Childhood onset dystonia, chorea or related movement disorder
Gene: VAC14

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

1 review

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

Green List (high evidence)

Suggested by Huw and Raquel
Created: 9 Jul 2019, 4:24 p.m. | Last Modified: 9 Jul 2019, 4:24 p.m.

Panel Version: 0.9

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

PanelApp
Expert Review Green
London North GLH

Phenotypes

Striatonigral degeneration, childhood-onset 617054

OMIM

604632

Clinvar variants

Variants in VAC14

Penetrance

None

Publications

Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to VAC14. Mode of inheritance for gene VAC14 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Striatonigral degeneration, childhood-onset 617054 for gene: VAC14 Publications for gene VAC14 were changed from to 17956977; 27292112; 19037259

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: VAC14 was added gene: VAC14 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: VAC14 was set to

Childhood onset dystonia, chorea or related movement disorder Gene: VAC14