DDG2P
Gene: DOCK2

DOCK2 (dedicator of cytokinesis 2)
EnsemblGeneIds (GRCh38): ENSG00000134516
EnsemblGeneIds (GRCh37): ENSG00000134516
OMIM: 603122, Gene2Phenotype
DOCK2 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 DOCK2-related severe combined immunodeficiency are strong, biallelic_autosomal and loss of function (PMIDs: 26083206, 30838481, 33928462, 34872585, 36541113). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03778.
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
OMIM:616433.0; DOCK2-related severe combined immunodeficiency; MONDO:0014637

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

OMIM:616433.0
MONDO:0014637
DOCK2-related severe combined immunodeficiency

OMIM

603122

Clinvar variants

Variants in DOCK2

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: DOCK2 was added gene: DOCK2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DOCK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOCK2 were set to 34872585; 26083206; 36541113; 30838481; 33928462 Phenotypes for gene: DOCK2 were set to OMIM:616433.0; MONDO:0014637; DOCK2-related severe combined immunodeficiency

DDG2P Gene: DOCK2