1. Panels
  2. Adult onset dystonia, chorea or related movement disorder
  3. VAC14
Genes in panel
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Adult onset dystonia, chorea or related movement disorder

Gene: VAC14

Red List (low evidence)
VAC14 (Vac14, PIKFYVE complex component)
EnsemblGeneIds (GRCh38): ENSG00000103043
EnsemblGeneIds (GRCh37): ENSG00000103043
OMIM: 604632, Gene2Phenotype
VAC14 is in 7 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: Striatonigral degeneration (can include dystonia): onset in early childhood
Created: 13 Aug 2019, 11:38 a.m. | Last Modified: 13 Aug 2019, 11:38 a.m.
Panel Version: 0.98
Suggested by Huw and Raquel - childhood onset
Created: 23 Apr 2019, 1:13 p.m.
Created: 23 Apr 2019, 1:13 p.m.

Panel version: 0.98

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • London North GLH
Phenotypes
  • Striatonigral degeneration, childhood-onset
OMIM
604632
Clinvar variants
Variants in VAC14
Penetrance
None
Publications
Panels with this gene

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 VAC14. 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 VAC14.

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to VAC14.

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: VAC14 was added gene: VAC14 was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: VAC14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VAC14 were set to 19037259; 17956977; 27292112 Phenotypes for gene: VAC14 were set to Striatonigral degeneration, childhood-onset