Parkinson Disease and Complex Parkinsonism
Gene: GNALMonoallelic 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: 14 Dec 2016, 5:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
adult-onset cranio-cervical dystonia
Publications
reported to cause dystonia, not complex parkinsonismCreated: 29 Jun 2016, 7:16 p.m.
Phenotypes
dystonia
Publications
Comment on list classification: Dystonia gene. Consider promoting to green on Dystonia panel.Created: 8 Dec 2016, 3:12 p.m.
Comment on list classification: 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. Huw Morris (UCL) suggested that this gene be demoted to amber on the dystonia gene panel 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: 10 Jun 2016, 11:10 a.m.
19th Dec 2016: panel revised according to expert review and further curation.
This gene has been classified as Red List (Low Evidence).
Phenotypes for GNAL were set to Dystonia 25, 615073;adult-onset cranio-cervical dystonia
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
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Red List (Low Evidence).
Phenotypes for GNAL were set to Dystonia 25, 615073
Phenotypes for GNAL were set to Dystonia 25, 615073
This gene has been classified as Amber List (Moderate Evidence).
GNAL was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Expert list
GNAL was created by ellenmcdonagh