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DDG2P

Gene: VPS4A

Green List (high evidence)
VPS4A (vacuolar protein sorting 4 homolog A)
EnsemblGeneIds (GRCh38): ENSG00000132612
EnsemblGeneIds (GRCh37): ENSG00000132612
OMIM: 609982, Gene2Phenotype
VPS4A is in 7 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for VPS4A-related CIMDAG Syndrome (monoallelic) are definitive, monoallelic_autosomal and dominant negative (PMIDs: 33186543, 33186545). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03076. The DDG2P confidence category, allelic requirement and molecular mechanism for VPS4A-related CIMDAG Syndrome (biallelic) are limited, biallelic_autosomal and undetermined (PMID:33186543). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03077.
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 CIMDAG Syndrome, monoallelic is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 33186545;33186543). The DDG2P confidence category for the disease CIMDAG Syndrome, biallelic is limited. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID:33186543).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
MONDO:0035819; CIMDAG Syndrome, biallelic; OMIM:619273.0; VPS4A-related CIMDAG Syndrome (monoallelic); CIMDAG Syndrome, monoallelic; VPS4A-related CIMDAG Syndrome (biallelic)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CIMDAG Syndrome, biallelic
  • CIMDAG Syndrome, monoallelic
OMIM
609982
Clinvar variants
Variants in VPS4A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: VPS4A was changed from Other to None

4 Oct 2023, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: VPS4A was added gene: VPS4A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: VPS4A were set to 33186543; 33186545 Phenotypes for gene: VPS4A were set to CIMDAG Syndrome, biallelic; CIMDAG Syndrome, monoallelic Mode of pathogenicity for gene: VPS4A was set to Other