GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Lists of Rare Genetic Disorders      

Autoimmune Lymphoproliferative Syndrome(ALPS)      Explore Disorder's Alias
An Autosomal dominant, Autosomal recessive mode(s) within the Immune disorders category
Reported Pathogenic variants
Candidate Gene Information
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