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
ARHGEF1	gene	ARHGEF1	Expert list;Expert Review Amber;Literature	Predominantly Antibody Deficiency		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency 62, MIM#618459			Decreased immunoglobulin level;HP:0041078	32048120;30521495;16286020		False	2	0;50;50	1.0	True		ENSG00000076928	ENSG00000076928	HGNC:681													
CTNNBL1	gene	CTNNBL1	Expert list;Expert Review Amber;Literature	Predominantly Antibody Deficiency		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	common variable immunodeficiency MONDO:0015517			Decreased immunoglobulin level;HP:0041078	23343763;32484799		False	2	0;100;0	1.0	True		ENSG00000132792	ENSG00000132792	HGNC:15879													
IGKC	gene	IGKC	Expert list;Expert Review Amber	Predominantly Antibody Deficiency		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	recurrent infections associated with rare immunoglobulin isotypes deficiency MONDO:0013576			Decreased immunoglobulin level;HP:0041078	https://search.clinicalgenome.org/CCID:005121		False	2	0;100;0	1.0	True		ENSG00000211592	ENSG00000211592	HGNC:5716													
INO80	gene	INO80	Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services	Predominantly Antibody Deficiency		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Primary immunodeficiency, MONDO:0003778			Decreased immunoglobulin level;HP:0041078	25312759		False	2	0;100;0	1.0	True		ENSG00000128908	ENSG00000128908	HGNC:26956													
MS4A1	gene	MS4A1	Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services	Predominantly Antibody Deficiency		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency, common variable, 5, MIM# 613495			Decreased immunoglobulin level;HP:0041078	20038800		False	2	0;50;50	1.0	True		ENSG00000156738	ENSG00000156738	HGNC:7315													
PAX5	gene	PAX5	Expert Review Amber;Expert Review Green;Literature;Victorian Clinical Genetics Services	Predominantly Antibody Deficiency		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder MONDO:0700092, PAX5-related;Hypogammaglobulinaemia			Decreased immunoglobulin level;HP:0041078	PMID: 35947077		False	2	33;67;0	1.0	True		ENSG00000196092	ENSG00000196092	HGNC:8619													
PIK3CG	gene	PIK3CG	Expert Review Amber;Literature	Predominantly Antibody Deficiency		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency 97 with autoinflammation, MIM# 619802;Humoral deficiency;Immune dysregulation;HLH			Decreased immunoglobulin level;HP:0041078	PMID: 31554793;PMID: 33054089		False	2	0;100;0	1.0	True		ENSG00000105851	ENSG00000105851	HGNC:8978													
POU2AF1	gene	POU2AF1	Expert Review;Expert Review Amber;Literature	Predominantly Antibody Deficiency		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Agammaglobulinaemia, MONDO:0015977, POU2AF1-related			Decreased immunoglobulin level;HP:0041078	PMID: 33571536		False	2	0;33;67	1.0	True		ENSG00000110777	ENSG00000110777	HGNC:9211													
SH3KBP1	gene	SH3KBP1	Expert list;Expert Review Amber	Predominantly Antibody Deficiency		Immunological disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	"Immunodeficiency 61, MIM#	300310"			Decreased immunoglobulin level;HP:0041078	29636373;21708930		False	2	0;50;50	1.0	True		ENSG00000147010	ENSG00000147010	HGNC:13867													
TNFRSF13C	gene	TNFRSF13C	Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services	Predominantly Antibody Deficiency		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency, common variable, 4, MIM# 613494			Decreased immunoglobulin level;HP:0041078	19666484;26613719		False	2	0;100;0	1.0	True		ENSG00000159958	ENSG00000159958	HGNC:17755