Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ADA2 gene ADA2 Expert Review Green;Literature Autoimmune Lymphoproliferative Syndrome Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome MIM#615688" 39060684;29271561;30692987;34721429 False 3 100;0;0 1.12 True ENSG00000093072 ENSG00000093072 HGNC:1839 CASP8 gene CASP8 Expert Review Green;Literature Autoimmune Lymphoproliferative Syndrome Immunological disorders BIALLELIC, autosomal or pseudoautosomal Autoimmune lymphoproliferative syndrome, type IIB MIM#607271 12353035;25814141;12654726;17213198;16148088;41026346 False 3 50;50;0 1.12 True ENSG00000064012 ENSG00000064012 HGNC:1509 CTLA4 gene CTLA4 Expert Review Green;Literature Autoimmune Lymphoproliferative Syndrome Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation MIM#616100;autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency MONDO:0014493 39060684;38302222 False 3 100;0;0 1.12 True ENSG00000163599 ENSG00000163599 HGNC:2505 FADD gene FADD Expert Review Green;Literature Autoimmune Lymphoproliferative Syndrome Immunological disorders BIALLELIC, autosomal or pseudoautosomal FADD-related immunodeficiency MONDO:0013408 21109225;25794656;32350755;32971525 False 3 100;0;0 1.12 True ENSG00000168040 ENSG00000168040 HGNC:3573 FAS gene FAS Expert Review Green;Literature Autoimmune Lymphoproliferative Syndrome Immunological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal "Autoimmune lymphoproliferative syndrome, type IA MIM#601859" False 3 100;0;0 1.12 True ENSG00000026103 ENSG00000026103 HGNC:11920 FASLG gene FASLG Expert Review Green;Literature Autoimmune Lymphoproliferative Syndrome Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Autoimmune lymphoproliferative syndrome, type IB MIM#601859" 16627752;17605793;19794494;8787672;22857792;33356695;26334989;25451160 False 3 100;0;0 1.12 False ENSG00000117560 ENSG00000117560 HGNC:11936 IKZF1 gene IKZF1 Expert Review Green;Literature Autoimmune Lymphoproliferative Syndrome Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency, common variable, 13 MIM# 616873;recurrent bacterial respiratory infections;Thrombocytopaenia;immunodeficiency;Hypogammaglobulinaemia;decrease B-cells;decrease B-cell differentiation;decrease memory B/T cells;Low Ig;pneumocystis early CID onset;Immune dysregulation PMID: 32654692 False 3 100;0;0 1.12 True ENSG00000185811 ENSG00000185811 HGNC:13176 ITK gene ITK Expert Review Green;Literature Autoimmune Lymphoproliferative Syndrome Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Lymphoproliferative syndrome 1 MIM#613011" 19425169;22289921;25061172;26056787;9311799;10213685 False 3 100;0;0 1.12 True ENSG00000113263 ENSG00000113263 HGNC:6171 KRAS gene KRAS Expert Review Green;Literature Autoimmune Lymphoproliferative Syndrome Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "RAS-associated autoimmune leukoproliferative disorder MIM#614470" 27577878;39060684;21079152 False 3 100;0;0 1.12 True ENSG00000133703 ENSG00000133703 HGNC:6407 LRBA gene LRBA Expert Review Green;Literature Autoimmune Lymphoproliferative Syndrome Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency, common variable, 8, with autoimmunity MIM#614700" 38302222;25931386 False 3 100;0;0 1.12 True ENSG00000198589 ENSG00000198589 HGNC:1742 MAGT1 gene MAGT1 Expert Review Green;Literature Autoimmune Lymphoproliferative Syndrome Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia MIM#300853" 39060684;25956530;34447369 False 3 100;0;0 1.12 True ENSG00000102158 ENSG00000102158 HGNC:28880 NFKB1 gene NFKB1 Expert Review Green;Literature Autoimmune Lymphoproliferative Syndrome Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency, common variable, 12 MIM# 616576 PMID: 39644063 False 3 0;0;0 1.12 True ENSG00000109320 ENSG00000109320 HGNC:7794 NFKB2 gene NFKB2 Expert Review Green;Literature Autoimmune Lymphoproliferative Syndrome Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency, common variable, 10 MIM# 615577 PMID: 39644063 False 3 100;0;0 1.12 True ENSG00000077150 ENSG00000077150 HGNC:7795 NRAS gene NRAS Expert Review Green;Literature Autoimmune Lymphoproliferative Syndrome Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted autoimmune lymphoproliferative syndrome type 4 MONDO:0013767 39060684;17517660;33011939 False 3 100;0;0 1.12 True ENSG00000213281 ENSG00000213281 HGNC:7989 PIK3CD gene PIK3CD Expert Review Green;Literature Autoimmune Lymphoproliferative Syndrome Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunodeficiency 14B, autosomal recessive, MIM# 619281;Immunodeficiency 14A, autosomal dominant, MIM# 615513 PMID: 39644063 False 3 100;0;0 1.12 True ENSG00000171608 ENSG00000171608 HGNC:8977 PIK3R1 gene PIK3R1 Expert Review Green;Literature Autoimmune Lymphoproliferative Syndrome Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency 36, MIM# 616005 PMID: 39644063 False 3 100;0;0 1.12 True ENSG00000145675 ENSG00000145675 HGNC:8979 PRKCD gene PRKCD Expert Review Green;Literature Autoimmune Lymphoproliferative Syndrome Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Autoimmune lymphoproliferative syndrome, type III MIM#615559" 37794137 False 3 100;0;0 1.12 True ENSG00000163932 ENSG00000163932 HGNC:9399 STAT3 gene STAT3 Expert Review Green;Literature Autoimmune Lymphoproliferative Syndrome Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Autoimmune disease, multisystem, infantile-onset, 1 MIM#615952;STAT3-related early-onset multisystem autoimmune disease MONDO:0014414" 36228738 False 3 100;0;0 1.12 True ENSG00000168610 ENSG00000168610 HGNC:11364 CASP10 gene CASP10 Expert Review Amber;Literature Autoimmune Lymphoproliferative Syndrome Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoimmune lymphoproliferative syndrome, type II MIM#603909 34329798;34384744;20301287 False 2 50;50;0 1.12 True ENSG00000003400 ENSG00000003400 HGNC:1500 RASGRP1 gene RASGRP1 Expert Review Amber;Literature Autoimmune Lymphoproliferative Syndrome Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 64 MIM#618534" 29155103;39752212 False 2 0;100;0 1.12 True ENSG00000172575 ENSG00000172575 HGNC:9878