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
ADAMTS13	gene	ADAMTS13	Expert Review Amber;Expert Review Green;Victorian Clinical Genetics Services	Atypical Haemolytic Uraemic Syndrome_MPGN		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Thrombotic thrombocytopenic purpura, familial, OMIM #274150			Haemolytic anaemia;HP:0001878			False	2	50;50;0	0.53	True		ENSG00000160323	ENSG00000160323	HGNC:1366													
C1GALT1C1	gene	C1GALT1C1	Expert Review Amber;Literature	Atypical Haemolytic Uraemic Syndrome_MPGN		Renal and urinary tract disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Haemolytic uraemic syndrome, atypical, 8, with rhizomelic short stature, MIM# 301110			Haemolytic anaemia;HP:0001878	36599939;37216524		False	2	0;50;50	0.53	True		ENSG00000171155	ENSG00000171155	HGNC:24338													
THBD	gene	THBD	Expert Review Amber;Expert Review Green;Victorian Clinical Genetics Services	Atypical Haemolytic Uraemic Syndrome_MPGN		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	{Hemolytic uremic syndrome, atypical, susceptibility to, 6};OMIM #612926			Haemolytic anaemia;HP:0001878	19625716		False	2	33;67;0	0.53	True		ENSG00000178726	ENSG00000178726	HGNC:11784