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
C3	gene	C3	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen	Atypical haemolytic uraemic syndrome		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hemolytic uremic syndrome, atypical, susceptibility to, 5, OMIM:612925				18796626		False	3	67;33;0	3.8	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000125730	ENSG00000125730	HGNC:1318													
CD46	gene	CD46	Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN	Atypical haemolytic uraemic syndrome		Renal	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Hemolytic uremic syndrome, atypical, susceptibility to, 2 612922				14615110;14566051;16621965		False	3	67;33;0	3.8	False		ENSG00000117335	ENSG00000117335	HGNC:6953													
CFB	gene	CFB	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS	Atypical haemolytic uraemic syndrome		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hemolytic uremic syndrome, atypical, susceptibility to, 4 612924				17182750;26826462;19584399;23307876		False	3	67;33;0	3.8	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000243649	ENSG00000243649	HGNC:1037													
CFH	gene	CFH	Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN	Atypical haemolytic uraemic syndrome		Renal	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Hemolytic uremic syndrome, atypical, susceptibility to, 1 235400				26826462		False	3	67;33;0	3.8	False		ENSG00000000971	ENSG00000000971	HGNC:4883													
CFHR1	gene	CFHR1	Expert Review Green;NHS GMS;UKGTN	Atypical haemolytic uraemic syndrome		Renal	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	"Hemolytic uremic syndrome, atypical, susceptibility to	235400"				16998489; 17367211		False	3	50;50;0	3.8	False		ENSG00000244414	ENSG00000244414	HGNC:4888													
CFHR3	gene	CFHR3	Expert Review Green;Literature;UKGTN	Atypical haemolytic uraemic syndrome		Renal	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	"Hemolytic uremic syndrome, atypical, susceptibility to	235400"				16998489; 17367211		False	3	100;0;0	3.8	False		ENSG00000116785	ENSG00000116785	HGNC:16980													
CFI	gene	CFI	Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN	Atypical haemolytic uraemic syndrome		Renal	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Hemolytic uremic syndrome, atypical, susceptibility to, 3, OMIM:612923;Complement factor I deficiency, OMIM:610984				16621965;17597211;15173250;23685748;17018561;10352206		False	3	67;33;0	3.8	False		ENSG00000205403	ENSG00000205403	HGNC:5394													
DGKE	gene	DGKE	Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN	Atypical haemolytic uraemic syndrome		Renal	BIALLELIC, autosomal or pseudoautosomal	Hemolytic uremic syndrome, atypical, susceptibility to, 7 615008				 23542698; 25854283		False	3	50;50;0	3.8	False		ENSG00000153933	ENSG00000153933	HGNC:2852													
MMACHC	gene	MMACHC	Expert Review Green;NHS GMS	Atypical haemolytic uraemic syndrome		Renal	BIALLELIC, autosomal or pseudoautosomal	"Methylmalonic aciduria and homocystinuria, cblC type,	277400"				24210589;1593355;11972107;12210350;17874135;29068997;27324188		False	3	50;50;0	3.8	False		ENSG00000132763	ENSG00000132763	HGNC:24525