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
BCORL1	gene	BCORL1	Expert Review Amber;Expert Review	Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel		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	1.95	True		ENSG00000085185	ENSG00000085185	HGNC:25657													
COQ7	gene	COQ7	Expert Review Green;Expert Review Amber;Expert list	Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Coenzyme Q10 deficiency, primary, 8, MIM#616733				31240163;28409910;26084283		False	2	67;0;33	1.95	True		ENSG00000167186	ENSG00000167186	HGNC:2244													
DACT1	gene	DACT1	Expert Review Amber;NHS GMS;Expert list	Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Townes-Brocks syndrome 2, MIM#617466				28054444		False	2	0;67;33	1.95	True		ENSG00000165617	ENSG00000165617	HGNC:17748													
FGF20	gene	FGF20	Expert Review Amber;Expert list	Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Renal hypodysplasia/aplasia 2, MIM#615721				22698282		False	2	0;100;0	1.95	True		ENSG00000078579	ENSG00000078579	HGNC:3677													
FOXC1	gene	FOXC1	Expert Review Green;Expert Review Amber;Literature;Victorian Clinical Genetics Services	Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital anomalies of the kidney and urinary tract (CAKUT)				PMID: 32475988		False	2	50;50;0	1.95	False		ENSG00000054598	ENSG00000054598	HGNC:3800													
FOXC1	gene	FOXC1	Expert Review Amber;Victorian Clinical Genetics Services	Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel		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	1.95	True		ENSG00000054598	ENSG00000054598	HGNC:3800													
PTCH1	gene	PTCH1	Expert Review Amber;Other	Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Bladder exstrophy and epispadias complex (BEEC)						False	2	0;100;0	1.95	False		ENSG00000185920	ENSG00000185920	HGNC:9585													
SIX5	gene	SIX5	Expert Review Amber;Victorian Clinical Genetics Services	Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Branchiootorenal syndrome 2, MIM# 610896				17357085;33624842;20301554;24730701;22447252;21280147;14704431;11950062;10802667;10802668		False	2	0;100;0	1.95	True		ENSG00000177045	ENSG00000177045	HGNC:10891													
SLIT2	gene	SLIT2	Expert Review Amber;Victorian Clinical Genetics Services	Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	CAKUT				26026792;15130495		False	2	0;100;0	1.95	True		ENSG00000145147	ENSG00000145147	HGNC:11086													
SOX11	gene	SOX11	Expert Review Amber;Expert list	Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel		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	1.95	True		ENSG00000176887	ENSG00000176887	HGNC:11191													
SRGAP1	gene	SRGAP1	Expert Review Amber;Victorian Clinical Genetics Services	Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	CAKUT				26026792		False	2	0;100;0	1.95	True		ENSG00000196935	ENSG00000196935	HGNC:17382													
TSHZ3	gene	TSHZ3	Expert Review Amber;Literature	Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel		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	1.95	True		ENSG00000121297	ENSG00000121297	HGNC:30700													
WNT9B	gene	WNT9B	Expert Review Amber;Expert Review Amber;Literature;Victorian Clinical Genetics Services	Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Renal agenesis/hypoplasia/dysplasia, no OMIM #				PMID: 34145744		False	2	0;100;0	1.95	True		ENSG00000158955	ENSG00000158955	HGNC:12779