Hyper-IgE Syndrome(Hyperimmunoglobulin E syndrome)
An Autosomal dominant, Autosomal recessive mode(s) within the Immune disorders category
Candidate Gene Information
An Autosomal dominant, 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 | STAT3/6774 | signal transducer and activator of transcription 3 | 17q21.2 | Chr17, NC_000017.11 (42313324..42388442, complement) |
75119 nt | 24 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | PGM3/5238 | phosphoglucomutase 3 | 6q14.1 | Chr6, NC_000006.12 (83148705..83193900, complement) |
45196 nt | 18 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | 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 |
| 4 | STAT6/6778 | signal transducer and activator of transcription 6 | 12q13.3 | Chr12, NC_000012.12 (57095408..57111362, complement) |
15955 nt | 23 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GTR MalaCards NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities