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
COL4A1	gene	COL4A1	Expert list;Expert Review Green;Victorian Clinical Genetics Services	Haematuria_Alport		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM#611773			Hematuria;HP:0000790; Proteinuria;HP:0000093			False	3	100;0;0	1.1	True		ENSG00000187498	ENSG00000187498	HGNC:2202													
COL4A3	gene	COL4A3	Expert Review Green;Victorian Clinical Genetics Services	Haematuria_Alport		Renal and urinary tract disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Alport syndrome 2, autosomal recessive, MIM# 203780;Alport syndrome 3, autosomal dominant, MIM# 104200			Hematuria;HP:0000790; Proteinuria;HP:0000093			False	3	100;0;0	1.1	True		ENSG00000169031	ENSG00000169031	HGNC:2204													
COL4A4	gene	COL4A4	Expert Review Green;Victorian Clinical Genetics Services	Haematuria_Alport		Renal and urinary tract disorders	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Alport syndrome 2, autosomal recessive, 203780;Thin basement membrane nephropathy (TBMN), AD;Focal segmental glomerulosclerosis (FSGS), AD			Hematuria;HP:0000790; Proteinuria;HP:0000093	17942953;24052634;12631110;26346198;30450445		False	3	100;0;0	1.1	True		ENSG00000081052	ENSG00000081052	HGNC:2206													
COL4A5	gene	COL4A5	Expert Review Green;Victorian Clinical Genetics Services	Haematuria_Alport		Renal and urinary tract disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Alport syndrome 1, X-linked, MIM# 301050			Hematuria;HP:0000790; Proteinuria;HP:0000093			False	3	100;0;0	1.1	True		ENSG00000188153	ENSG00000188153	HGNC:2207													
MYH9	gene	MYH9	Expert Review Green;Victorian Clinical Genetics Services	Haematuria_Alport		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100			Hematuria;HP:0000790; Proteinuria;HP:0000093			False	3	100;0;0	1.1	True		ENSG00000100345	ENSG00000100345	HGNC:7579													
CD151	gene	CD151	Expert Review Red;Victorian Clinical Genetics Services	Haematuria_Alport		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057			Hematuria;HP:0000790; Proteinuria;HP:0000093	15265795;29138120		False	1	0;0;100	1.1	True		ENSG00000177697	ENSG00000177697	HGNC:1630													
CFH	gene	CFH	Expert Review Red;Victorian Clinical Genetics Services	Haematuria_Alport		Renal and urinary tract disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Complement factor H deficiency, MIM#609814			Hematuria;HP:0000790; Proteinuria;HP:0000093			False	1	50;0;50	1.1	True		ENSG00000000971	ENSG00000000971	HGNC:4883													
CFHR5	gene	CFHR5	Expert Review Red;Victorian Clinical Genetics Services	Haematuria_Alport		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Nephropathy due to CFHR5 deficiency, MIM#614809			Hematuria;HP:0000790; Proteinuria;HP:0000093	30844074;30197990;24067434;21566112;20800271;27490940;24334459		False	1	50;0;50	1.1	True		ENSG00000134389	ENSG00000134389	HGNC:24668													
CLCN5	gene	CLCN5	Expert Review Red;Victorian Clinical Genetics Services	Haematuria_Alport		Renal and urinary tract disorders	Unknown				Hematuria;HP:0000790; Proteinuria;HP:0000093			False	1	0;0;100	1.1	True		ENSG00000171365	ENSG00000171365	HGNC:2023													
COL4A2	gene	COL4A2	Expert Review Red;Victorian Clinical Genetics Services	Haematuria_Alport		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Brain small vessel disease 2, MIM#614483			Hematuria;HP:0000790; Proteinuria;HP:0000093			False	1	0;0;100	1.1	True		ENSG00000134871	ENSG00000134871	HGNC:2203													
CUBN	gene	CUBN	Expert Review Red;Victorian Clinical Genetics Services	Haematuria_Alport		Renal and urinary tract disorders	Unknown				Hematuria;HP:0000790; Proteinuria;HP:0000093			False	1	0;0;100	1.1	True		ENSG00000107611	ENSG00000107611	HGNC:2548													
FN1	gene	FN1	Expert Review Red;Victorian Clinical Genetics Services	Haematuria_Alport		Renal and urinary tract disorders	Unknown				Hematuria;HP:0000790; Proteinuria;HP:0000093			False	1	0;0;100	1.1	True		ENSG00000115414	ENSG00000115414	HGNC:3778													
LMX1B	gene	LMX1B	Expert Review Red;Victorian Clinical Genetics Services	Haematuria_Alport		Renal and urinary tract disorders	Unknown				Hematuria;HP:0000790; Proteinuria;HP:0000093			False	1	0;0;100	1.1	True		ENSG00000136944	ENSG00000136944	HGNC:6654													
NPHS2	gene	NPHS2	Expert Review Red;Victorian Clinical Genetics Services	Haematuria_Alport		Renal and urinary tract disorders	Unknown				Hematuria;HP:0000790; Proteinuria;HP:0000093			False	1	0;0;100	1.1	True		ENSG00000116218	ENSG00000116218	HGNC:13394													
OCRL	gene	OCRL	Expert Review Red;Victorian Clinical Genetics Services	Haematuria_Alport		Renal and urinary tract disorders	Unknown				Hematuria;HP:0000790; Proteinuria;HP:0000093			False	1	0;0;100	1.1	True		ENSG00000122126	ENSG00000122126	HGNC:8108