Genomics England

GTP binding protein 2

Panel	Mode of inheritance	Details
Filter panels6 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 5.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Jaberi-Elahi syndrome, 617988
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	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 6.9	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 4.195	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 7.51	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Jaberi-Elahi syndrome, 617988, Global developmental delay, Intellectual disability, Seizures