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 CD28 gene CD28 Expert list;Expert Review Amber Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#620901 Combined immunodeficiency;HP:0005387 34214472 False 2 0;100;0 1.114 True ENSG00000178562 ENSG00000178562 HGNC:1653 CD8A gene CD8A Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal CD8 deficiency, familial, MIM# 608957 Combined immunodeficiency;HP:0005387 11435463;17658607;26563160 False 2 0;100;0 1.114 True ENSG00000153563 ENSG00000153563 HGNC:1706 COPG1 gene COPG1 Expert Review Amber;Literature Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 128, MIM# 620983 Combined immunodeficiency;HP:0005387 PMID: 33529166 False 2 0;50;50 1.114 True ENSG00000181789 ENSG00000181789 HGNC:2236 ERBIN gene ERBIN Expert list;Expert Review Amber Combined Immunodeficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Combined immunodeficiency, MONDO:0015131, ERBIN-related;Recurrent respiratory infections;Susceptibility to S.aureus;Eczema;Hyperextensible joints;Scoliosis;Arterial dilatation in some Combined immunodeficiency;HP:0005387 28126831 False 2 0;100;0 1.114 True ENSG00000112851 ENSG00000112851 HGNC:15842 FLT3LG gene FLT3LG Expert list;Expert Review Amber Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal ?Immunodeficiency 125 MIM#620926 Combined immunodeficiency;HP:0005387 10828034;38701783 False 2 0;100;0 1.114 True ENSG00000090554 ENSG00000090554 HGNC:3766 FOXI3 gene FOXI3 Expert list;Expert Review Amber Combined Immunodeficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted thymic dysplasia MONDO:0004195 Combined immunodeficiency;HP:0005387 35987349;31600545 False 2 0;100;0 1.114 True ENSG00000214336 ENSG00000214336 HGNC:35123 GUK1 gene GUK1 Expert Review Amber;Literature Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 21, MIM# 621071 Combined immunodeficiency;HP:0005387 39230499 False 2 0;100;0 1.114 True ENSG00000143774 ENSG00000143774 HGNC:4693 ICOSLG gene ICOSLG Expert list;Expert Review Amber Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 119, MIM# 620825;Combined immunodeficiency;recurrent bacterial and viral infections;neutropaenia Combined immunodeficiency;HP:0005387 31532372;30498080 False 2 0;100;0 1.114 True ENSG00000160223 ENSG00000160223 HGNC:17087 IL6R gene IL6R Expert list;Expert Review Amber Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Recurrent pyogenic infections, cold abscesses;High circulating IL-6 levels;High IgE;IgE recurrent infection syndrome, MIM#618944 Combined immunodeficiency;HP:0005387 31235509 False 2 0;100;0 1.114 True ENSG00000160712 ENSG00000160712 HGNC:6019 KMT2A gene KMT2A Expert list;Expert Review Amber Combined Immunodeficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wiedemann-Steiner syndrome MIM#605130 Combined immunodeficiency;HP:0005387 32048120;28623346;27320412 False 2 0;100;0 1.114 True ENSG00000118058 ENSG00000118058 HGNC:7132 LCP1 gene LCP1 Expert Review Amber;Literature Combined Immunodeficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bone marrow failure syndrome, MONDO:0000159, LCP1-related Combined immunodeficiency;HP:0005387 PMID: 38710235 False 2 0;100;0 1.114 True Other ENSG00000136167 ENSG00000136167 HGNC:6528 MAN2B2 gene MAN2B2 Expert Review Amber;Literature Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related;Combined Immune deficiency Combined immunodeficiency;HP:0005387 38622837;35637269;31775018 False 2 0;33;67 1.114 True ENSG00000013288 ENSG00000013288 HGNC:29623 MCM10 gene MCM10 Expert list;Expert Review Amber Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 80 with or without congenital cardiomyopathy MONDO:0030266 Combined immunodeficiency;HP:0005387 False 2 0;100;0 1.114 True ENSG00000065328 ENSG00000065328 HGNC:18043 MCM4 gene MCM4 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 54 MIM# 609981;Decreased NK cell number and function;Viral infections (EBV, HSV, VZV);Short stature;B cell lymphoma;Adrenal failure;Failure to thrive;Microcephaly;Increased chromosomal breakage;Hyperpigmentation;Lymphadenopathy Combined immunodeficiency;HP:0005387 22354167;22354170;22499342 False 2 0;100;0 1.114 True ENSG00000104738 ENSG00000104738 HGNC:6947 NFATC1 gene NFATC1 Expert Review Amber;Literature Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Inborn error of immunity, MONDO:0003778, NFATC1-related;Combined Immune deficiency Combined immunodeficiency;HP:0005387 PMID: 37249233 False 2 0;100;0 1.114 True ENSG00000131196 ENSG00000131196 HGNC:7775 NSMCE3 gene NSMCE3 Expert list;Expert Review Amber Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Lung disease, immunodeficiency, and chromosome breakage syndrome, MIM#617241 Combined immunodeficiency;HP:0005387 27427983 False 2 0;100;0 1.114 True ENSG00000185115 ENSG00000185115 HGNC:7677 PI4KA gene PI4KA Expert Review Amber;Literature Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Gastrointestinal defects and immunodeficiency syndrome 2, MIM# 619708 Combined immunodeficiency;HP:0005387 34415310 False 2 0;100;0 1.114 True ENSG00000241973 ENSG00000241973 HGNC:8983 PMS2 gene PMS2 Expert list;Expert Review Amber Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Mismatch repair cancer syndrome, MIM# 276300 Combined immunodeficiency;HP:0005387 False 2 0;100;0 1.114 True ENSG00000122512 ENSG00000122512 HGNC:9122 POLD2 gene POLD2 Expert list;Expert Review Amber Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Non-severe combined immunodeficiency due to polymerase delta deficiency MONDO:0800145;Low CD4 T cells;Low B cells, normal maturation;recurrent respiratory tract infections, skin infections, warts and molluscum;short stature;intellectual disability Combined immunodeficiency;HP:0005387 31449058;36528861 False 2 0;50;50 1.114 True ENSG00000106628 ENSG00000106628 HGNC:9176 POLD3 gene POLD3 Expert list;Expert Review Amber Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 122, MIM# 620869 Combined immunodeficiency;HP:0005387 38099988;37030525 False 2 0;100;0 1.114 True ENSG00000077514 ENSG00000077514 HGNC:20932 REL gene REL Expert list;Expert Review Amber Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 92, MIM# 619652;Combined immunodeficiency;T cells: normal, decreased memory CD4, poor proliferation;B cells: low, mostly naive, few switched memory B cells, impaired proliferation;Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms;Defective innate immunity Combined immunodeficiency;HP:0005387 31103457;34623332 False 2 50;50;0 1.114 True ENSG00000162924 ENSG00000162924 HGNC:9954 RHOH gene RHOH Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal {?Epidermodysplasia verruciformis, susceptibility to, 4}, MIM# 618307 Combined immunodeficiency;HP:0005387 22850876;27574848;38775840 False 2 0;50;50 1.114 True ENSG00000168421 ENSG00000168421 HGNC:686 RNF31 gene RNF31 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 115 with autoinflammation, MIM# 620632 Combined immunodeficiency;HP:0005387 26008899;30936877 False 2 0;100;0 1.114 True ENSG00000092098 ENSG00000092098 HGNC:16031 SLC19A1 gene SLC19A1 Expert Review Amber;Literature Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiency, SLC19A1-related MONDO:0015131 Combined immunodeficiency;HP:0005387 36517554,36745868 False 2 0;100;0 1.114 True ENSG00000173638 ENSG00000173638 HGNC:10937 TAPBP gene TAPBP Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Bare lymphocyte syndrome, type I, MIM# 604571;MHC class I deficiency 3, MIM# 620814 Combined immunodeficiency;HP:0005387 38866210;12149238 False 2 0;50;50 1.114 True ENSG00000231925 ENSG00000231925 HGNC:11566 TERC gene TERC Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dyskeratosis congenita, autosomal dominant 1, MIM# 127550 Combined immunodeficiency;HP:0005387 False 2 0;100;0 1.114 True ENSG00000270141 ENSG00000270141 HGNC:11727 TERT gene TERT Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Dyskeratosis congenita, autosomal dominant 2}, MIM# 613989;{Dyskeratosis congenita, autosomal recessive 4}, MIM# 613989 Combined immunodeficiency;HP:0005387 False 2 0;100;0 1.114 True ENSG00000164362 ENSG00000164362 HGNC:11730 TFRC gene TFRC Expert list;Expert Review Amber Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 46, MIM# 616740;T cells: normal number, poor proliferation;B cells: normal number, low memory B cells;recurrent infections, neutorpaenia;thrombocytopaenia" Combined immunodeficiency;HP:0005387 26642240 False 2 0;100;0 1.114 True ENSG00000072274 ENSG00000072274 HGNC:11763 TINF2 gene TINF2 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dyskeratosis congenita, autosomal dominant 3, MIM# 613990;Revesz syndrome, MIM# 268130 Combined immunodeficiency;HP:0005387 False 2 0;100;0 1.114 True ENSG00000092330 ENSG00000092330 HGNC:11824 TRAC gene TRAC Expert list;Expert Review Amber Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 7, TCR-alpha/beta deficient, MIM#615387 Combined immunodeficiency;HP:0005387 21206088 False 2 50;50;0 1.114 True ENSG00000229164 ENSG00000277734 HGNC:12029