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
C1QB	gene	C1QB	Expert Review Green;Other	Inherited complement deficiency	Primary immunodeficiency disorders	Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency due to an early component of complement deficiency; ORPHA169147; OMIM 613652				9476130;17513176;2894352;23651859;24160257;25454803;17513176;24160257;12133956		False	3	0;0;0	0.12	False		ENSG00000173369	ENSG00000173369	HGNC:1242													
C2	gene	C2	Illumina TruGenome Clinical Sequencing Services	Inherited complement deficiency	Primary immunodeficiency disorders	Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	Complement Component C2 Deficiency						False	1	0;0;0	0.12	False		ENSG00000166278	ENSG00000166278	HGNC:1248													
CFD	gene	CFD	Radboud University Medical Center, Nijmegen	Inherited complement deficiency	Primary immunodeficiency disorders	Haematological disorders		Complement factor D deficiency, 613912						False	1	0;0;0	0.12	False		ENSG00000197766	ENSG00000197766	HGNC:2771													
CFH	gene	CFH	Radboud University Medical Center, Nijmegen	Inherited complement deficiency	Primary immunodeficiency disorders	Haematological disorders		{Hemolytic uremic syndrome, atypical, susceptibility to, 1}, 235400; Complement factor H deficiency, 609814;{Macular degeneration, age-related, 4}, 610698; Basal laminar drusen, 126700						False	1	0;0;0	0.12	False		ENSG00000000971	ENSG00000000971	HGNC:4883													
CFI	gene	CFI	Radboud University Medical Center, Nijmegen	Inherited complement deficiency	Primary immunodeficiency disorders	Haematological disorders		Complement factor I deficiency, 610984; {Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923;{Macular degeneration, age-related, 13, susceptibility to}, 615439 						False	1	0;0;0	0.12	False		ENSG00000205403	ENSG00000205403	HGNC:5394													
MBL2	gene	MBL2	Illumina TruGenome Clinical Sequencing Services	Inherited complement deficiency	Primary immunodeficiency disorders	Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Mannose-Binding Protein Deficiency						False	1	0;0;0	0.12	False		ENSG00000165471	ENSG00000165471	HGNC:6922