Early onset dystonia
Gene: GNALComment 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 panelCreated: 15 Dec 2016, 11:10 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
adult-onset cranio-cervical dystonia
Publications
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.
Publications for GNAL were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/; 27222887; 27123488; 27093447; 26810727; 26725140; 26506956; 26365774; 25847575; 25382112;23222958; 23449625; 23759320; 24151159; 24408567; 24535567; 24729450; 25382112; 27222887
17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.
This gene has been classified as Amber List (Moderate Evidence).
Publications for GNAL were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/; 27222887; 27123488; 27093447; 26810727; 26725140; 26506956; 26365774; 25847575; 25382112
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Green List (High Evidence).
Publications for GNAL were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/
Mode of inheritance for GNAL was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
GNAL was added to Early onset dystoniapanel. Sources: Radboud University Medical Center, Nijmegen