Combined Immunodeficiency Due To DOCK8 Deficiency(Hyper-IgE recurrent infection syndrome, autosomal recessive) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Immune disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Immune disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | DOCK8/81704 | dedicator of cytokinesis 8 | 9p24.3 | Chr9, NC_000009.12 (211257..465255) |
253999 nt | 53 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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Clinical Symptoms & Disabilities