MHC Class II Deficiency(Immunodeficiency by defective expression of MHC class II) 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 | RFXANK/8625 | regulatory factor X associated ankyrin containing protein | 19p13.11 | Chr19, NC_000019.10 (19192258..19201866) |
9609 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | RFX5/5993 | regulatory factor X5 | 1q21.3 | Chr1, NC_000001.11 (151340640..151347252, complement) |
6613 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | RFXAP/5994 | regulatory factor X associated protein | 13q13.3 | Chr13, NC_000013.11 (36819222..36829104) |
9883 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | CIITA/4261 | class II major histocompatibility complex transactivator | 16p13.13 | Chr16, NC_000016.10 (10866206..10943021) |
76816 nt | 26 | 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 | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |