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DDG2P

Gene: VAC14

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for VAC14-related progressive neurological disorder and regression of developmental milestones are limited, biallelic_autosomal and undetermined (PMID:27292112). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01753.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease Progressive neurological disorder and regression of developmental milestones is limited. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID:27292112).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Progressive neurological disorder and regression of developmental milestones; VAC14-related progressive neurological disorder and regression of developmental milestones

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: possible. DDG2P mode of pathogenicity: all missense/in frame
Created: 19 Nov 2018, 11:31 a.m.
Created: 19 Nov 2018, 11:31 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • Progressive neurological disorder and regression of developmental milestones
OMIM
604632
Clinvar variants
Variants in VAC14
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 1

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: VAC14 was changed from Other to None

4 Oct 2023, Gel status: 1

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene VAC14 was changed from Other - please provide details in the comments to Other

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

19 Nov 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: VAC14 was added gene: VAC14 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: VAC14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VAC14 were set to 27292112 Phenotypes for gene: VAC14 were set to Progressive neurological disorder and regression of developmental milestones Mode of pathogenicity for gene: VAC14 was set to Other - please provide details in the comments