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  3. VAC14
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Early onset dystonia

Gene: VAC14

Green List (high evidence)
VAC14 (Vac14, PIKFYVE complex component)
EnsemblGeneIds (GRCh38): ENSG00000103043
EnsemblGeneIds (GRCh37): ENSG00000103043
OMIM: 604632, Gene2Phenotype
VAC14 is in 7 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Inclusion of this as a green gene on this panel is appropriate, based on the review in the Structural basal ganglia disorders panel and the views of clinical expert
Created: 21 Mar 2017, 1:48 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Striatonigral degeneration, childhood-onset 617054

Created: 21 Mar 2017, 1:48 p.m.

Panel version: 1.20

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Striatonigral degeneration, childhood-onset 617054
OMIM
604632
Clinvar variants
Variants in VAC14
Penetrance
Complete
Panels with this gene

History Filter Activity

21 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

21 Mar 2017, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

VAC14 was added to Early onset dystoniapanel. Sources: Expert Review

21 Mar 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

VAC14 was created by sleigh