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
BICC1	gene	BICC1	Expert Review Amber;Victorian Clinical Genetics Services	Renal Macrocystic Disease		Renal and urinary tract disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Multicystic dysplastic kidney, MONDO:0015988;polycystic kidney disease, MONDO:0020642			Renal cyst;HP:0000107	21922595, 35005812, 39253489, 39655693, 41278337		False	2	0;50;50	1.0	True		ENSG00000122870	ENSG00000122870	HGNC:19351													
COL4A3	gene	COL4A3	Expert Review Amber;Literature	Renal Macrocystic Disease		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Alport syndrome MONDO:0018965			Renal cyst;HP:0000107	39190485;38514012		False	2	50;50;0	1.0	True		ENSG00000169031	ENSG00000169031	HGNC:2204													
COL4A4	gene	COL4A4	Expert Review Amber;Literature	Renal Macrocystic Disease		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Alport syndrome MONDO:0018965			Renal cyst;HP:0000107	38514012		False	2	50;50;0	1.0	True		ENSG00000081052	ENSG00000081052	HGNC:2206													
COL4A5	gene	COL4A5	Expert Review Amber;Literature	Renal Macrocystic Disease		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 MONDO:0018965			Renal cyst;HP:0000107	38790225;38680391;38514012		False	2	50;50;0	1.0	True		ENSG00000188153	ENSG00000188153	HGNC:2207													
SEC16B	gene	SEC16B	Expert Review;Expert Review Amber	Renal Macrocystic Disease		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Polycystic liver disease (with or without kidney cysts), MONDO:0000447, SEC16B-related			Renal cyst;HP:0000107	PMID: 28375157, 28862642, 30652979		False	2	0;50;50	1.0	True		ENSG00000120341	ENSG00000120341	HGNC:30301													
UGGT1	gene	UGGT1	Expert Review Amber;Literature	Renal Macrocystic Disease		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type IICC, MIM# 621381			Renal cyst;HP:0000107	PMID:40267907		False	2	0;100;0	1.0	True		ENSG00000136731	ENSG00000136731	HGNC:15663