Childhood onset dystonia, chorea or related movement disorder
Gene: GLRB
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 14 Mar 2022, 10:59 a.m. | Last Modified: 14 Mar 2022, 10:59 a.m.
Panel Version: 1.217
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 4:45 p.m. | Last Modified: 3 Mar 2022, 4:45 p.m.
Panel Version: 1.212
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least four variants reported in three unrelated cases.Created: 11 May 2021, 4:09 p.m. | Last Modified: 11 May 2021, 4:09 p.m.
Panel Version: 1.103
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 11 May 2021, 4:08 p.m. | Last Modified: 11 May 2021, 4:08 p.m.
Panel Version: 1.103
Well established gene disease association. Movement disorder with perinatal onset. GLRA is Green on this panel.Created: 5 Sep 2020, 8:23 a.m. | Last Modified: 5 Sep 2020, 8:23 a.m.
Panel Version: 1.49
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperekplexia 2, MIM# 614619
Onset in 1 st yr. Increased startle reflex and myoclonus, Removed from adult onset panel. Red green suggested by Huw and RaquelCreated: 9 Jul 2019, 4:25 p.m. | Last Modified: 9 Jul 2019, 4:25 p.m.
Panel Version: 0.9
Tag Q2_21_rating was removed from gene: GLRB.
Source Expert Review Green was added to GLRB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_rating tag was added to gene: GLRB.
Gene: glrb has been classified as Amber List (Moderate Evidence).
Publications for gene: GLRB were set to 21391991; 23238346; 11929858
Phenotypes for gene: GLRB were changed from Hyperekplexia 2, 614619 to Hyperekplexia 2 OMIM:614619; hyperekplexia 2 MONDO:0013828
Source PanelApp was added to GLRB. Mode of inheritance for gene GLRB was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Hyperekplexia 2, 614619 for gene: GLRB Publications for gene GLRB were changed from to 21391991; 23238346; 11929858
gene: GLRB was added gene: GLRB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GLRB was set to