Autosomal Recessive Hyper-IgE Syndrome(Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency)
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 GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities