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DDG2P

Gene: DOCK4

Red List (low evidence)
DOCK4 (dedicator of cytokinesis 4)
EnsemblGeneIds (GRCh38): ENSG00000128512
EnsemblGeneIds (GRCh37): ENSG00000128512
OMIM: 607679, Gene2Phenotype
DOCK4 is in 2 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for DOCK4-related neurodevelopmental disorder are limited, monoallelic_autosomal and loss of function (PMID:38526744). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03781.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17

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

Phenotypes
DOCK4-related neurodevelopmental disorder

Publications

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • DOCK4-related neurodevelopmental disorder
OMIM
607679
Clinvar variants
Variants in DOCK4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: DOCK4 was added gene: DOCK4 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: DOCK4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DOCK4 were set to 38526744 Phenotypes for gene: DOCK4 were set to DOCK4-related neurodevelopmental disorder