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  2. Adult onset dystonia, chorea or related movement disorder
  3. SCN1A
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Adult onset dystonia, chorea or related movement disorder

Gene: SCN1A

Red List (low evidence)
SCN1A (sodium voltage-gated channel alpha subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000144285
EnsemblGeneIds (GRCh37): ENSG00000144285
OMIM: 182389, Gene2Phenotype
SCN1A is in 13 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Created: 13 Aug 2019, 11:57 a.m. | Last Modified: 13 Aug 2019, 11:57 a.m.
Panel Version: 0.100
Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Created: 13 Aug 2019, 11:48 a.m. | Last Modified: 13 Aug 2019, 11:48 a.m.
Panel Version: 0.99
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.
Created: 23 Apr 2019, 1:19 p.m.

Panel version: 0.100

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

Red List (low evidence)

Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Dravet's syndrome (onset in early childhood) FHM - ? Movement disorder
Created: 13 Aug 2019, 11:38 a.m. | Last Modified: 13 Aug 2019, 11:38 a.m.
Panel Version: 0.98
Created: 23 Apr 2019, 1:13 p.m.

Panel version: 0.98

History Filter Activity

13 Aug 2019, Gel status: 1

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to SCN1A. Rating Changed from Green List (high evidence) to Red List (low evidence)

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SCN1A.

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to SCN1A.

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: SCN1A was added gene: SCN1A was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN1A were set to 16054936; 19332696 Phenotypes for gene: SCN1A were set to Dravet syndrome; several epilepsy, convulsion and migraine disorders.; familial hemiplegic migraine 3