNDROME, OMIM:617988
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Jaberi-Elahi syndrome 617988, Global developmental delay, Intellectual disability, Seizures
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Jaberi-Elahi syndrome, OMIM:617988
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Jaberi-Elahi syndrome, 617988, Global developmental delay, Intellectual disability, Seizures