Genes in panel

Neurodegenerative disorders - adult onset

Gene: GNAL

Red List (low evidence)

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

5 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

Dystonia-25 is an autosomal dominant neurologic disorder characterized by adult onset of focal dystonia, usually involving the neck. iF neurodegenerative then green
Created: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Red List (low evidence)

Limb dystonia phenotype
Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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

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

Red List (low evidence)

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Created: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames 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, 5:35 p.m.
Review and rating from Anthony Dallosso (Bristol Genetics Laboratory), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 3:05 p.m.

Anthony Dallosso (Bristol Genetics Laboratory)

Green List (high evidence)

Evidence of incomplete penetrance, but multiple dystonia families reported, including childhood onset (23222958, 27222887)
Created: 23 Apr 2019, 2:42 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • adult-onset cranio-cervical dystonia
  • Dystonia 25, 615073
Tags
watchlist
OMIM
139312
Clinvar variants
Variants in GNAL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Sep 2019, Gel status: 1

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to GNAL. Rating Changed from Green List (high evidence) to Red List (low evidence)

2 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to GNAL.

23 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to GNAL.

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

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.

25 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Gene awaiting curator evaluati

18 Dec 2018, Gel status: 2

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: GNAL.

18 Dec 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes adult-onset cranio-cervical dystonia; Dystonia 25, 615073 for gene: GNAL

18 Dec 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: GNAL was added gene: GNAL was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber Mode of inheritance for gene: GNAL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNAL were set to 25847575; 24729450; 24535567; 24408567; 26365774; 26810727; 27093447; 27123488; 23222958; 26506956; 27222887; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 23449625; 23759320; 25382112; 24151159; 26725140 Phenotypes for gene: GNAL were set to Dystonia 25, 615073