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
ARID3A	gene	ARID3A	Expert Review Amber;Literature	Congenital anomalies of the kidney and urinary tract (CAKUT)		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital anomaly of kidney and urinary tract, MONDO:0019719, ARID3A-related				40774958		False	2	0;100;0	0.207	False		ENSG00000116017	ENSG00000116017	HGNC:3031													
BCORL1	gene	BCORL1	Expert Review;Expert Review Amber	Congenital anomalies of the kidney and urinary tract (CAKUT)		Renal and urinary tract disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Congenital anomaly of the kidney and urinary tract, MONDO:0019719, BCORL1-related						False	2	0;100;0	0.207	False		ENSG00000085185	ENSG00000085185	HGNC:25657													
BICC1	gene	BICC1	Expert Review Amber;Victorian Clinical Genetics Services	Congenital anomalies of the kidney and urinary tract (CAKUT)		Renal and urinary tract disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Multicystic dysplastic kidney, MONDO:0015988;polycystic kidney disease, MONDO:0020642				21922595, 35005812, 39253489, 39655693, 41278337		False	2	0;50;50	0.207	False		ENSG00000122870	ENSG00000122870	HGNC:19351													
COQ7	gene	COQ7	Expert list;Expert Review Amber;Expert Review Green	Congenital anomalies of the kidney and urinary tract (CAKUT)		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Coenzyme Q10 deficiency, primary, 8, MIM#616733				31240163;28409910;26084283		False	2	67;0;33	0.207	True		ENSG00000167186	ENSG00000167186	HGNC:2244													
DACT1	gene	DACT1	Expert list;Expert Review Amber;NHS GMS	Congenital anomalies of the kidney and urinary tract (CAKUT)		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Townes-Brocks syndrome 2, MIM#617466				28054444		False	2	0;67;33	0.207	True		ENSG00000165617	ENSG00000165617	HGNC:17748													
DMRT2	gene	DMRT2	Expert Review Amber;Literature	Congenital anomalies of the kidney and urinary tract (CAKUT)		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523				PMID: 41014130;29681102;16387292		False	2	0;100;0	0.207	True		ENSG00000173253	ENSG00000173253	HGNC:2935													
DSTYK	gene	DSTYK	Expert Review Amber;Victorian Clinical Genetics Services	Congenital anomalies of the kidney and urinary tract (CAKUT)		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital anomalies of kidney and urinary tract 1, MIM# 610805				23862974;37746849;34608560;28618409		False	2	33;33;33	0.207	False		ENSG00000133059	ENSG00000133059	HGNC:29043													
FGF20	gene	FGF20	Expert list;Expert Review Amber	Congenital anomalies of the kidney and urinary tract (CAKUT)		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Renal hypodysplasia/aplasia 2, MIM#615721				22698282		False	2	0;100;0	0.207	False		ENSG00000078579	ENSG00000078579	HGNC:3677													
FOXC1	gene	FOXC1	Expert Review Amber;Victorian Clinical Genetics Services	Congenital anomalies of the kidney and urinary tract (CAKUT)		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital anomalies of the kidney and urinary tract (CAKUT)				32475988		False	2	0;100;0	0.207	True		ENSG00000054598	ENSG00000054598	HGNC:3800													
NFXL1	gene	NFXL1	Expert Review Amber;Literature	Congenital anomalies of the kidney and urinary tract (CAKUT)		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Syndromic disease (MONDO:0002254), NFXL1-related				40430072;41024252		False	2	0;100;0	0.207	True		ENSG00000170448	ENSG00000170448	HGNC:18726													
NRIP1	gene	NRIP1	Expert Review Amber;Literature	Congenital anomalies of the kidney and urinary tract (CAKUT)		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	congenital anomalies of kidney and urinary tract 3 MONDO:0032646				28381549;34525250		False	2	0;100;0	0.207	False		ENSG00000180530	ENSG00000180530	HGNC:8001													
PTCH1	gene	PTCH1	Expert Review Amber;Other	Congenital anomalies of the kidney and urinary tract (CAKUT)		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Exstrophy-epispadias complex MONDO:0017919, PTCH1-related						False	2	0;100;0	0.207	False		ENSG00000185920	ENSG00000185920	HGNC:9585													
SLIT2	gene	SLIT2	Expert Review Amber;Victorian Clinical Genetics Services	Congenital anomalies of the kidney and urinary tract (CAKUT)		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	CAKUT MONDO:0019719, SLIT2-related				26026792;15130495		False	2	0;100;0	0.207	False		ENSG00000145147	ENSG00000145147	HGNC:11086													
SOX11	gene	SOX11	Expert list;Expert Review Amber	Congenital anomalies of the kidney and urinary tract (CAKUT)		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital abnormalities of the kidneys and urinary tract				29459093;24886874		False	2	0;100;0	0.207	False		ENSG00000176887	ENSG00000176887	HGNC:11191													
SRGAP1	gene	SRGAP1	Expert Review Amber;Victorian Clinical Genetics Services	Congenital anomalies of the kidney and urinary tract (CAKUT)		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	CAKUT, MONDO:0019719, SRGAP1-related				26026792		False	2	0;100;0	0.207	False		ENSG00000196935	ENSG00000196935	HGNC:17382													
TSHZ3	gene	TSHZ3	Expert Review Amber;Literature	Congenital anomalies of the kidney and urinary tract (CAKUT)		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	congenital anomaly of kidney and urinary tract MONDO:0019719				27668656;34919690;36553458;39420202		False	2	0;100;0	0.207	True		ENSG00000121297	ENSG00000121297	HGNC:30700													
WNT4	gene	WNT4	Expert Review Amber;Victorian Clinical Genetics Services	Congenital anomalies of the kidney and urinary tract (CAKUT)		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	SERKAL syndrome;OMIM #611812				18179883		False	2	0;50;50	0.207	True		ENSG00000162552	ENSG00000162552	HGNC:12783													
WNT9B	gene	WNT9B	Expert Review Amber;Literature;Victorian Clinical Genetics Services	Congenital anomalies of the kidney and urinary tract (CAKUT)		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Renal agenesis/hypoplasia/dysplasia, no OMIM #				PMID: 34145744		False	2	0;100;0	0.207	False		ENSG00000158955	ENSG00000158955	HGNC:12779