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Regression
Gene: VAC14

VAC14 (Vac14, PIKFYVE complex component)
EnsemblGeneIds (GRCh38): ENSG00000103043
EnsemblGeneIds (GRCh37): ENSG00000103043
OMIM: 604632, Gene2Phenotype
VAC14 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Striatonigral degeneration, childhood-onset, MIM#617054
Created: 29 Oct 2020, 3:56 a.m. | Last Modified: 29 Oct 2020, 3:56 a.m.

Panel Version: 0.199

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Striatonigral degeneration, childhood-onset, MIM#617054

Publications

Created: 29 Oct 2020, 3:56 a.m.
Last Modified: 29 Oct 2020, 3:56 a.m.
Panel version: 0.199

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Striatonigral degeneration, childhood-onset, MIM#617054

OMIM

Clinvar variants

Variants in VAC14

Penetrance

None

Publications

Panels with this gene

History Filter Activity

29 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vac14 has been classified as Green List (High Evidence).

29 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: VAC14 were changed from to Striatonigral degeneration, childhood-onset, MIM#617054

29 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: VAC14 were set to

29 Oct 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: VAC14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: VAC14 was added gene: VAC14 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: VAC14 was set to Unknown