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 Review;Expert Review Green;NHS GMS	Haematuria		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Exophytic renal cysts;haematuria;Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps OMIM:611773				18160688;20818663;27190376;26839400;26260163;28717939;19238787		False	3	100;0;0	2.17	True		ENSG00000187498	ENSG00000187498	HGNC:2202													
COL4A3	gene	COL4A3	Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN	Haematuria		Renal	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Alport syndrome, autosomal dominant OMIM:104200;Alport syndrome, autosomal recessive OMIM:203780;Hematuria, benign familial OMIM:141200				17942953;30506145;29987460;24052634		False	3	100;0;0	2.17	True	Other - please provide details in the comments	ENSG00000169031	ENSG00000169031	HGNC:2204													
COL4A4	gene	COL4A4	Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN	Haematuria		Renal	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Alport syndrome 2, autosomal recessive OMIM:203780;Hematuria, familial benign OMIM:141200				17942953;30506145;29987460;24052634		False	3	100;0;0	2.17	True	Other - please provide details in the comments	ENSG00000081052	ENSG00000081052	HGNC:2206													
COL4A5	gene	COL4A5	Eligibility statement prior genetic testing;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN	Haematuria		Renal	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 OMIM:301050				14514738		False	3	100;0;0	2.17	True	Other - please provide details in the comments	ENSG00000188153	ENSG00000188153	HGNC:2207													
MYH9	gene	MYH9	Eligibility statement prior genetic testing;Expert Review Green;NHS GMS	Haematuria		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:155100				10973259;12792306;22627578		False	3	100;0;0	2.17	True		ENSG00000100345	ENSG00000100345	HGNC:7579													
CFHR5	gene	CFHR5	Expert Review;Expert Review Amber;Literature;NHS GMS	Haematuria		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Nephropathy due to CFHR5 deficiency OMIM:614809				20800271;24067434;23402027		False	2	100;0;0	2.17	True	Other - please provide details in the comments	ENSG00000134389	ENSG00000134389	HGNC:24668													
COL4A6	gene	COL4A6	Expert Review Red;NHS GMS;Radboud University Medical Center, Nijmegen	Haematuria		Renal		diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5; Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4);diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5 Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4);  (originally on Alport syndrome gene panel)						False	1	0;100;0	2.17	True		ENSG00000197565	ENSG00000197565	HGNC:2208													
NPHS2	gene	NPHS2	Expert Review Red;NHS GMS;UKGTN	Haematuria		Renal		Hematuria, Benign Familial;Alport Syndrome, X-Linked;Alport Syndrome, Autosomal Recessive;Alport Syndrome, Autosomal Dominant;Nephrotic Syndrome, Type 2;?Modifier of COL4A variants				26138234		False	1	0;33;67	2.17	True		ENSG00000116218	ENSG00000116218	HGNC:13394