Histiocytic Medullary Reticulosis(Omenn syndrome) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Cancer disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Cancer 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 | DCLRE1C/64421 | DNA cross-link repair 1C | 10p13 | Chr10, NC_000010.11 (14897359..14954432, complement) |
57074 nt | 20 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | RAG2/5897 | recombination activating 2 | 11p12 | Chr11, NC_000011.10 (36590996..36598236, complement) |
7241 nt | 2 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | RAG1/5896 | recombination activating 1 | 11p12 | Chr11, NC_000011.10 (36510353..36579762) |
69410 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | IL7R/3575 | interleukin 7 receptor | 5p13.2 | Chr5, NC_000005.10 (35856891..35879603) |
22713 nt | 8 | 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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