Autoimmune Lymphoproliferative Syndrome(ALPS) Explore Disorder's Alias
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 | CASP8/841 | caspase 8 | 2q33.1 | Chr2, NC_000002.12 (201233463..201287711) |
54249 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
2 | FASLG/356 | Fas ligand | 1q24.3 | Chr1, NC_000001.11 (172659103..172666876) |
7774 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
3 | FAS/355 | Fas cell surface death receptor | 10q23.31 | Chr10, NC_000010.11 (88964050..89017059) |
53010 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
4 | PRKCD/5580 | protein kinase C delta | 3p21.1 | Chr3, NC_000003.12 (53161209..53192717) |
31509 nt | 22 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
5 | CTLA4/1493 | cytotoxic T-lymphocyte associated protein 4 | 2q33.2 | Chr2, NC_000002.12 (203867771..203873965) |
6195 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
6 | CASP10/843 | caspase 10 | 2q33.1 | Chr2, NC_000002.12 (201183141..201229406) |
46266 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
Variant Information | ||||||||
Disorder Cross-References: GARD GTR MalaCards NORD |
Patient care services
Clinical Symptoms & Disabilities
Prevalence
Under development |