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
CFHR4	gene	CFHR4	Other	Atypical haemolytic uraemic syndrome		Renal	Unknown	Age related macular degeneration;Atypical hemolytic uremic syndrome susceptibility				19861685;23830046;28822440		False	1	0;0;100	3.8	False		ENSG00000134365	ENSG00000134365	HGNC:16979													
INF2	gene	INF2	NHS GMS	Atypical haemolytic uraemic syndrome		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Charcot-Marie-Tooth disease, dominant intermediate E, 614455;Glomerulosclerosis, focal segmental, 5, 613237				27974406		False	1	0;50;50	3.8	False		ENSG00000203485	ENSG00000203485	HGNC:23791													
THBD	gene	THBD	Expert Review Red;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, 6, 612926;Thrombophilia due to thrombomodulin defect 614486				19625716;25135378;20513133;23307876		False	1	0;20;80	3.8	False		ENSG00000178726	ENSG00000178726	HGNC:11784													
VTN	gene	VTN	NHS GMS	Atypical haemolytic uraemic syndrome		Renal	Unknown	Atypical haemolytic uraemic syndrome;aHUS				30377230		False	1	0;50;50	3.8	False		ENSG00000109072	ENSG00000109072	HGNC:12724													
