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
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