Early onset dystonia

Gene: GNAL

Comment from the Parkinson panel: Monoallelic mutations have been associated with adult-onset cranio-cervical dystonia - PMID: 23222958 (more than 2 families with adult onset of focal dystonia (plus plus neck), which often progresses to involve other regions), 23449625 (4 families with reduced penetrance, adult onset of focal dystonia), 23759320 (2 chinese families and sporadic adult onset generalized dystonia), 24151159 (3 sporadic cases with adult-onset dystonia involving the neck and or face), 24408567 (1 sporadic case adult-onset dystonia), 24535567 (2 families with craniocervical dystonia), 24729450 (1 sporadic cervical dystonia, DE NOVO), 25382112 (2 sporadic with dystonia) plus other similar publications. ONE BIALLELIC MUTATION described in 27222887 1 girl from cons parents with generalised dystonia and mild ID. Consider moving this gene to the dystonia panel

Created: 15 Dec 2016, 11:10 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
adult-onset cranio-cervical dystonia

Publications

• 23222958
• 23449625
• 23759320
• 24151159
• 24408567
• 24535567
• 24729450
• 25382112
• 27222887

Added watchlist tag.

Created: 8 Dec 2016, 3:12 p.m.

Is on the Complex Parkinson's Disease/Dystonia NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.

Created: 10 Jun 2016, 8:56 a.m.

Comment on list classification: Huw Morris (UCL) suggested that this gene be demoted to amber due to some uncertainty regarding the prevelance and the pathogenicity of variants - see PMID: 25111208 which is a comment on PMID: 24535567, and the author's reply PMID: 25111209. Since then (2014) multiple studies have been published - see PMIDs provided under publications below.

Created: 9 Jun 2016, 10:44 a.m.

Comment on list classification: Confirmed gene in curated GeneReviews classification.

Created: 27 May 2016, 8:56 a.m.