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
ADAMTS9	gene	ADAMTS9	Expert Review Amber;NHS GMS	Tubulointerstitial kidney disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis-Related Ciliopathy (no OMIM number yet)				30609407		False	2	0;100;0	3.32	False		ENSG00000163638	ENSG00000163638	HGNC:13202													
APOA4	gene	APOA4	Expert Review Amber;Literature	Tubulointerstitial kidney disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Tubulointerstitial kidney disease, autosomal dominant 6, OMIM: 621106;tubulointerstitial kidney disease, autosomal dominant 6, MONDO:0976234				21900878;27262366;28449784;33751222;38096951;39699959		False	2	100;0;0	3.32	False		ENSG00000110244	ENSG00000110244	HGNC:602													
DCDC2	gene	DCDC2	Expert Review Amber;NHS GMS	Tubulointerstitial kidney disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Sclerosing cholangitis, neonatal MIM 617394;?Deafness, autosomal recessive 66 MIM 610212;Nephronophthisis 19 MIM 616217				25557784		False	2	0;100;0	3.32	False		ENSG00000146038	ENSG00000146038	HGNC:18141													
GLIS2	gene	GLIS2	Expert Review Amber;NHS GMS	Tubulointerstitial kidney disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis 7 MIM 611498						False	2	0;100;0	3.32	False		ENSG00000126603	ENSG00000126603	HGNC:29450													
JAG1	gene	JAG1	Expert list;Expert Review Amber	Tubulointerstitial kidney disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Autosomal dominant tubulointerstitial kidney disease				41061854		False	2	100;0;0	3.32	False		ENSG00000101384	ENSG00000101384	HGNC:6188													
TMEM72	gene	TMEM72	Expert Review Amber;Literature	Tubulointerstitial kidney disease		Renal	BIALLELIC, autosomal or pseudoautosomal	nephronophthisis, MONDO:0019005				41308066		False	2	100;0;0	3.32	False		ENSG00000187783	ENSG00000187783	HGNC:31658													
ZNF423	gene	ZNF423	Expert Review Amber;NHS GMS	Tubulointerstitial kidney disease		Renal	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Joubert syndrome 19, OMIM:614844;Nephronophthisis 14, OMIM:614844				22863007		False	2	100;0;0	3.32	False		ENSG00000102935	ENSG00000102935	HGNC:16762