DOCK8 Chromosome 9
Dedicator of cytokinesis 8
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What This Gene Does
This gene encodes a member of the DOCK180 family of guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with Rho GTPases and are components of intracellular signaling networks. Mutations in this gene result in the autosomal recessive form of the hyper-IgE syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jun 2010]
Gene Info
Gene Group
"Armadillo like helical domain containing|DOCK family Rho GEFs"
Locus Type
gene with protein product
Location
9p24.3
Ensembl
ENSG00000107099
Associated Conditions (19)
Combined immunodeficiency due to DOCK8 deficiency
Inborn genetic diseases
DOCK8-related disorder
Intellectual disability
Ovarian serous cystadenocarcinoma
Thymoma
Thyroid cancer
nonmedullary
1
Melanoma
Familial cancer of breast
Lung cancer
Hyper-IgE recurrent infection syndrome 3
autosomal recessive
Malignant tumor of esophagus
Acute myeloid leukemia
Severe combined immunodeficiency disease
Inherited Immunodeficiency Diseases
-
Key Variants
RS111306749
Conflicting classifications of pathogenicity
Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
Health Risk
RS111627162
Conflicting classifications of pathogenicity
Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
Health Risk
RS1156965453
Conflicting classifications of pathogenicity
Combined immunodeficiency due to DOCK8 deficiency, Inborn genetic diseases, Combined immunodeficiency due to DOCK8 deficiency
Health Risk
RS116920018
Conflicting classifications of pathogenicity
Combined immunodeficiency due to DOCK8 deficiency, DOCK8-related disorder, Intellectual disability
Health Risk
RS117109271
Conflicting classifications of pathogenicity
Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
Health Risk
RS1324502895
Conflicting classifications of pathogenicity
Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
Health Risk
RS138617736
Conflicting classifications of pathogenicity
Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
Health Risk
RS138810908
Conflicting classifications of pathogenicity
Combined immunodeficiency due to DOCK8 deficiency, Hyper-IgE recurrent infection syndrome 3, autosomal recessive
Health Risk
RS139297216
Conflicting classifications of pathogenicity
Combined immunodeficiency due to DOCK8 deficiency, DOCK8-related disorder, Combined immunodeficiency due to DOCK8 deficiency
Health Risk
RS139391329
Conflicting classifications of pathogenicity
Combined immunodeficiency due to DOCK8 deficiency, Intellectual disability, DOCK8-related disorder
Health Risk
RS1395205685
Conflicting classifications of pathogenicity
Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
Health Risk
RS140134223
Conflicting classifications of pathogenicity
Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
Health Risk
All Variants (181)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS369449324 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to DOCK8 deficiency, Inborn genetic diseases, DOCK8-related disorder |
| RS370123223 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to DOCK8 deficiency, DOCK8-related disorder, Combined immunodeficiency due to DOCK8 deficiency |
| RS371073556 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency |
| RS371596862 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS372829200 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency |
| RS372858877 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to DOCK8 deficiency, DOCK8-related disorder, Hyper-IgE recurrent infection syndrome 3 |
| RS373318465 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS373466608 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS373718659 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency |
| RS377297446 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to DOCK8 deficiency, DOCK8-related disorder, Combined immunodeficiency due to DOCK8 deficiency |
| RS531279290 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to DOCK8 deficiency, DOCK8-related disorder, Combined immunodeficiency due to DOCK8 deficiency |
| RS533492555 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to DOCK8 deficiency, Inborn genetic diseases, Combined immunodeficiency due to DOCK8 deficiency |
| RS550289472 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency |
| RS555906969 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency |
| RS565241553 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency |
| RS566738926 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency |
| RS568641163 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to DOCK8 deficiency, Inborn genetic diseases, Combined immunodeficiency due to DOCK8 deficiency |
| RS748721463 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency |
| RS748853895 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency |
| RS749575443 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to DOCK8 deficiency, Acute myeloid leukemia, Combined immunodeficiency due to DOCK8 deficiency |
| RS751748445 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency |
| RS753242273 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency |
| RS75352090 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Combined immunodeficiency due to DOCK8 deficiency, Inborn genetic diseases |
| RS754374567 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency |
| RS756871628 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency |
| RS757203330 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS757276569 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency |
| RS758437810 | Health Risk | Conflicting classifications of pathogenicity | Hyper-IgE recurrent infection syndrome 3, autosomal recessive, Severe combined immunodeficiency disease |
| RS758993681 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Hyper-IgE recurrent infection syndrome 3, autosomal recessive |
| RS759239515 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS759399965 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency |
| RS760907119 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency |
| RS762327114 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency |
| RS763565243 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency |
| RS764626266 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency |
| RS769111782 | Health Risk | Conflicting classifications of pathogenicity | Hyper-IgE recurrent infection syndrome 3, autosomal recessive, Inborn genetic diseases |
| RS769837178 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency |
| RS773500215 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Combined immunodeficiency due to DOCK8 deficiency, Inborn genetic diseases |
| RS773615177 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency |
| RS774596616 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency |
| RS776147775 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency |
| RS777072262 | Health Risk | Conflicting classifications of pathogenicity | DOCK8-related disorder, DOCK8-related disorder |
| RS778451048 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to DOCK8 deficiency, Inborn genetic diseases, Combined immunodeficiency due to DOCK8 deficiency |
| RS779199376 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Combined immunodeficiency due to DOCK8 deficiency, Inborn genetic diseases |
| RS781062154 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency |
| RS886063957 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency |
| RS1237936911 | Health Risk | Likely pathogenic | Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency |
| RS1486452597 | Health Risk | Likely pathogenic | Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency |
| RS1554655653 | Health Risk | Likely pathogenic | — |
| RS1554668061 | Health Risk | Likely pathogenic | Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency |