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;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, 5}, MIM# 612925			Haemolytic anaemia;HP:0001878	18796626;34248927;33691638		False	3	100;0;0	0.53	True		ENSG00000125730	ENSG00000125730	HGNC:1318													
CD46	gene	CD46	Expert Review Green;Victorian Clinical Genetics Services	Atypical Haemolytic Uraemic Syndrome_MPGN		Renal and urinary tract disorders	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	{Susceptibility to atypical hemolytic uremic syndrome 2} (MIM#612922), AD, AR;Atypical hemolytic uremic syndrome 2			Haemolytic anaemia;HP:0001878	26054645;26826462		False	3	100;0;0	0.53	True		ENSG00000117335	ENSG00000117335	HGNC:6953													
CFB	gene	CFB	Expert Review Green;Victorian Clinical Genetics Services	Atypical Haemolytic Uraemic Syndrome_MPGN		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Haemolytic uremic syndrome, atypical, susceptibility to, 4, MIM# 612924			Haemolytic anaemia;HP:0001878	33725982;33273796;33126970;31242818		False	3	100;0;0	0.53	True		ENSG00000243649	ENSG00000243649	HGNC:1037													
CFH	gene	CFH	Expert Review Green;Victorian Clinical Genetics Services	Atypical Haemolytic Uraemic Syndrome_MPGN		Renal and urinary tract disorders	Unknown				Haemolytic anaemia;HP:0001878			False	3	100;0;0	0.53	False		ENSG00000000971	ENSG00000000971	HGNC:4883													
CFHR1	gene	CFHR1	Expert Review Green;Victorian Clinical Genetics Services	Atypical Haemolytic Uraemic Syndrome_MPGN		Renal and urinary tract disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	{Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400			Haemolytic anaemia;HP:0001878	32424742		False	3	50;50;0	0.53	True		ENSG00000244414	ENSG00000244414	HGNC:4888													
CFHR2	gene	CFHR2	Expert list;Expert Review Green	Atypical Haemolytic Uraemic Syndrome_MPGN		Renal and urinary tract disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	C3 glomerulopathy;C3G;Immune complex MPGN;IC-MPGN			Haemolytic anaemia;HP:0001878	24334459;23728178;20800271		False	3	100;0;0	0.53	True		ENSG00000080910	ENSG00000080910	HGNC:4890													
CFHR3	gene	CFHR3	Expert Review Green;Victorian Clinical Genetics Services	Atypical Haemolytic Uraemic Syndrome_MPGN		Renal and urinary tract disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	{Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400			Haemolytic anaemia;HP:0001878	32424742		False	3	50;50;0	0.53	True		ENSG00000116785	ENSG00000116785	HGNC:16980													
CFHR5	gene	CFHR5	Expert Review Green;Victorian Clinical Genetics Services	Atypical Haemolytic Uraemic Syndrome_MPGN		Renal and urinary tract disorders	Unknown				Haemolytic anaemia;HP:0001878			False	3	100;0;0	0.53	False		ENSG00000134389	ENSG00000134389	HGNC:24668													
CFI	gene	CFI	Expert Review Green;Victorian Clinical Genetics Services	Atypical Haemolytic Uraemic Syndrome_MPGN		Renal and urinary tract disorders	Unknown				Haemolytic anaemia;HP:0001878			False	3	100;0;0	0.53	False		ENSG00000205403	ENSG00000205403	HGNC:5394													
DGKE	gene	DGKE	Expert Review Green;Victorian Clinical Genetics Services	Atypical Haemolytic Uraemic Syndrome_MPGN		Renal and urinary tract disorders	Unknown				Haemolytic anaemia;HP:0001878			False	3	100;0;0	0.53	False		ENSG00000153933	ENSG00000153933	HGNC:2852													
MMACHC	gene	MMACHC	Expert list;Expert Review Green;NHS GMS	Atypical Haemolytic Uraemic Syndrome_MPGN		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400			Haemolytic anaemia;HP:0001878			False	3	100;0;0	0.53	True		ENSG00000132763	ENSG00000132763	HGNC:24525													
TSEN2	gene	TSEN2	Expert list;Expert Review Green;Literature;Victorian Clinical Genetics Services	Atypical Haemolytic Uraemic Syndrome_MPGN		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	TRACK syndrome			Haemolytic anaemia;HP:0001878	PMID: 34964109		False	3	67;0;33	0.53	True		ENSG00000154743	ENSG00000154743	HGNC:28422													
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													
VTN	gene	VTN	Expert Review Red;Victorian Clinical Genetics Services	Atypical Haemolytic Uraemic Syndrome_MPGN		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Atypical haemolytic uraemic syndrome			Haemolytic anaemia;HP:0001878	30377230		False	1	0;100;0	0.53	True		ENSG00000109072	ENSG00000109072	HGNC:12724