Childhood onset dystonia, chorea or related movement disorder

Gene: GLRB

Green List (high evidence)

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

Green List (high evidence)

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

Red List (low evidence)

Onset in 1 st yr. Increased startle reflex and myoclonus, Removed from adult onset panel. Red green suggested by Huw and Raquel

Created: 9 Jul 2019, 4:25 p.m. | Last Modified: 9 Jul 2019, 4:25 p.m.

Panel Version: 0.9