DDG2P
Gene: DOCK3

DOCK3 (dedicator of cytokinesis 3)
EnsemblGeneIds (GRCh38): ENSG00000088538
EnsemblGeneIds (GRCh37): ENSG00000088538
OMIM: 603123, Gene2Phenotype
DOCK3 is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for DOCK3-related neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia are moderate, biallelic_autosomal and loss of function (PMIDs: 28195318, 29130632, 30976111, 40151040). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03779.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
DOCK3-related neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia; OMIM:618292.0; MONDO:0032661

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

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

DOCK3-related neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia
MONDO:0032661
OMIM:618292.0

OMIM

603123

Clinvar variants

Variants in DOCK3

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: DOCK3 was added gene: DOCK3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DOCK3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOCK3 were set to 29130632; 30976111; 28195318; 40151040 Phenotypes for gene: DOCK3 were set to DOCK3-related neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia; MONDO:0032661; OMIM:618292.0

DDG2P Gene: DOCK3