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 ADA gene ADA Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Severe Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency due to ADA deficiency, MIM# 102700;MONDO:0007064 Severe combined immunodeficiency;HP:0004430 3007108;3475710;8178821;8227344;2783588 False 3 100;0;0 1.30 False ENSG00000196839 ENSG00000196839 HGNC:186 AK2 gene AK2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Severe Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Reticular dysgenesis MIM# 267500;MONDO:0009973;Combined immunodeficiency;neutropaenia;leukopaenia;lymphopaenia;agranulocytosis;deafness Severe combined immunodeficiency;HP:0004430 19043417;19043416;33628209 False 3 100;0;0 1.30 False ENSG00000004455 ENSG00000004455 HGNC:362 CD247 gene CD247 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Severe Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 25, MIM# 610163;Absent T cells;Normal B cells;Normal NK cells Severe combined immunodeficiency;HP:0004430 16672702 False 3 100;0;0 1.30 True ENSG00000198821 ENSG00000198821 HGNC:1677 CD3D gene CD3D Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Severe Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 19 MIM# 615617 Severe combined immunodeficiency;HP:0004430 14602880;15546002;21926461;21883749 False 3 100;0;0 1.30 True ENSG00000167286 ENSG00000167286 HGNC:1673 CD3E gene CD3E Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Severe Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 18 MIM# 615615 Severe combined immunodeficiency;HP:0004430 15546002;28597365;8490660 False 3 100;0;0 1.30 True ENSG00000198851 ENSG00000198851 HGNC:1674 CORO1A gene CORO1A Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Severe Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 8, MIM# 615401 Severe combined immunodeficiency;HP:0004430 25073507;2352248;18836449 False 3 100;0;0 1.30 True ENSG00000102879 ENSG00000102879 HGNC:2252 DCLRE1C gene DCLRE1C Expert list;Expert Review Green Severe Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency due to DCLRE1C deficiency, MONDO:0011225 Severe combined immunodeficiency;HP:0004430 12055248, 34220820, 11336668, 19953608, 15731174, 16540517, 18034425, 12504013, 15699179 False 3 100;0;0 1.30 False ENSG00000152457 ENSG00000152457 HGNC:17642 FOXN1 gene FOXN1 Expert list;Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Severe Combined Immunodeficiency Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal T-cell immunodeficiency, congenital alopecia, and nail dystrophy, autosomal recessive MIM# 601705;T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominan, MIM#t 618806 Severe combined immunodeficiency;HP:0004430 31447097;18339010;10206641;32048120 False 3 100;0;0 1.30 True ENSG00000109101 ENSG00000109101 HGNC:12765 IL2RG gene IL2RG Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Severe Combined Immunodeficiency Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Combined immunodeficiency, X-linked, moderate MIM# 312863;Severe combined immunodeficiency, X-linked MIM# 300400;recurrent viral/fungal/bacterial infections;Low T/NK cells;Low Ig levels;lymphocytopaenia;hypogammaglobulinaemia;failure to thrive;diarrhoea;Pneumonia;Thymic hypoplasia Severe combined immunodeficiency;HP:0004430 20301584;8462096;8401490;7883965;9399950 False 3 100;0;0 1.30 True ENSG00000147168 ENSG00000147168 HGNC:6010 IL7R gene IL7R Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Severe Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal severe combined immunodeficiency 104 MIM#608971 Severe combined immunodeficiency;HP:0004430 9843216;19890784;26123418;11023514;7964471 False 3 100;0;0 1.30 True ENSG00000168685 ENSG00000168685 HGNC:6024 JAK3 gene JAK3 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Severe Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal SCID, autosomal recessive, T-negative/B-positive type MIM# 600802 Severe combined immunodeficiency;HP:0004430 14615376;11668610 False 3 100;0;0 1.30 True ENSG00000105639 ENSG00000105639 HGNC:6193 LAT gene LAT Expert list;Expert Review Green Severe Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 52, MIM# 617514" Severe combined immunodeficiency;HP:0004430 27522155;27242165;10204488 False 3 100;0;0 1.30 True ENSG00000213658 ENSG00000213658 HGNC:18874 LIG1 gene LIG1 Expert Review Green;Literature Severe Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 96, MIM# 619774 Severe combined immunodeficiency;HP:0004430 PMID: 33025376;PMID: 36341401 False 3 100;0;0 1.30 False ENSG00000105486 ENSG00000105486 HGNC:6598 LIG4 gene LIG4 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Severe Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal LIG4 syndrome MIM# 606593;T-/B-lymphocytopaenia;Normal NK, radiation sensitivity;Microcephaly;absent/low B and T cells;low Ig;raised IgM;failure to thrive;bacterial/viral/fungal infections;hypogammaglobulinaemia;neurodevelopmental delay;microcephaly;pancytopaenia Severe combined immunodeficiency;HP:0004430 27717373;10911993 False 3 100;0;0 1.30 False ENSG00000174405 ENSG00000174405 HGNC:6601 NHEJ1 gene NHEJ1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Severe Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291;MONDO:0012650 Severe combined immunodeficiency;HP:0004430 16439204;16439205 False 3 100;0;0 1.30 False ENSG00000187736 ENSG00000187736 HGNC:25737 NUDCD3 gene NUDCD3 Expert Review Green;Literature Severe Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency;omenn syndrome Severe combined immunodeficiency;HP:0004430 PMID: 38787962 False 3 100;0;0 1.30 False ENSG00000015676 ENSG00000015676 HGNC:22208 PAX1 gene PAX1 Expert Review Green;Literature Severe Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Syndromic SCID;dysmorphism;ear abnormalities;Otofaciocervical syndrome 2, MIM# 615560" Severe combined immunodeficiency;HP:0004430 32111619 False 3 100;0;0 1.30 True ENSG00000125813 ENSG00000125813 HGNC:8615 PRKDC gene PRKDC Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Severe Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 26, with or without neurologic abnormalities MIM# 615966;Absent T and B cells;normal NK cells;SCID;recurrent respiratory infections;microcephaly;seizures;developmental delay Severe combined immunodeficiency;HP:0004430 19075392;23722905 False 3 100;0;0 1.30 False ENSG00000253729 ENSG00000253729 HGNC:9413 PTPRC gene PTPRC Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Severe Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971;Hepatitis C virus, susceptibility to MIM# 609532 Severe combined immunodeficiency;HP:0004430 11145714;12073144;22689986;10700239 False 3 100;0;0 1.30 True ENSG00000081237 ENSG00000081237 HGNC:9666 RAC2 gene RAC2 Expert list;Expert Review Green Severe Combined Immunodeficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted SCID;recurrent bacterial and viral infections;lymphoproliferation;neutropaenia;reticular dysgenesis;deafness Severe combined immunodeficiency;HP:0004430 32198141;31919089;31382036;31071452;30723080;30654050 False 3 100;0;0 1.30 False Other ENSG00000128340 ENSG00000128340 HGNC:9802 RAG1 gene RAG1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Severe Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Recombinase activating gene 1 deficiency MONDO:0000572 Severe combined immunodeficiency;HP:0004430 26689875;26186701 False 3 100;0;0 1.30 False ENSG00000166349 ENSG00000166349 HGNC:9831 RAG2 gene RAG2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Severe Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Recombinase activating gene 2 deficiency MONDO:0000573 Severe combined immunodeficiency;HP:0004430 26996199 False 3 100;0;0 1.30 False ENSG00000175097 ENSG00000175097 HGNC:9832 TP63 gene TP63 Expert Review Green;Literature Severe Combined Immunodeficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001 Severe combined immunodeficiency;HP:0004430 doi: 10.3389/fimmu.2024.1438383 False 3 100;0;0 1.30 True ENSG00000073282 ENSG00000073282 HGNC:15979 DMRT2 gene DMRT2 Expert Review Amber;Literature Severe Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523 Severe combined immunodeficiency;HP:0004430 PMID: 41014130;29681102;16387292 False 2 0;100;0 1.30 True ENSG00000173253 ENSG00000173253 HGNC:2935 LCP2 gene LCP2 Expert Review Amber;Literature Severe Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 81, MIM# 619374;Severe combined immunodeficiency Severe combined immunodeficiency;HP:0004430 33231617 False 2 0;100;0 1.30 False ENSG00000043462 ENSG00000043462 HGNC:6529 POLD3 gene POLD3 Expert Review Amber;Literature Severe Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 122, MIM# 620869 Severe combined immunodeficiency;HP:0004430 37030525;36395985;27524497;38099988 False 2 0;100;0 1.30 True ENSG00000077514 ENSG00000077514 HGNC:20932 ITPKB gene ITPKB Expert Review Red;Literature Severe Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency, absent T cells, present B cells and NK cells Severe combined immunodeficiency;HP:0004430 31987846 False 1 0;0;100 1.30 True ENSG00000143772 ENSG00000143772 HGNC:6179 PSMB10 gene PSMB10 Expert Review Red;Literature Severe Combined Immunodeficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Severe combined immunodeficiency, MONDO:0015974, PSMB10-related Severe combined immunodeficiency;HP:0004430 38503300 False 1 50;0;50 1.30 False ENSG00000205220 ENSG00000205220 HGNC:9538 ISCA-37433-Loss region Expert list;Expert Review Green;Expert Review Green;Expert list Severe Combined Immunodeficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DiGeorge syndrome MIM#188400 Severe combined immunodeficiency;HP:0004430 False 3 100;0;0 1.30 False 22 18924718 20299686 3 80 cnv_loss DiGeorge syndrome ISCA-37446-Loss region Expert list;Expert Review Green;Expert Review Green;Expert list Severe Combined Immunodeficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Chromosome 22q11.2 deletion syndrome, distal MIM#611867;intellectual disability;autism;multiple congenital anomalies Severe combined immunodeficiency;HP:0004430 18179902;23765049;21671380 False 3 100;0;0 1.30 False 22 18924718 21111384 3 80 cnv_loss Chromosome 22q11.2 deletion syndrome, distal