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
ACTA2	gene	ACTA2	Expert Review Red	Unexplained young onset end-stage renal disease - additional genes		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Smooth muscle dysfunction syndrome, OMIM:613834						False	1	33;33;33	1.6	False		ENSG00000107796	ENSG00000107796	HGNC:130													
BICC1	gene	BICC1	Expert Review Red	Unexplained young onset end-stage renal disease - additional genes		Renal	Unknown	{Renal dysplasia, cystic, susceptibility to}, OMIM:601331						False	1	0;20;80	1.6	False		ENSG00000122870	ENSG00000122870	HGNC:19351													
BMP4	gene	BMP4	Expert Review Red	Unexplained young onset end-stage renal disease - additional genes		Renal	Unknown	Microphthalmia, syndromic 6, OMIM:607932						False	1	0;33;67	1.6	False		ENSG00000125378	ENSG00000125378	HGNC:1071													
CHD1L	gene	CHD1L	Expert Review Red	Unexplained young onset end-stage renal disease - additional genes		Renal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	congenital anomaly of kidney and urinary tract, MONDO:0019719				22146311;24429398		False	1	0;50;50	1.6	False		ENSG00000131778	ENSG00000131778	HGNC:1916													
COX10	gene	COX10	Expert Review Red	Unexplained young onset end-stage renal disease - additional genes		Renal	Unknown	Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046						False	1	0;25;75	1.6	False		ENSG00000006695	ENSG00000006695	HGNC:2260													
DACT1	gene	DACT1	Expert Review Red	Unexplained young onset end-stage renal disease - additional genes		Renal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Townes-Brocks syndrome 2, OMIM:617466				19701191;22610794;28054444		False	1	0;33;67	1.6	False		ENSG00000165617	ENSG00000165617	HGNC:17748													
DLG3	gene	DLG3	Expert Review Red	Unexplained young onset end-stage renal disease - additional genes		Renal	Unknown							False	1	0;67;33	1.6	False		ENSG00000082458	ENSG00000082458	HGNC:2902													
FOXC1	gene	FOXC1	Expert Review Red	Unexplained young onset end-stage renal disease - additional genes		Renal	Unknown							False	1	0;33;67	1.6	False		ENSG00000054598	ENSG00000054598	HGNC:3800													
FOXC2	gene	FOXC2	Expert Review Red	Unexplained young onset end-stage renal disease - additional genes		Renal	Unknown							False	1	0;33;67	1.6	False		ENSG00000176692	ENSG00000176692	HGNC:3801													
GDNF	gene	GDNF	Expert Review Red	Unexplained young onset end-stage renal disease - additional genes		Renal	Unknown							False	1	0;33;67	1.6	False		ENSG00000168621	ENSG00000168621	HGNC:4232													
GREM1	gene	GREM1	Expert Review Red	Unexplained young onset end-stage renal disease - additional genes		Renal	Unknown							False	1	0;33;67	1.6	False		ENSG00000166923	ENSG00000166923	HGNC:2001													
HCN3	gene	HCN3	Expert Review Red	Unexplained young onset end-stage renal disease - additional genes		Renal	Unknown							False	1	0;33;67	1.6	False		ENSG00000143630	ENSG00000143630	HGNC:19183													
KIT	gene	KIT	Expert Review Red	Unexplained young onset end-stage renal disease - additional genes		Renal	Unknown							False	1	0;33;67	1.6	False		ENSG00000157404	ENSG00000157404	HGNC:6342													
MYH11	gene	MYH11	Expert Review Red	Unexplained young onset end-stage renal disease - additional genes		Renal	BIALLELIC, autosomal or pseudoautosomal	Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, OMIM:619351						False	1	0;33;67	1.6	False		ENSG00000133392	ENSG00000133392	HGNC:7569													
ROBO2	gene	ROBO2	Expert Review Red	Unexplained young onset end-stage renal disease - additional genes		Renal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Vesicoureteral reflux 2, OMIM:610878						False	1	0;20;80	1.6	False		ENSG00000185008	ENSG00000185008	HGNC:10250													
SHH	gene	SHH	Expert Review Red	Unexplained young onset end-stage renal disease - additional genes		Renal	Unknown							False	1	0;33;67	1.6	False		ENSG00000164690	ENSG00000164690	HGNC:10848													
SIX1	gene	SIX1	Expert Review Red	Unexplained young onset end-stage renal disease - additional genes		Renal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Branchiootic syndrome 3, OMIM:608389;Deafness, autosomal dominant 23, OMIM:605192						False	1	33;33;33	1.6	False		ENSG00000126778	ENSG00000126778	HGNC:10887													
SIX5	gene	SIX5	Expert Review Red;NHS GMS	Unexplained young onset end-stage renal disease - additional genes		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Branchiootorenal syndrome 2, OMIM:610896						False	1	40;20;40	1.6	False		ENSG00000177045	ENSG00000177045	HGNC:10891													
SLIT2	gene	SLIT2	Expert Review Red	Unexplained young onset end-stage renal disease - additional genes		Renal	Unknown							False	1	0;33;67	1.6	False		ENSG00000145147	ENSG00000145147	HGNC:11086													
SMARCA4	gene	SMARCA4	Expert Review Red	Unexplained young onset end-stage renal disease - additional genes		Renal	Unknown							False	1	0;33;67	1.6	False		ENSG00000127616	ENSG00000127616	HGNC:11100													
SOX17	gene	SOX17	Expert Review Red	Unexplained young onset end-stage renal disease - additional genes		Renal	Unknown	Vesicoureteral reflux 3, OMIM:613674						False	1	0;33;67	1.6	False		ENSG00000164736	ENSG00000164736	HGNC:18122													
SPRY1	gene	SPRY1	Expert Review Red	Unexplained young onset end-stage renal disease - additional genes		Renal	Unknown							False	1	0;33;67	1.6	False		ENSG00000164056	ENSG00000164056	HGNC:11269													
TNXB	gene	TNXB	Expert Review Red	Unexplained young onset end-stage renal disease - additional genes		Renal	Unknown							False	1	0;33;67	1.6	False		ENSG00000168477	ENSG00000168477	HGNC:11976													
TSHZ3	gene	TSHZ3	Expert Review Red	Unexplained young onset end-stage renal disease - additional genes		Renal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown							False	1	0;25;75	1.6	False		ENSG00000121297	ENSG00000121297	HGNC:30700													
UPK2	gene	UPK2	Expert Review Red	Unexplained young onset end-stage renal disease - additional genes		Renal	Other							False	1	0;25;75	1.6	False		ENSG00000110375	ENSG00000110375	HGNC:12579													
UPK3A	gene	UPK3A	Expert Review Red	Unexplained young onset end-stage renal disease - additional genes		Renal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Renal Adysplasia						False	1	0;25;75	1.6	False		ENSG00000100373	ENSG00000100373	HGNC:12580