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
ADCY10	gene	ADCY10	Expert list;Expert Review Amber;Expert Review Red;Victorian Clinical Genetics Services	Renal Tubulopathies and related disorders		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hypercalciuria, absorptive, susceptibility to, MIM#143870			Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085	11932268		False	2	0;100;0	1.17	False		ENSG00000143199	ENSG00000143199	HGNC:21285													
CLCNKA	gene	CLCNKA	Expert Review Amber;KidGen_Tubulopathies v38.1.0;Victorian Clinical Genetics Services	Renal Tubulopathies and related disorders		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Bartter syndrome, type 4b, digenic;OMIM #613090			Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085	18310267;15044642		False	2	0;100;0	1.17	False		ENSG00000186510	ENSG00000186510	HGNC:2026													
FXYD2	gene	FXYD2	Expert Review Amber;KidGen_Magnesium v38.1.0	Renal Tubulopathies and related disorders		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Renal hypomagnesemia 2 MONDO:0007937			Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085	17980699;18448590;12763862;25765846;27014088;11062458		False	2	0;100;0	1.17	False		ENSG00000137731	ENSG00000137731	HGNC:4026													
KL	gene	KL	Expert Review Amber;KidGen_CalcPhos v38.1.0	Renal Tubulopathies and related disorders		Renal and urinary tract disorders	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Hyperphosphatemia;Tumoral calcinosis, hyperphosphatemic, familial, 3 MIM#617994			Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085	17710231;31013726;9363890		False	2	0;100;0	1.17	False		ENSG00000133116	ENSG00000133116	HGNC:6344													
NDUFAF6	gene	NDUFAF6	Expert list;Expert Review Amber	Renal Tubulopathies and related disorders		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	"Fanconi renotubular syndrome 5, MIM#	618913"			Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085	27466185		False	2	0;100;0	1.17	False		ENSG00000156170	ENSG00000156170	HGNC:28625													
OXGR1	gene	OXGR1	Expert Review Amber;Literature	Renal Tubulopathies and related disorders		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Nephrolithiasis, calcium oxalate, 2, with nephrocalcinosis, MIM# 620374			Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085	PMID:35671463		False	2	0;100;0	1.17	True		ENSG00000165621	ENSG00000165621	HGNC:4531													
SLC1A1	gene	SLC1A1	Expert Review Amber;Victorian Clinical Genetics Services	Renal Tubulopathies and related disorders		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Dicarboxylic aminoaciduria, MIM# 222730			Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085	21123949		False	2	0;100;0	1.17	False		ENSG00000106688	ENSG00000106688	HGNC:10939													
SLC36A2	gene	SLC36A2	Expert Review Amber;Literature;Victorian Clinical Genetics Services	Renal Tubulopathies and related disorders		Renal and urinary tract disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Iminoglycinuria, digenic MIM#242600;Hyperglycinuria MIM#138500;Disorders of amino acid transport			Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085	26141664;19033659;27604308		False	2	100;0;0	1.17	False		ENSG00000186335	ENSG00000186335	HGNC:18762