Adult onset dystonia, chorea or related movement disorder
Gene: GLB1
Comment on list classification: Rated Amber until further review/agreement with the Neurology Test Group. To be reviewed before panel sign offCreated: 29 Oct 2019, 10:51 a.m. | Last Modified: 29 Oct 2019, 10:51 a.m.
Panel Version: 0.128
Comment on publications: added publications to support gene-phenotypeCreated: 29 Oct 2019, 10:47 a.m. | Last Modified: 29 Oct 2019, 10:47 a.m.
Panel Version: 0.127
New Green gene suggested by Dr Julia Rankin, Consultant in Clinical Genetics (Royal Devon and Exeter NHS Foundation Trust). Adults with GM1 gangliosidosis can present with dystonia and parkinsonism.
Sources: Expert ReviewCreated: 29 Oct 2019, 10:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM1-gangliosidosis, type III, 230650
Gene: glb1 has been classified as Amber List (Moderate Evidence).
Publications for gene: GLB1 were set to
gene: GLB1 was added gene: GLB1 was added to Adult onset movement disorder. Sources: Expert Review Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLB1 were set to GM1-gangliosidosis, type III, 230650 Review for gene: GLB1 was set to GREEN