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