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 Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN SCID Primary immunodeficiency disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency due to ADA deficiency, 102700;T-B- SCID;T-B+ SCID False 3 100;0;0 1.9 True ENSG00000196839 ENSG00000196839 HGNC:186 AK2 gene AK2 Expert list;Expert Review;Expert Review Green;Literature SCID Primary immunodeficiency disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal reticular dysgenesis with sensorineural deafness 19043416;19043417 False 3 100;0;0 1.9 True ENSG00000004455 ENSG00000004455 HGNC:362 CD3D gene CD3D Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen SCID Primary immunodeficiency disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Severe Combined Immune Deficiency;Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive,;Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive; T-B+ SCID False 3 100;0;0 1.9 True ENSG00000167286 ENSG00000167286 HGNC:1673 CD3E gene CD3E Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen SCID Primary immunodeficiency disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Severe Combined Immune Deficiency;Immunodeficiency due to defect in CD3-epsilon; T-B+ SCID False 3 100;0;0 1.9 True ENSG00000198851 ENSG00000198851 HGNC:1674 DCLRE1C gene DCLRE1C Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN SCID Primary immunodeficiency disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency, Athabascan type, 602450; T-B- SCID; T-B+ SCID; Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation False 3 100;0;0 1.9 True ENSG00000152457 ENSG00000152457 HGNC:17642 IL2RG gene IL2RG Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN SCID 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) Severe combined immunodeficiency, X-linked, 300400;Severe Combined Immune Deficiency;T-B+ SCID;SCID False 3 100;0;0 1.9 True ENSG00000147168 ENSG00000147168 HGNC:6010 IL7R gene IL7R Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen SCID Primary immunodeficiency disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Severe Combined Immune Deficiency;Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive; T-B+ SCID False 3 100;0;0 1.9 True ENSG00000168685 ENSG00000168685 HGNC:6024 JAK3 gene JAK3 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN SCID Primary immunodeficiency disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Severe Combined Immune Deficiency; T-B+ SCID; Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative False 3 100;0;0 1.9 True ENSG00000105639 ENSG00000105639 HGNC:6193 LIG4 gene LIG4 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN SCID Primary immunodeficiency disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal LIG4 syndrome, 606593{Multiple myeloma, resistance to}, 254500Severe combined immunodeficiency with sensitivity to ionizing radiation, 602450;Severe Combined Immunodeficiency with Sensitivity to IonizingRadiation;LIG4 syndrome, 606593{Multiple myeloma, resistance to}, 254500;Severe combined immunodeficiency with sensitivity to ionizing radiation, 602450;T-B- SCID;T-B+ SCID;SCID with microcephaly and radiosensitivity False 3 100;0;0 1.9 True ENSG00000174405 ENSG00000174405 HGNC:6601 NHEJ1 gene NHEJ1 Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen SCID Primary immunodeficiency disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency with microcephaly, growth retardation, and;Severe combined immunodeficiency with microcephaly, growth retardation and sensitivity to ionizing radiation, 611291; T-B- SCID; T-B+ SCID False 3 100;0;0 1.9 True ENSG00000187736 ENSG00000187736 HGNC:25737 PNP gene PNP Emory Genetics Laboratory;Expert Review Green SCID Primary immunodeficiency disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal T-B+ SCID;Immunodeficiency due to purine nucleoside phosphorylase deficiency False 3 100;0;0 1.9 True ENSG00000198805 ENSG00000198805 HGNC:7892 PRKDC gene PRKDC Expert list;Expert Review;Expert Review Green;Literature SCID Primary immunodeficiency disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, with or without neurologic abnormalities 19075392;23722905;25842288 False 3 100;0;0 1.9 True ENSG00000253729 ENSG00000253729 HGNC:9413 PTPRC gene PTPRC Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen SCID Primary immunodeficiency disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal {Hepatitic C virus, susceptibility to}, 609532;Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive; {Hepatitic C virus, susceptibility to}, 609532; T-B+ SCID 10700239;11145714;22689986 False 3 100;0;0 1.9 True ENSG00000081237 ENSG00000081237 HGNC:9666 RAG1 gene RAG1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN SCID Primary immunodeficiency disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Severe Combined Immune Deficiency;Severe combined immunodeficiency, B cell-negative, 601457; T-B- SCID; T-B+ SCID False 3 100;0;0 1.9 True ENSG00000166349 ENSG00000166349 HGNC:9831 RAG2 gene RAG2 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN SCID Primary immunodeficiency disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Severe Combined Immune Deficiency;Severe combined immunodeficiency, B cell-negative, 601457; T-B- SCID; T-B+ SCID; Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive False 3 100;0;0 1.9 True ENSG00000175097 ENSG00000175097 HGNC:9832 TCN2 gene TCN2 Expert Review Green;Literature SCID 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. PMID: 24305960;7980584;7849710;20352340;18956254 False 3 100;0;0 1.9 True ENSG00000185339 ENSG00000185339 HGNC:11653 ZAP70 gene ZAP70 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services SCID Primary immunodeficiency disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Severe Combined Immune Deficiency;Selective T-cell defect False 3 100;0;0 1.9 True ENSG00000115085 ENSG00000115085 HGNC:12858