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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 8 panels

1 review

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.

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
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

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