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