Disorders of immune dysregulation
Gene: DOCK11EnsemblGeneIds (GRCh38): ENSG00000147251
EnsemblGeneIds (GRCh37): ENSG00000147251
OMIM: 300681, Gene2Phenotype
DOCK11 is in 3 panels
1 review
Lucy Spencer (Victorian Clinical Genetics Services)
8 male patients from 7 unrelated families all with hemizygous DOCK11 missense variants. 6 mothers were tested and found to carry the same missense. Early onset autoimmuniy with cytopenia, systemic lupus erythematosus, and skin and digestive manifestations. Patients platelets had abnormal morphology and spreading as well as impaired CDC42 activity. In vitro activated T cells and B lymphoblastoid cell lines (B-LCL) of patients exhibited aberrant protrusions and abnormal migration speed in confined channels concomitant with altered actin polymerization during migration. A DOCK11 knock-down recapitulated these abnormal cellular phenotypes in monocytes-derived dendritic cells (MDDC) and primary activated T cells from healthy controls.
6 of the variants are either absent or have only 1 het in gnomad v2, but one of them has 2 hemis and 1 het. The patient with this variant R1885C does seem to be more mild.
Sources: LiteratureCreated: 6 Apr 2023, 2:34 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
autoimmune disease MONDO:0007179, DOCK11-related
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Phenotypes
-
- Autoimmune disease with immune dysregulation, X-linked (ADMIDX), MIM#301109
- OMIM
- 300681
- Clinvar variants
- Variants in DOCK11
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: DOCK11 were changed from autoimmune disease MONDO:0007179, DOCK11-related to Autoimmune disease with immune dysregulation, X-linked (ADMIDX), MIM#301109
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: dock11 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: dock11 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Lucy Spencer (Victorian Clinical Genetics Services)gene: DOCK11 was added gene: DOCK11 was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: DOCK11 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: DOCK11 were set to 36952639 Phenotypes for gene: DOCK11 were set to autoimmune disease MONDO:0007179, DOCK11-related Review for gene: DOCK11 was set to GREEN