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Newborns main panel

Gene: DOCK2

Green List (high evidence)

DOCK2 (dedicator of cytokinesis 2)
EnsemblGeneIds (GRCh38): ENSG00000134516
EnsemblGeneIds (GRCh37): ENSG00000134516
OMIM: 603122, Gene2Phenotype
DOCK2 is in 3 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
https://pubmed-ncbi-nlm-nih-gov.ezproxy3.lhl.uab.edu/34872585/
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Immunodeficiency 40
OMIM
603122
Clinvar variants
Variants in DOCK2
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Immunodeficiency 40 for gene: DOCK2

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Immunodeficiency 40 for gene: DOCK2

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Immunodeficiency 40 for gene: DOCK2

15 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to DOCK2. Added phenotypes Immunodeficiency 40 for gene: DOCK2 Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to DOCK2. Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Immunodeficiency 40 for gene: DOCK2

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: DOCK2 was added gene: DOCK2 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: DOCK2 was set to BIALLELIC, autosomal or pseudoautosomal