Structural basal ganglia disorders
Gene: VAC14

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

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a possible G2P. At least 4 variants reported in two unrelated cases, together with relevant animal model and supportive in vitro data.
Created: 14 Mar 2017, 5:05 p.m.

Created: 14 Mar 2017, 5:05 p.m.

Panel version: 0.190

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 1 Mar 2017, 3:40 p.m.

Panel version: 0.14

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Striatonigral degeneration, childhood-onset 617054

OMIM

604632

Clinvar variants

Variants in VAC14

Penetrance

Complete

Publications

Panels with this gene