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
ATP6V1C2	gene	ATP6V1C2	Expert Review Red;Literature	Renal Tubulopathies and related disorders		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Distal renal tubular acidosis			Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085	31959358		False	1	0;0;100	1.17	False		ENSG00000143882	ENSG00000143882	HGNC:18264													
EGF	gene	EGF	Expert Review Red;KidGen_Magnesium v38.1.0	Renal Tubulopathies and related disorders		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Hypomagnesemia 4, renal, MIM#611718			Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085	17671655		False	1	0;0;100	1.17	True		ENSG00000138798	ENSG00000138798	HGNC:3229													
EGFR	gene	EGFR	Expert Review Red;KidGen_Magnesium v38.1.0	Renal Tubulopathies and related disorders		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Inflammatory skin and bowel disease, neonatal, 2;OMIM # 616069			Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085	24691054		False	1	0;0;100	1.17	False		ENSG00000146648	ENSG00000146648	HGNC:3236													
SLC26A1	gene	SLC26A1	Expert Review Red;KidGen_MetabolicRenal v38.1.0;Victorian Clinical Genetics Services	Renal Tubulopathies and related disorders		Renal and urinary tract disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Nephrolithiasis, calcium oxalate, MIM#167030			Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085	27125215;20160351;30383413;27210743		False	1	0;50;50	1.17	False		ENSG00000145217	ENSG00000145217	HGNC:10993													
SLC6A20	gene	SLC6A20	Expert list;Expert Review Red	Renal Tubulopathies and related disorders		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hyperglycinuria, MIM# 138500			Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085	24816252;19033659;36820062		False	1	50;0;50	1.17	True		ENSG00000163817	ENSG00000163817	HGNC:30927													
SLC6A6	gene	SLC6A6	Expert Review Red;Literature	Renal Tubulopathies and related disorders		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Primary hyperoxaluria, MONDO:0002474, SLC26A6-related			Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085	35115415;21170874;32660969		False	1	0;0;100	1.17	True		ENSG00000131389	ENSG00000131389	HGNC:11052													
SLC9A3R1	gene	SLC9A3R1	Expert Review Red;KidGen_CalcPhos v38.1.0;Victorian Clinical Genetics Services	Renal Tubulopathies and related disorders		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287			Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085	18784102		False	1	0;0;100	1.17	True		ENSG00000109062	ENSG00000109062	HGNC:11075													
TRPV5	gene	TRPV5	Expert Review Red;Literature	Renal Tubulopathies and related disorders		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	TRPV5-related hypercalciuria (MONDO:0009550)			Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085	38528055;14679186		False	1	0;0;100	1.17	True		ENSG00000127412	ENSG00000127412	HGNC:3145