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  3. VAC14
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Early-onset Parkinson disease

Gene: VAC14

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 5 unrelated families reported.
Created: 19 Jul 2022, 8:08 a.m. | Last Modified: 19 Jul 2022, 8:08 a.m.
Panel Version: 0.139

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Striatonigral degeneration, childhood-onset, MIM# 617054

Created: 19 Jul 2022, 8:08 a.m.
Last Modified: 19 Jul 2022, 8:08 a.m.
Panel version: 0.139

SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

Green List (high evidence)

Sources: Literature
Created: 17 Jul 2022, 12:19 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Childhood onset Striatonigral degeneration; Dystonia; Parkinsonism; OMIM 617054

Publications

Created: 17 Jul 2022, 12:19 p.m.

Panel version: 0.134

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Striatonigral degeneration, childhood-onset, MIM# 617054
  • Dystonia
  • Parkinsonism
OMIM
604632
Clinvar variants
Variants in VAC14
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Jul 2022, 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).

19 Jul 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: VAC14 were changed from Childhood onset Striatonigral degeneration; Dystonia; Parkinsonism; OMIM 617054 to Striatonigral degeneration, childhood-onset, MIM# 617054; Dystonia; Parkinsonism

19 Jul 2022, 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).

17 Jul 2022, Gel status: 0

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

SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

gene: VAC14 was added gene: VAC14 was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: VAC14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VAC14 were set to PMID: 31392254; 28502045 Phenotypes for gene: VAC14 were set to Childhood onset Striatonigral degeneration; Dystonia; Parkinsonism; OMIM 617054 Review for gene: VAC14 was set to GREEN