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 AICDA gene AICDA Expert Review;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN A- or hypo-gammaglobulinaemia Primary immunodeficiency disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Hyper IgM syndrome with lymphoid hyperplasia;Immunodeficiency with hyper-IgM, type 2, 605258; Primary Immune Deficiencies 12958596;21700883;27701145 False 3 100;0;0 1.30 False ENSG00000111732 ENSG00000111732 HGNC:13203 BLNK gene BLNK Expert Review Green;Radboud University Medical Center, Nijmegen A- or hypo-gammaglobulinaemia Primary immunodeficiency disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Agammaglobulinemia 4, 613502;agammaglobulinaemia with absent B cells 10583958;19302039;24582315;25893637 False 3 100;0;0 1.30 False ENSG00000095585 ENSG00000095585 HGNC:14211 BTK gene BTK Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN A- or hypo-gammaglobulinaemia Primary immunodeficiency disorders Haematological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Agammaglobulinemia, X-linked;Agammaglobulinemia, X-linked 1, 300755Agammaglobulinemia and isolated hormone deficiency, 307200 False 3 100;0;0 1.30 False ENSG00000010671 ENSG00000010671 HGNC:1133 CD19 gene CD19 Expert Review Green;Literature A- or hypo-gammaglobulinaemia Primary immunodeficiency disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 3 613493;hypogammaglobulinemia 16672701;21330302;21159371;16672701;21330302;21159371 False 3 100;0;0 1.30 False ENSG00000177455 ENSG00000177455 HGNC:1633 CTLA4 gene CTLA4 Expert Review Green;Literature A- or hypo-gammaglobulinaemia Primary immunodeficiency disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CVID;hypogammaglobulinaemia;lymphadenopathy;T cell lymphopenia;enteropathy;interstitual lung disease;autoimmunity;Autoimmune lymphoproliferative syndrome, type V 616100 25213377;25329329 False 3 100;0;0 1.30 False ENSG00000163599 ENSG00000163599 HGNC:2505 DNMT3B gene DNMT3B Expert Review Green;Literature A- or hypo-gammaglobulinaemia Primary immunodeficiency disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 242860 10647011 False 3 100;0;0 1.30 False ENSG00000088305 ENSG00000088305 HGNC:2979 EXTL3 gene EXTL3 Expert Review Green;Literature A- or hypo-gammaglobulinaemia Primary immunodeficiency disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal "Immunoskeletal dysplasia with neurodevelopmental abnormalities 617425" 28148688;28132690 False 3 0;0;0 1.30 False ENSG00000012232 ENSG00000012232 HGNC:3518 IGHM gene IGHM Expert Review Green;Literature A- or hypo-gammaglobulinaemia Primary immunodeficiency disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal "Agammaglobulinemia 1 601495" 8890099;12370281 False 3 100;0;0 1.30 False ENSG00000211899 ENSG00000211899 HGNC:5541 IKZF1 gene IKZF1 Expert Review Green;Literature A- or hypo-gammaglobulinaemia Primary immunodeficiency disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Immunodeficiency, common variable, 13 616873" 21548011;26981933 False 3 100;0;0 1.30 False ENSG00000185811 ENSG00000185811 HGNC:13176 PIK3CD gene PIK3CD Expert Review Green;Radboud University Medical Center, Nijmegen A- or hypo-gammaglobulinaemia Primary immunodeficiency disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Immunodeficiency 14 615513" 24165795;24136356 False 3 100;0;0 1.30 False ENSG00000171608 ENSG00000171608 HGNC:8977 PIK3R1 gene PIK3R1 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN A- or hypo-gammaglobulinaemia Primary immunodeficiency disorders Haematological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal "Agammaglobulinemia 7, autosomal recessive, 615214;SHORT syndrome, 269880;Immunodeficiency 36 616005" 22351933;9888855;25133428;25488983 False 3 100;0;0 1.30 False ENSG00000145675 ENSG00000145675 HGNC:8979 TCN2 gene TCN2 Expert Review Green;Literature A- or hypo-gammaglobulinaemia Primary immunodeficiency disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Transcobalamin II deficiency;can have a presentation similar to severe combined immunodeficiency;pancytopenia;neutropenic colitis;Agammaglobulinemia;megaloblastic bone marrow;thrombocytopenia;neutropenia;failure to thrive;hypotonia, myoclonic like movements, pallor, purpura, anaemia, thrombocytopenia, megaloblastosis, aplastic bone marrow. 275350 PMID: 24305960;7980584;7849710;20352340;18956254 False 3 100;0;0 1.30 False ENSG00000185339 ENSG00000185339 HGNC:11653 LAT gene LAT Expert Review Amber;Other A- or hypo-gammaglobulinaemia Primary immunodeficiency disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 52, 617514 27522155; 27242165 False 2 0;0;0 1.30 False ENSG00000213658 ENSG00000213658 HGNC:18874 MYD88 gene MYD88 Expert Review Amber;Radboud University Medical Center, Nijmegen A- or hypo-gammaglobulinaemia Primary immunodeficiency disorders Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260;Macroglobulinemia, Waldenstrom, somatic, 153600 18669862;23215570 False 2 33;33;33 1.30 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000172936 ENSG00000172936 HGNC:7562 NFKB2 gene NFKB2 Expert Review;Expert Review Amber A- or hypo-gammaglobulinaemia Primary immunodeficiency disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hypogammaglobuliaemia; immune dysregulation; central adrenal insufficiency 24140114; 24888602; 25237204; 25524009 False 2 100;0;0 1.30 False ENSG00000077150 ENSG00000077150 HGNC:7795 PLCG2 gene PLCG2 Expert list;Expert Review Amber;Literature;Other A- or hypo-gammaglobulinaemia Primary immunodeficiency disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogammaglobulinaemia, cold induced urticaria, autoinflammatory;Autoinflammation, antibody deficiency, and immune dysregulation syndrome;Familial cold autoinflammatory syndrome 3 PMID: 22236196, PMID: 23000145 False 2 100;0;0 1.30 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000197943 ENSG00000197943 HGNC:9066 TCF3 gene TCF3 Expert Review Amber;Literature A- or hypo-gammaglobulinaemia Primary immunodeficiency disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Agammaglobulinemia;Agammaglobulinemia 8, autosomal dominant, 616941;Primary immunodeficiency 24216514;28532655 False 2 100;0;0 1.30 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000071564 ENSG00000071564 HGNC:11633 TNFRSF13B gene TNFRSF13B Expert Review Amber;Radboud University Medical Center, Nijmegen A- or hypo-gammaglobulinaemia Primary immunodeficiency disorders Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunoglobulin A deficiency 2, 609529;Immunodeficiency, common variable, 2, 240500 16007086;16007087 False 2 0;0;100 1.30 False ENSG00000240505 ENSG00000240505 HGNC:18153 TTC37 gene TTC37 Expert Review;Expert Review Amber A- or hypo-gammaglobulinaemia Primary immunodeficiency disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal intrauterine growth retardation, woolly hair;facial dysmorphism;intractable diarrhoea in infancy requiring total parenteral nutrition; hypogammaglobulinaemia 20176027;21120949;25688341 False 2 100;0;0 1.30 False ENSG00000198677 ENSG00000198677 HGNC:23639 UNG gene UNG Expert Review;Expert Review Amber A- or hypo-gammaglobulinaemia Primary immunodeficiency disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Hyper IgM syndrome with lymphoid hyperplasia 12958596 False 2 100;0;0 1.30 False ENSG00000076248 ENSG00000076248 HGNC:12572