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  3. GNAL
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Early onset and familial Parkinson's Disease

Gene: GNAL

Amber List (moderate evidence)
GNAL (G protein subunit alpha L)
EnsemblGeneIds (GRCh38): ENSG00000141404
EnsemblGeneIds (GRCh37): ENSG00000141404
OMIM: 139312, Gene2Phenotype
GNAL is in 6 panels

1 review

Ellen McDonagh (Genomics England Curator)

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.
Created: 10 Jun 2016, 11:10 a.m.

Panel version: 0.26

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Dystonia 25, 615073
OMIM
139312
Clinvar variants
Variants in GNAL
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

10 Jun 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GNAL were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/; 27222887; 27123488; 27093447; 26810727; 26725140; 26506956; 26365774; 25847575; 25382112

10 Jun 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

10 Jun 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

GNAL was created by ellenmcdonagh

10 Jun 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

GNAL was added to Early onset and familial Parkinson's Diseasepanel. Sources: Expert list