Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Childhood onset dystonia, chorea or related movement disorder v0.227 | GTPBP2 | Louise Daugherty Phenotypes for gene: GTPBP2 were changed from Jaberi-Elahi syndrome to Jaberi-Elahi syndrome, 617988 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.59 | GTPBP2 | Ellen McDonagh Phenotypes for gene: GTPBP2 were changed from to Jaberi-Elahi syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.58 | GTPBP2 | Ellen McDonagh Mode of inheritance for gene: GTPBP2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.0 | GTPBP2 |
Ellen McDonagh gene: GTPBP2 was added gene: GTPBP2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: GTPBP2 was set to |