1. Panels
  2. Adult onset dystonia, chorea or related movement disorder
  3. GNAL
Genes in panel
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Adult onset dystonia, chorea or related movement disorder

Gene: GNAL

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

3 reviews

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Created: 23 Apr 2019, 1:13 p.m.

Panel version: 0.53

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 1:19 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 12:18 p.m.
Created: 23 Apr 2019, 12:18 p.m.

Panel version: 0.54

Emily Jones (North Bristol NHS Trust)

Green List (high evidence)

Numerous accounts of variants, generally with adult onset. PMID 23449625 suggests there may be incomplete penetrance.
Created: 23 Apr 2019, 12:14 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dystonia 25, 615073; adult-onset cranio-cervical dystonia

Publications

Created: 23 Apr 2019, 12:14 p.m.

Panel version: 0.49

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Dystonia 25, OMIM:615073
OMIM
139312
Clinvar variants
Variants in GNAL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Mar 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: GNAL were changed from adult-onset cranio-cervical dystonia; Dystonia 25, 615073 to Dystonia 25, OMIM:615073

27 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: gnal has been classified as Green List (High Evidence).

23 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to GNAL.

23 Apr 2019, Gel status: 2

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes adult-onset cranio-cervical dystonia; Dystonia 25, 615073 for gene: GNAL Publications for gene GNAL were changed from 23222958; 27093447; 27222887; 24729450; 26725140; 23759320; 27123488; 24151159; 23449625; 25847575; 26810727; 24408567; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 26365774; 26506956; 25382112; 24535567 to 23449625; 26810727; 23222958; 25847575; 26725140; 27123488; 24408567; 26365774; 25382112; 27093447; 24535567; 23759320; 27222887; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 24151159; 26506956; 24729450

23 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to GNAL.

23 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to GNAL.

3 Jan 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: GNAL was added gene: GNAL was added to Adult onset movement disorder. Sources: Expert Review Amber Mode of inheritance for gene: GNAL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GNAL were set to 23222958; 27093447; 27222887; 24729450; 26725140; 23759320; 27123488; 24151159; 23449625; 25847575; 26810727; 24408567; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 26365774; 26506956; 25382112; 24535567 Phenotypes for gene: GNAL were set to Dystonia 25, 615073; adult-onset cranio-cervical dystonia