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
ACE	gene	ACE	Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Renal tubular dysgenesis, OMIM:267430						False	3	75;25;0	12.104	False		ENSG00000159640	ENSG00000159640	HGNC:2707													
ACTG2	gene	ACTG2	Expert Review Green	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, OMIM:619431;Visceral myopathy 1, OMIM:155310;Berdon syndrome				25998219		False	3	67;33;0	12.104	False		ENSG00000163017	ENSG00000163017	HGNC:145													
ACTN4	gene	ACTN4	NHS GMS;Expert Review Green;Eligibility statement prior genetic testing	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Glomerulosclerosis, focal segmental, 1 603278				10700177;26301083;16251236;29043128		False	3	100;0;0	12.104	True	Other - please provide details in the comments	ENSG00000130402	ENSG00000130402	HGNC:166													
AGT	gene	AGT	Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Renal tubular dysgenesis, OMIM:267430						False	3	75;25;0	12.104	False		ENSG00000135744	ENSG00000135744	HGNC:333													
AGTR1	gene	AGTR1	Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Renal tubular dysgenesis, OMIM:267430						False	3	75;25;0	12.104	False		ENSG00000144891	ENSG00000144891	HGNC:336													
AGXT	gene	AGXT	Expert Review Green;Eligibility statement prior genetic testing;Expert;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;UKGTN;Emory Genetics Laboratory	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Primary Hyperoxaluria Type 1;Primary Hyperoxaluria;Hyperoxaluria, primary, type 1, 259900;Hyperoxaluria;primary hyperoxaluria						False	3	100;0;0	12.104	True		ENSG00000172482	ENSG00000172482	HGNC:341													
AHI1	gene	AHI1	Eligibility statement prior genetic testing;Expert list;Expert Review Green;Other	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 3;Joubert syndrome;Joubert syndrome-3.						False	3	100;0;0	12.104	False		ENSG00000135541	ENSG00000135541	HGNC:21575													
ALG5	gene	ALG5	NHS GMS;Expert Review Green;Literature	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Polycystic kidney disease 7, OMIM:620056				35896117		False	3	100;0;0	12.104	False		ENSG00000120697	ENSG00000120697	HGNC:20266													
ALG8	gene	ALG8	Expert Review Green;Expert Review	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	cystic liver disease;cystic kidney disease;Polycystic liver disease 3 with or without kidney cysts, 617874				30135240;28375157;15235028		False	3	100;0;0	12.104	False		ENSG00000159063	ENSG00000159063	HGNC:23161													
ALG9	gene	ALG9	Expert Review Green;Expert Review	Unexplained young onset end-stage renal disease		Renal	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	cystic liver disease;cystic kidney disease;Gillessen-Kaesbach-Nishimura syndrome, 263210				31395617;28932688		False	3	100;0;0	12.104	False		ENSG00000086848	ENSG00000086848	HGNC:15672													
ALMS1	gene	ALMS1	Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Eligibility statement prior genetic testing;UKGTN;Expert list	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl Syndrome;Alstrom syndrome, OMIM:203800				22773737		False	3	0;0;100	12.104	False		ENSG00000116127	ENSG00000116127	HGNC:428													
AMN	gene	AMN	Expert Review Green;NHS GMS;Expert;Radboud University Medical Center, Nijmegen	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Megaloblastic anemia-1, Norwegian type, OMIM:261100				12590260;26040326		False	3	33;33;33	12.104	True		ENSG00000166126	ENSG00000166126	HGNC:14604													
ANKS6	gene	ANKS6	NHS GMS;Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis 16, OMIM:615382;nephronophthisis 16, MONDO:0014158				2379302		False	3	100;0;0	12.104	False		ENSG00000165138	ENSG00000165138	HGNC:26724													
ANKS6	gene	ANKS6	Expert Review Green;Expert	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Ciliopathy genes associated with cystic kidney disease;Nephronophthisis 16, OMIM:615382				34740236		False	3	100;0;0	12.104	True		ENSG00000165138	ENSG00000165138	HGNC:26724													
ANKS6	gene	ANKS6	Orphanet;Expert Review Green;Expert list;Radboud University Medical Center, Nijmegen;UKGTN	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel;Nephronophthisis 16, OMIM:615382				23793029;34740236		False	3	100;0;0	12.104	False		ENSG00000165138	ENSG00000165138	HGNC:26724													
ANOS1	gene	ANOS1	Expert Review Green	Unexplained young onset end-stage renal disease		Renal	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), OMIM:308700				9719154;11531922		False	3	60;20;20	12.104	False		ENSG00000011201	ENSG00000011201	HGNC:6211													
AP2S1	gene	AP2S1	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Familial hypocalciuric hypercalcemia type III 600740				23222959		False	3	100;0;0	12.104	False		ENSG00000042753	ENSG00000042753	HGNC:565													
APOA1	gene	APOA1	NHS GMS;Expert Review Green	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Amyloidosis, 3 or more types OMIM:105200;familial visceral amyloidosis MONDO:0007099				27240838;21820994;16925563;32022753		False	3	100;0;0	12.104	False		ENSG00000118137	ENSG00000118137	HGNC:600													
APOA2	gene	APOA2	NHS GMS;Expert Review Green	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted					29270531;11703582;12787390;11401442		False	3	100;0;0	12.104	False		ENSG00000158874	ENSG00000158874	HGNC:601													
APOC2	gene	APOC2	NHS GMS;Expert Review Green	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted					30197986;27297947		False	3	100;0;0	12.104	False		ENSG00000234906	ENSG00000234906	HGNC:609													
APOE	gene	APOE	Expert Review Green;Literature	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Lipoprotein glomerulopathy, OMIM:611771				10432380;9176854;18077821;31092271		False	3	100;0;0	12.104	False		ENSG00000130203	ENSG00000130203	HGNC:613													
APRT	gene	APRT	Expert Review Green;Expert	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	"Adenine phosphoribosyltransferase deficiency	614723"						False	3	0;0;0	12.104	False		ENSG00000198931	ENSG00000198931	HGNC:626													
AQP2	gene	AQP2	NHS GMS;Expert Review Green;Other	Unexplained young onset end-stage renal disease		Renal	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Diabetes insipidus, nephrogenic, 125800;Nephrogenic diabetes insipidus				8140421;7524315;9048343;9649557;9302264;9745427;11929850;12050236;15509592		False	3	100;0;0	12.104	False		ENSG00000167580	ENSG00000167580	HGNC:634													
ARHGDIA	gene	ARHGDIA	NHS GMS;Expert Review Green;Eligibility statement prior genetic testing	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Nephrotic syndrome, type 8 #615224				23434736;23867502;30295827		False	3	0;100;0	12.104	True		ENSG00000141522	ENSG00000141522	HGNC:678													
ARL13B	gene	ARL13B	Expert Review Green;Expert list;Other	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 8				18674751;25138100		False	3	100;0;0	12.104	False		ENSG00000169379	ENSG00000169379	HGNC:25419													
ARL6	gene	ARL6	Eligibility statement prior genetic testing;Expert list;Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	{Bardet Biedl syndrome 1, modifier of};Bardet-Biedl Syndrome;268000;Bardet Biedl syndrome 3				15258860;21282186		False	3	100;0;0	12.104	False		ENSG00000113966	ENSG00000113966	HGNC:13210													
ARMC9	gene	ARMC9	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 30, OMIM:617622				28625504		False	3	67;33;0	12.104	False		ENSG00000135931	ENSG00000135931	HGNC:20730													
ATP1A1	gene	ATP1A1	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hypomagnesemia, seizures, and mental retardation 2 618314;Charcot-Marie-Tooth disease, axonal, type 2DD, 618036				30388404		False	3	100;0;0	12.104	False		ENSG00000163399	ENSG00000163399	HGNC:799													
ATP6V0A4	gene	ATP6V0A4	NHS GMS;Expert Review Green;Eligibility statement prior genetic testing;Expert	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Distal renal tubular acidosis 3, with or without sensorineural hearing loss, OMIM:602722				27274828;32123165;23729491;25572248;26208211;26571219;27247958;28233610;29202719;29725771;30230413;30256676;31348261;31929293;32613277;33881640;34159584		False	3	100;0;0	12.104	True		ENSG00000105929	ENSG00000105929	HGNC:866													
ATP6V0A4	gene	ATP6V0A4	NHS GMS;Expert Review Green;Eligibility statement prior genetic testing;Expert;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;UKGTN	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Distal renal tubular acidosis 3, with or without sensorineural hearing loss, OMIM:602722				27274828;32123165;23729491;25572248;26208211;26571219;27247958;28233610;29202719;29725771;30230413;30256676;31348261;31929293;32613277;33881640;34159584		False	3	100;0;0	12.104	True		ENSG00000105929	ENSG00000105929	HGNC:866													
ATP6V1B1	gene	ATP6V1B1	NHS GMS;Expert Review Green;Eligibility statement prior genetic testing;Expert;UKGTN;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Unexplained young onset end-stage renal disease		Renal	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Renal tubular acidosis with deafness, 267300;Distal Renal Tubular Acidosis with Progressive Nerve Deafness;Distal renal tubular acidosis						False	3	100;0;0	12.104	True		ENSG00000116039	ENSG00000116039	HGNC:853													
ATP6V1B1	gene	ATP6V1B1	NHS GMS;Expert Review Green;Eligibility statement prior genetic testing;Expert	Unexplained young onset end-stage renal disease		Renal	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, OMIM:267300;renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss, MONDO:0009968				39837581;9916796;12566520;18798332		False	3	100;0;0	12.104	True		ENSG00000116039	ENSG00000116039	HGNC:853													
AVPR2	gene	AVPR2	NHS GMS;Expert Review Green;Other	Unexplained young onset end-stage renal disease		Renal	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Diabetes insipidus, nephrogenic, OMIM:304800;Nephrogenic syndrome of inappropriate antidiuresis, OMIM:300539				18726898;27565746;27117808;26974133;26828532		False	3	100;0;0	12.104	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000126895	ENSG00000126895	HGNC:897													
B9D2	gene	B9D2	Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Emory Genetics Laboratory	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 34, OMIM:614175;Meckel syndrome 10, OMIM:614175;Meckel syndrome, type 10, MONDO:0013609				26092869;21763481;31411728		False	3	0;0;100	12.104	False		ENSG00000123810	ENSG00000123810	HGNC:28636													
BBS1	gene	BBS1	Eligibility statement prior genetic testing;Expert list;Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 1 OMIM:209900;Bardet-Biedl syndrome 1 MONDO:0008854				23143442;12118255		False	3	100;0;0	12.104	False		ENSG00000174483	ENSG00000174483	HGNC:966													
BBS10	gene	BBS10	Eligibility statement prior genetic testing;Expert list;Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Bardet Biedl syndrome 10				16582908		False	3	100;0;0	12.104	False		ENSG00000179941	ENSG00000179941	HGNC:26291													
BBS12	gene	BBS12	Eligibility statement prior genetic testing;Expert list;Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Bardet Biedl syndrome 12				17160889		False	3	100;0;0	12.104	False		ENSG00000181004	ENSG00000181004	HGNC:26648													
BBS2	gene	BBS2	Eligibility statement prior genetic testing;Expert list;Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Bardet Biedl syndrome 2				11285252		False	3	100;0;0	12.104	False		ENSG00000125124	ENSG00000125124	HGNC:967													
BBS4	gene	BBS4	Eligibility statement prior genetic testing;Expert list;Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Bardet Biedl syndrome 4				11381270;22353939		False	3	100;0;0	12.104	False		ENSG00000140463	ENSG00000140463	HGNC:969													
BBS5	gene	BBS5	Eligibility statement prior genetic testing;Expert list;Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Bardet Biedl syndrome 5				15137946		False	3	100;0;0	12.104	False		ENSG00000163093	ENSG00000163093	HGNC:970													
BBS7	gene	BBS7	Eligibility statement prior genetic testing;Expert list;Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Bardet Biedl syndrome 7				12567324		False	3	100;0;0	12.104	False		ENSG00000138686	ENSG00000138686	HGNC:18758													
BBS9	gene	BBS9	Eligibility statement prior genetic testing;Expert list;Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Bardet Biedl syndrome 9				16380913		False	3	100;0;0	12.104	False		ENSG00000122507	ENSG00000122507	HGNC:30000													
BNC2	gene	BNC2	Other;Expert Review Green	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Lower urinary tract obstruction, congenital, OMIM:618612				31051115		False	3	50;25;25	12.104	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000173068	ENSG00000173068	HGNC:30988													
BSND	gene	BSND	NHS GMS;Expert Review Green;Eligibility statement prior genetic testing	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Hypokalaemic alkalosis with hypercalciuria;Bartter syndrome type 4a;Sensorineural deafness with mild renal dysfunction MIM 602522				11687798		False	3	100;0;0	12.104	True		ENSG00000162399	ENSG00000162399	HGNC:16512													
BSND	gene	BSND	Expert Review Green;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Bartter Syndrome;Bartter syndrome, type 4a, 602522;Sensorineural deafness with mild renal dysfunction, 602522						False	3	100;0;0	12.104	True		ENSG00000162399	ENSG00000162399	HGNC:16512													
C3	gene	C3	NHS GMS;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hemolytic uremic syndrome, atypical, susceptibility to, 5, OMIM:612925				18796626		False	3	67;33;0	12.104	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000125730	ENSG00000125730	HGNC:1318													
C3	gene	C3	Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	C3 deficiency, OMIM:613779;{Hemolytic uremic syndrome, atypical, susceptibility to, 5}, OMIM:612925				15781264;18796626		False	3	50;50;0	12.104	False		ENSG00000125730	ENSG00000125730	HGNC:1318													
C3	gene	C3	Expert Review Green;NHS GMS;Expert list	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hemolytic uremic syndrome, atypical, susceptibility to, 5, OMIM:612925;C3 glomerulopathy;C3G				24172683;20852386;18796626;21902819;26471127		False	3	50;25;25	12.104	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000125730	ENSG00000125730	HGNC:1318													
C5orf42	gene	C5orf42	Expert Review Green;Expert list;Other	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome;Oral-facial-digital syndrome type VI;Joubert syndrome 17				22693042;25920555;22425360		False	3	100;0;0	12.104	False		ENSG00000197603	ENSG00000197603	HGNC:25801													
CA2	gene	CA2	NHS GMS;Expert Review Green;Expert;UKGTN;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730;Osteopetrosis with Renal Tubular Acidosis				1301935		False	3	100;0;0	12.104	True		ENSG00000104267	ENSG00000104267	HGNC:1373													
CA2	gene	CA2	Expert Review Green;Expert	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Osteopetrosis, autosomal recessive 3, with renal tubular acidosis						False	3	100;0;0	12.104	True		ENSG00000104267	ENSG00000104267	HGNC:1373													
CASR	gene	CASR	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Hypocalcemia, autosomal dominant, (with Bartter syndrome), 601198;Hypocalciuric hypercalcemia, type I, 145980;Hyperparathyroidism, neonatal, 239200				7916660;7673400;7726161;8675635;17698911;7874174;7808841;8733126;12191970;15005845;17048213		False	3	100;0;0	12.104	False		ENSG00000036828	ENSG00000036828	HGNC:1514													
CASR	gene	CASR	Expert Review Green;Eligibility statement prior genetic testing;Expert;Radboud University Medical Center, Nijmegen;UKGTN;Illumina TruGenome Clinical Sequencing Services	Unexplained young onset end-stage renal disease		Renal	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Familial Hypocalciuric Hypercalcemia;Hypocalciuric hypercalcemia, type I, 145980Hyperparathyroidism, neonatal, 239200Hypocalcemia, autosomal dominant, 601198Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198{Epilepsy idiopathic generalized, susceptibility to,;Hypocalcemia (dominant); Familial Hypocalciuric Hypercalcemia (dominant);hypocalciuric hypercalcaemia						False	3	100;0;0	12.104	False	Other	ENSG00000036828	ENSG00000036828	HGNC:1514													
CC2D2A	gene	CC2D2A	Orphanet;Eligibility statement prior genetic testing;Expert list;Expert Review Green;Other	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 9;COACH syndrome;Joubert syndrome with oculorenal defect;Meckel syndrome 6;Meckel syndrome						False	3	100;0;0	12.104	False		ENSG00000048342	ENSG00000048342	HGNC:29253													
CD151	gene	CD151	Expert Review Green;NHS GMS;Eligibility statement prior genetic testing	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Nephropathy with pretibial epidermolysis bullosa and deafness, OMIM:609057;nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome, MONDO:0012190				15265795;17015618;29138120;32641585;22338088;18787104;22201679		False	3	50;25;25	12.104	True		ENSG00000177697	ENSG00000177697	HGNC:1630													
CD2AP	gene	CD2AP	Expert Review Green;NHS GMS;Eligibility statement prior genetic testing	Unexplained young onset end-stage renal disease		Renal	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Glomerulosclerosis, focal segmental, 3, OMIM:607832;focal segmental glomerulosclerosis 3, susceptibility to, MONDO:0011917				10514378;12764198;17713465;19131354;25501161;26997877;30348286;30612599;34408996;36964972		False	3	25;75;0	12.104	True		ENSG00000198087	ENSG00000198087	HGNC:14258													
CD46	gene	CD46	NHS GMS;Expert Review Green;UKGTN;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Eligibility statement prior genetic testing	Unexplained young onset end-stage renal disease		Renal	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Hemolytic uremic syndrome, atypical, susceptibility to, 2 612922				14615110;14566051;16621965		False	3	67;33;0	12.104	False		ENSG00000117335	ENSG00000117335	HGNC:6953													
CENPF	gene	CENPF	Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Stromme syndrome, OMIM:243605;Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome				26820108		False	3	33;0;67	12.104	False		ENSG00000117724	ENSG00000117724	HGNC:1857													
CEP104	gene	CEP104	Expert Review Green;Radboud University Medical Center, Nijmegen;Other	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 25, 616781;Joubert syndrome 25				26477546		False	3	100;0;0	12.104	False		ENSG00000116198	ENSG00000116198	HGNC:24866													
CEP164	gene	CEP164	Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Emory Genetics Laboratory	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	ciliopathies;Nephronophthisis 15;Senior-Loken syndrome;Nephronophthisis 15, 614845						False	3	0;0;0	12.104	False		ENSG00000110274	ENSG00000110274	HGNC:29182													
CEP164	gene	CEP164	Expert Review Green;Expert	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Ciliopathy genes associated with cystic kidney disease						False	3	100;0;0	12.104	True		ENSG00000110274	ENSG00000110274	HGNC:29182													
CEP164	gene	CEP164	NHS GMS;Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis 15, OMIM:614845;nephronophthisis 15, MONDO:0013917						False	3	100;0;0	12.104	False		ENSG00000110274	ENSG00000110274	HGNC:29182													
CEP290	gene	CEP290	Orphanet;Eligibility statement prior genetic testing;Expert list;Expert Review Green;Other	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	610189;Meckel syndrome 4;Senior-Loken syndrome;611755;Joubert syndrome 5;Joubert syndrome with oculorenal defect;610188;Senior-Loken syndrome 6;611134;Meckel syndrome				20690115;18327255		False	3	50;0;50	12.104	False		ENSG00000198707	ENSG00000198707	HGNC:29021													
CEP41	gene	CEP41	Expert Review Green;Expert list;Other	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 15				22246503		False	3	100;0;0	12.104	False		ENSG00000106477	ENSG00000106477	HGNC:12370													
CEP83	gene	CEP83	Orphanet;Expert Review Green;Expert list;Radboud University Medical Center, Nijmegen;UKGTN	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis 18 615862				24882706		False	3	100;0;0	12.104	False		ENSG00000173588	ENSG00000173588	HGNC:17966													
CEP83	gene	CEP83	Expert Review Green;Expert list	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	NEPHRONOPHTHISIS 18				24882706		False	3	100;0;0	12.104	False		ENSG00000173588	ENSG00000173588	HGNC:17966													
CEP83	gene	CEP83	NHS GMS;Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis 18, OMIM:615862;nephronophthisis 18, MONDO:0014374						False	3	100;0;0	12.104	False		ENSG00000173588	ENSG00000173588	HGNC:17966													
CFAP47	gene	CFAP47	Expert Review Green;NHS GMS;Literature	Unexplained young onset end-stage renal disease		Renal	X-LINKED: hemizygous mutation in males, biallelic mutations in females	polycystic kidney disease, MONDO:0020642				39698362		False	3	100;0;0	12.104	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000165164	ENSG00000165164	HGNC:26708													
CFB	gene	CFB	NHS GMS;Expert Review Green;Illumina TruGenome Clinical Sequencing Services	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hemolytic uremic syndrome, atypical, susceptibility to, 4 612924				17182750;26826462;19584399;23307876		False	3	67;33;0	12.104	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000243649	ENSG00000243649	HGNC:1037													
CFB	gene	CFB	Expert Review Green;NHS GMS;Expert list	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Haemolytic uraemic syndrome;aHUS;Hemolytic uremic syndrome, atypical, susceptibility to, 4, 612924;C3 glomerulopathy;C3G;Immune complex MPGN;IC-MPGN;MPGN;Membranoproliferative glomerulonephritis				25758434;17182750;21902819;26283675		False	3	20;40;40	12.104	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000243649	ENSG00000243649	HGNC:1037													
CFH	gene	CFH	NHS GMS;Expert Review Green;UKGTN;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Eligibility statement prior genetic testing	Unexplained young onset end-stage renal disease		Renal	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Hemolytic uremic syndrome, atypical, susceptibility to, 1 235400				26826462		False	3	67;33;0	12.104	False		ENSG00000000971	ENSG00000000971	HGNC:4883													
CFH	gene	CFH	NHS GMS;Expert Review Green;Expert list	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	C3 glomerulopathy;C3G; Immune complex MPGN;IC-MPGN;Hemolytic uremic syndrome, atypical, susceptibility to, 1, 235400; Dense Deposit Disease; Membranoproliferative Glomerulonephritis Type II;Immune-complex-mediated MPGN				24172683;16612335;24722444;27458560;9312129		False	3	75;25;0	12.104	False		ENSG00000000971	ENSG00000000971	HGNC:4883													
CFHR1	gene	CFHR1	Expert Review Green;Expert list	Unexplained young onset end-stage renal disease		Renal	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	C3 glomerulopathy;C3G; Immune complex MPGN;IC-MPGN; Hemolytic uremic syndrome, atypical, susceptibility to, 235400;Immune-complex-mediated MPGN				24172683;23728178;24334459;20800271;27458560		False	3	100;0;0	12.104	False		ENSG00000244414	ENSG00000244414	HGNC:4888													
CFHR1	gene	CFHR1	NHS GMS;Expert Review Green;UKGTN	Unexplained young onset end-stage renal disease		Renal	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	"Hemolytic uremic syndrome, atypical, susceptibility to	235400"				16998489; 17367211		False	3	50;50;0	12.104	False		ENSG00000244414	ENSG00000244414	HGNC:4888													
CFHR2	gene	CFHR2	Expert Review Green;Expert list	Unexplained young onset end-stage renal disease		Renal	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	C3 glomerulopathy;C3G; Immune complex MPGN;IC-MPGN;Immune-complex-mediated MPGN				24172683;24334459;23728178;20800271; 22456601;27458560		False	3	100;0;0	12.104	False		ENSG00000080910	ENSG00000080910	HGNC:4890													
CFHR3	gene	CFHR3	Expert Review Green;Literature;UKGTN	Unexplained young onset end-stage renal disease		Renal	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	"Hemolytic uremic syndrome, atypical, susceptibility to	235400"				16998489; 17367211		False	3	100;0;0	12.104	False		ENSG00000116785	ENSG00000116785	HGNC:16980													
CFHR5	gene	CFHR5	Expert Review Green;NHS GMS;Expert list	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	C3 glomerulopathy;C3G;Immune complex MPGN;IC-MPGN;Nephropathy due to CFHR5 deficiency, OMIM:614809;Immune-complex-mediated MPGN;CFHR5 nephropathy;Haematuria;Chronic Kidney Disease;Proteinuria;End stage renal disease				24172683;20800271;24067434;23728178;27458560;21566112;32928961;22503529;30844074;28729035;27490940;28729035;27490940;33753502;30197990		False	3	100;0;0	12.104	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000134389	ENSG00000134389	HGNC:24668													
CFI	gene	CFI	Expert Review Green;NHS GMS;Expert list	Unexplained young onset end-stage renal disease		Renal	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	C3 glomerulopathy; C3G; Immune complex MPGN; IC-MPGN; Immune-complex-mediated MPGN;Hemolytic uremic syndrome, atypical, susceptibility to, 3,612923				24172683;18371543;22456601;27458560		False	3	50;0;50	12.104	False		ENSG00000205403	ENSG00000205403	HGNC:5394													
CFI	gene	CFI	NHS GMS;Expert Review Green;UKGTN;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Eligibility statement prior genetic testing	Unexplained young onset end-stage renal disease		Renal	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Hemolytic uremic syndrome, atypical, susceptibility to, 3, OMIM:612923;Complement factor I deficiency, OMIM:610984				16621965;17597211;15173250;23685748;17018561;10352206		False	3	67;33;0	12.104	False		ENSG00000205403	ENSG00000205403	HGNC:5394													
CHD7	gene	CHD7	Expert Review Green	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	CHARGE syndrome, OMIM:214800						False	3	67;33;0	12.104	False		ENSG00000171316	ENSG00000171316	HGNC:20626													
CHRM3	gene	CHRM3	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Prune belly syndrome, OMIM:100100;Megacystis;Urinary Bladder Disease				10944224;22077972;31441039		False	3	60;20;20	12.104	False		ENSG00000133019	ENSG00000133019	HGNC:1952													
CLCN5	gene	CLCN5	Expert Review Green;NHS GMS;Literature	Unexplained young onset end-stage renal disease		Renal	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Dent disease 1, OMIM:300009;Hypophosphatemic rickets, OMIM:300554;Nephrolithiasis, type I, OMIM:310468;Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, OMIM:308990				7922301;8559248;9259268;9187673;9602200;14569459;16041495;16247550;19673950;37641036		False	3	100;0;0	12.104	False		ENSG00000171365	ENSG00000171365	HGNC:2023													
CLCN5	gene	CLCN5	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Dent disease 1, OMIM:300009						False	3	100;0;0	12.104	False		ENSG00000171365	ENSG00000171365	HGNC:2023													
CLCN5	gene	CLCN5	Expert Review Green;Expert;UKGTN;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services	Unexplained young onset end-stage renal disease		Renal	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Dent Disease;Dent disease, 300009;Nephrolithiasis, type I, 310468Hypophosphatemic rickets, 300554;Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990;Nephrocalcinosis with low molecular weight proteinuria and pregressive CKD						False	3	100;0;0	12.104	True		ENSG00000171365	ENSG00000171365	HGNC:2023													
CLCN5	gene	CLCN5	NHS GMS;Expert Review Green;Radboud University Medical Center, Nijmegen	Unexplained young onset end-stage renal disease		Renal	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Dent disease, 300009; Nephrolithiasis, type I, 310468; Hypophosphatemic rickets, 300554; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990				27757584;25907713;23886564		False	3	50;50;0	12.104	True		ENSG00000171365	ENSG00000171365	HGNC:2023													
CLCNKB	gene	CLCNKB	NHS GMS;Expert Review Green;Expert;Radboud University Medical Center, Nijmegen;UKGTN	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Bartter syndrome, type 3, OMIM:607364;Bartter disease type 3, MONDO:0011822;Bartter syndrome, type 4b, digenic, OMIM:613090;Bartter disease type 4B, MONDO:0000909				28018459;23550235		False	3	100;0;0	12.104	True		ENSG00000184908	ENSG00000184908	HGNC:2027													
CLCNKB	gene	CLCNKB	NHS GMS;Expert Review Green;Eligibility statement prior genetic testing	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Bartter syndrome, type 3, OMIM:607364;Bartter disease type 3, MONDO:0011822;Bartter syndrome, type 4b, digenic, OMIM:613090;Bartter disease type 4B, MONDO:0000909				9326936;18310267;32506365;32488762;30999883;26770037;27103762		False	3	100;0;0	12.104	True		ENSG00000184908	ENSG00000184908	HGNC:2027													
CLDN10	gene	CLDN10	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Hypokalemic-alkalotic salt-losing tubulopathy;HELIX syndrome, OMIM:617671				19307729;31671507		False	3	50;50;0	12.104	False		ENSG00000134873	ENSG00000134873	HGNC:2033													
CLDN16	gene	CLDN16	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Hypomagnesemia 3, renal 248250				10390358;10878661;16528408;16501001;26426912		False	3	100;0;0	12.104	False		ENSG00000113946	ENSG00000113946	HGNC:2037													
CLDN16	gene	CLDN16	Expert Review Green;Expert	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Hypomagnesemia 3, renal, OMIM:248250						False	3	100;0;0	12.104	True		ENSG00000113946	ENSG00000113946	HGNC:2037													
CLDN19	gene	CLDN19	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Hypomagnesemia 5, renal, with ocular involvement, 248190				17033971;22422540;27530400		False	3	100;0;0	12.104	False		ENSG00000164007	ENSG00000164007	HGNC:2040													
CLDN19	gene	CLDN19	Expert Review Green;Expert	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	hypomagensemia with nephrocalcinosis;Hypomagnesemia 5, renal, with ocular involvement				PMID: 17033971		False	3	100;0;0	12.104	True		ENSG00000164007	ENSG00000164007	HGNC:2040													
CNNM2	gene	CNNM2	NHS GMS;Expert Review Green;Expert list	Unexplained young onset end-stage renal disease		Renal	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Hypomagnesemia 6, renal, OMIM:613882;Hypomagnesemia, seizures, and mental retardation, OMIM:616418;renal hypomagnesemia 6, MONDO:0013480;Hypomagnesemia, seizures, and mental retardation, MONDO:0014631				33600043;30026055;32997713;34604137;33859252;24699222;35002148;21397062		False	3	100;0;0	12.104	False	Other	ENSG00000148842	ENSG00000148842	HGNC:103													
COL4A1	gene	COL4A1	NHS GMS;Expert Review Green;Expert Review	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Exophytic renal cysts;haematuria;Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps OMIM:611773				18160688;20818663;27190376;26839400;26260163;28717939;19238787		False	3	100;0;0	12.104	True		ENSG00000187498	ENSG00000187498	HGNC:2202													
COL4A1	gene	COL4A1	Expert Review Green;Expert Review	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Exophytic renal cysts;raised creatinine kinase;tortuous retinal vessels;intracranial anuerysms;haematuria;Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773				18160688;20818663		False	3	100;0;0	12.104	False		ENSG00000187498	ENSG00000187498	HGNC:2202													
COL4A3	gene	COL4A3	NHS GMS;Expert Review Green;Eligibility statement prior genetic testing;UKGTN;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Unexplained young onset end-stage renal disease		Renal	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Alport syndrome, autosomal dominant OMIM:104200;Alport syndrome, autosomal recessive OMIM:203780;Hematuria, benign familial OMIM:141200				17942953;30506145;29987460;24052634		False	3	100;0;0	12.104	True	Other - please provide details in the comments	ENSG00000169031	ENSG00000169031	HGNC:2204													
COL4A3	gene	COL4A3	NHS GMS;Expert Review Green;Eligibility statement prior genetic testing	Unexplained young onset end-stage renal disease		Renal	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Alport syndrome, autosomal dominant #104200;Alport syndrome, autosomal recessive #203780;Hematuria, benign familial #141200				30506145;29987460;24052634		False	3	100;0;0	12.104	True		ENSG00000169031	ENSG00000169031	HGNC:2204													
COL4A4	gene	COL4A4	NHS GMS;Expert Review Green;Eligibility statement prior genetic testing	Unexplained young onset end-stage renal disease		Renal	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Alport syndrome 2, autosomal recessive, OMIM:203780;Hematuria,familial benign, OMIM:141200				30506145;29987460;24052634		False	3	100;0;0	12.104	True		ENSG00000081052	ENSG00000081052	HGNC:2206													
COL4A4	gene	COL4A4	NHS GMS;Expert Review Green;Eligibility statement prior genetic testing;UKGTN;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Unexplained young onset end-stage renal disease		Renal	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Alport syndrome 2, autosomal recessive OMIM:203780;Hematuria, familial benign OMIM:141200				17942953;30506145;29987460;24052634		False	3	100;0;0	12.104	True	Other - please provide details in the comments	ENSG00000081052	ENSG00000081052	HGNC:2206													
COL4A5	gene	COL4A5	NHS GMS;Expert Review Green;Eligibility statement prior genetic testing;UKGTN;Radboud University Medical Center, Nijmegen	Unexplained young onset end-stage renal disease		Renal	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Alport syndrome 1, X-linked OMIM:301050				14514738		False	3	100;0;0	12.104	True	Other - please provide details in the comments	ENSG00000188153	ENSG00000188153	HGNC:2207													
COL4A5	gene	COL4A5	NHS GMS;Expert Review Green;Eligibility statement prior genetic testing	Unexplained young onset end-stage renal disease		Renal	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Alports;Familial benign haematuria;Alport syndrome;proteinuria;haematuria;FSGS				29987460;29270492		False	3	100;0;0	12.104	True		ENSG00000188153	ENSG00000188153	HGNC:2207													
COQ2	gene	COQ2	NHS GMS;Expert Review Green;Eligibility statement prior genetic testing	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Coenzyme Q10 deficiency, primary, 1, OMIM:607426				17855635;29637272;30180404		False	3	100;0;0	12.104	True		ENSG00000173085	ENSG00000173085	HGNC:25223													
COQ6	gene	COQ6	NHS GMS;Expert Review Green;Eligibility statement prior genetic testing	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Coenzyme Q10 deficiency, primary, 6 #614650				21540551		False	3	50;50;0	12.104	True		ENSG00000119723	ENSG00000119723	HGNC:20233													
COQ8B	gene	COQ8B	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Nephrotic syndrome, type 9 #615573				24270420		False	3	100;0;0	12.104	False		ENSG00000123815	ENSG00000123815	HGNC:19041													
CRB2	gene	CRB2	Expert Review Green;NHS GMS;Literature	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	steroid resistant nephrotic syndrome;Focal segmental glomerulosclerosis 9 #616220;Ventriculomegaly with cystic kidney disease #219730				25557779;27942854;29473663		False	3	100;0;0	12.104	False		ENSG00000148204	ENSG00000148204	HGNC:18688													
CRB2	gene	CRB2	Expert Review;Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Ventriculomegaly with cystic kidney disease 219730				25557780		False	3	100;0;0	12.104	False		ENSG00000148204	ENSG00000148204	HGNC:18688													
CSPP1	gene	CSPP1	Orphanet;Expert Review Green;Expert list;Other	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome;Meckel syndrome;Joubert syndrome 21;Meckel-Gruber syndrome				24360807;24360803;24360808		False	3	100;0;0	12.104	False		ENSG00000104218	ENSG00000104218	HGNC:26193													
CTNS	gene	CTNS	NHS GMS;Expert Review;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;UKGTN;Emory Genetics Laboratory;Literature	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Cystinosis, atypical nephropathic 219800;Cystinosis, late-onset juvenile or adolescent nephropathic 219900;Cystinosis, nephropathic 219800;Cystinosis, ocular nonnephropathic 219750				27604308;9537412;19863563;35137071		False	3	100;0;0	12.104	False		ENSG00000040531	ENSG00000040531	HGNC:2518													
CUBN	gene	CUBN	NHS GMS;Expert Review Green;Expert;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Megaloblastic anemia-1, Finnish type, 261100;Megaloblastic Anemia; (originally on the Imerslund-Grasbeck syndrome gene panel)				21903995;22574174		False	3	50;50;0	12.104	True		ENSG00000107611	ENSG00000107611	HGNC:2548													
CUL3	gene	CUL3	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Pseudohypoaldosteronism, type IIE, 214496				22266938		False	3	100;0;0	12.104	False		ENSG00000036257	ENSG00000036257	HGNC:2553													
CYP24A1	gene	CYP24A1	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Hypercalcemia, infantile, 1 143880				21675912;22047572		False	3	100;0;0	12.104	False		ENSG00000019186	ENSG00000019186	HGNC:2602													
CYP24A1	gene	CYP24A1	Expert Review Green;NHS GMS;Expert list	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Hypercalcemia, infantile, 1, OMIM:143880;hypercalcemia, infantile, 1, MONDO:0020739				27105398;28324001;21675912;22337913;24235083;26214117;2712945;34307984;38504242;33249478		False	3	100;0;0	12.104	False		ENSG00000019186	ENSG00000019186	HGNC:2602													
CYP24A1	gene	CYP24A1	Expert Review Green;Expert;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Infantile Hypercalcemia;Hypercalcemia, infantile, 143880;Infantile hypercalcaemia						False	3	100;0;0	12.104	True		ENSG00000019186	ENSG00000019186	HGNC:2602													
DAAM2	gene	DAAM2	Expert Review Green;Literature	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	steroid-resistant nephrotic syndrome MONDO:0044765				33232676		False	3	100;0;0	12.104	False		ENSG00000146122	ENSG00000146122	HGNC:18143													
DDX59	gene	DDX59	Expert Review Green;Expert list;Radboud University Medical Center, Nijmegen;UKGTN;Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Orofaciodigital syndrome V, 174300				29127725;23972372;28711741		False	3	50;0;50	12.104	False		ENSG00000118197	ENSG00000118197	HGNC:25360													
DGKE	gene	DGKE	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Nephrotic syndrome, type 7, OMIM:615008				23274426;23542698		False	3	50;50;0	12.104	False		ENSG00000153933	ENSG00000153933	HGNC:2852													
DGKE	gene	DGKE	NHS GMS;Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Hemolytic uremic syndrome, atypical, susceptibility to, 7 615008				 23542698; 25854283		False	3	50;50;0	12.104	False		ENSG00000153933	ENSG00000153933	HGNC:2852													
DGKE	gene	DGKE	NHS GMS;Expert Review Green;Expert list	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Haemolytic uraemic syndrome; aHUS; Hemolytic uremic syndrome, atypical, susceptibility to, 7, 615008; Nephrotic syndrome, type 7, 615008;C3 glomerulopathy; C3G; Immune complex MPGN; IC-MPGN				23274426;23542698;21902819;28526779		False	3	33;33;33	12.104	True		ENSG00000153933	ENSG00000153933	HGNC:2852													
DHCR7	gene	DHCR7	Expert Review Green;UKGTN	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Smith-Lemli-Opitz syndrome, OMIM:270400				9634533		False	3	33;0;67	12.104	False		ENSG00000172893	ENSG00000172893	HGNC:2860													
DLC1	gene	DLC1	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Childhood and adult SSNS and SRNS				29773874		False	3	100;0;0	12.104	False		ENSG00000164741	ENSG00000164741	HGNC:2897													
DLG5	gene	DLG5	NHS GMS;Expert Review Green;Literature	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Yuksel-Vogel-Bauser syndrome, OMIM:620703				32631816;30791088;17765678;35361250		False	3	80;20;0	12.104	False		ENSG00000151208	ENSG00000151208	HGNC:2904													
DNAJB11	gene	DNAJB11	Expert Review Green;Other	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	cystic kidney disease;end stage renal failure;non-enlarged kidney;Polycystic kidney disease;Tubulointerstitial kidney disease				29706351		False	3	100;0;0	12.104	False		ENSG00000090520	ENSG00000090520	HGNC:14889													
DNAJB11	gene	DNAJB11	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Polycystic kidney disease 6 with or without polycystic liver disease, OMIM:618061;Tubulointerstitial disease				29706351;29777155		False	3	50;50;0	12.104	False		ENSG00000090520	ENSG00000090520	HGNC:14889													
DSTYK	gene	DSTYK	Expert Review Green	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital anomalies of kidney and urinary tract 1, OMIM:610805						False	3	60;20;20	12.104	False		ENSG00000133059	ENSG00000133059	HGNC:29043													
DYNC2H1	gene	DYNC2H1	Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Other;Emory Genetics Laboratory	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091						False	3	0;0;0	12.104	False		ENSG00000187240	ENSG00000187240	HGNC:2962													
DZIP1L	gene	DZIP1L	Expert Review Green;Expert Review	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Polycystic kidney disease 5, OMIM:617610;polycystic kidney disease 5, MONDO_0033281				28530676;35211789		False	3	100;0;0	12.104	False	Other - please provide details in the comments	ENSG00000158163	ENSG00000158163	HGNC:26551													
EYA1	gene	EYA1	Expert Review Green	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Branchiootorenal syndrome 1, with or without cataracts, OMIM:113650						False	3	80;20;0	12.104	False		ENSG00000104313	ENSG00000104313	HGNC:3519													
FAH	gene	FAH	Emory Genetics Laboratory;UKGTN;Illumina TruGenome Clinical Sequencing Services;Literature;Expert Review;Radboud University Medical Center, Nijmegen	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	"Tyrosinemia, type I	276700"				8723690; 7550234; 27604308		False	3	100;0;0	12.104	False		ENSG00000103876	ENSG00000103876	HGNC:3579													
FAM20A	gene	FAM20A	Expert Review Green;Expert	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Amelogenesis imperfecta, type IG (enamel-renal syndrome) 204690				23468644;30394349;28298625;22732358		False	3	100;0;0	12.104	False		ENSG00000108950	ENSG00000108950	HGNC:23015													
FAN1	gene	FAN1	Expert Review Green;Expert Review	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Interstitial nephritis, karyomegalic, OMIM:614817;karyomegalic interstitial nephritis, MONDO:0013898;chronic kidney disease				22772369;35931300		False	3	100;0;0	12.104	False		ENSG00000198690	ENSG00000198690	HGNC:29170													
FAT1	gene	FAT1	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Glomerulotubular nephropathy				26905694		False	3	100;0;0	12.104	False		ENSG00000083857	ENSG00000083857	HGNC:3595													
FGA	gene	FGA	NHS GMS;Expert Review Green	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Amyloidosis, familial visceral, OMIM:105200				19073821;29142973;23551149		False	3	100;0;0	12.104	False		ENSG00000171560	ENSG00000171560	HGNC:3661													
FLCN	gene	FLCN	Expert Review Green;Expert Review;Literature	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Birt-Hogg-Dube syndrome, OMIM:135150;renal cysts;cutaneous fibrofolliculoma;pneumothorax;pulmonary cysts;renal cell carcinoma;renal oncocytoma				19785621;31266032		False	3	100;0;0	12.104	False		ENSG00000154803	ENSG00000154803	HGNC:27310													
FN1	gene	FN1	Expert Review Green;Expert list	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Glomerulopathy with fibronectin deposits 2, OMIM:601894				18268355;27056061;31419955		False	3	100;0;0	12.104	False		ENSG00000115414	ENSG00000115414	HGNC:3778													
FRAS1	gene	FRAS1	Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Fraser syndrome 1, OMIM:219000						False	3	80;20;0	12.104	False		ENSG00000138759	ENSG00000138759	HGNC:19185													
FREM1	gene	FREM1	Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Bifid nose with or without anorectal and renal anomalies, OMIM:608980				24700879		False	3	75;25;0	12.104	False		ENSG00000164946	ENSG00000164946	HGNC:23399													
FREM2	gene	FREM2	Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Fraser syndrome 2, OMIM:617666						False	3	75;25;0	12.104	False		ENSG00000150893	ENSG00000150893	HGNC:25396													
GANAB	gene	GANAB	Expert Review Green;Expert Review	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Mild cystic kidney and liver disease;Polycyctic kidney disease 3				Porath B, Gainullin VG, Cornec-Le Gall E, Dillinger EK, Heyer CM, Hopp K, Edwards ME, Madsen CD, Mauritz SR, Banks CJ, Baheti S, Reddy B, Herrero JI, Ba ales JM, Hogan MC, Tasic V, Watnick TJ, Chapman AB, Vigneau C, Lavainne F, Audr zet MP, Ferec C, Le Meur Y, Torres VE, Genkyst Study Group, HALT Progression of Polycystic Kidney Disease Group, Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease, Harris PC. Mutations in GANAB, Encoding the Glucosidase II  Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease. Am J Hum Genet. 2016 Jun 2;98(6):1193-207. doi: 10.1016/j.ajhg.2016.05.004. PubMed PMID: 27259053, PubMed Central PMCID: PMC4908191.		False	3	100;0;0	12.104	False		ENSG00000089597	ENSG00000089597	HGNC:4138													
GATA3	gene	GATA3	Expert Review Green	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hypoparathyroidism, sensorineural deafness, and renal dysplasia, OMIM:146255						False	3	75;25;0	12.104	False		ENSG00000107485	ENSG00000107485	HGNC:4172													
GATM	gene	GATM	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Fanconi renotubular syndrome 1, OMIM:134600				29654216		False	3	100;0;0	12.104	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000171766	ENSG00000171766	HGNC:4175													
GATM	gene	GATM	NHS GMS;Expert Review Green	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Fanconi renotubular syndrome 1, OMIM:134600;Fanconi renotubular syndrome 1, MONDO:0024525				29654216		False	3	100;0;0	12.104	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments	ENSG00000171766	ENSG00000171766	HGNC:4175													
GLA	gene	GLA	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Fabry disease 301500				2539398;7504405;12786754		False	3	100;0;0	12.104	False		ENSG00000102393	ENSG00000102393	HGNC:4296													
GLA	gene	GLA	NHS GMS;Expert Review Green;Expert	Unexplained young onset end-stage renal disease		Renal	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Fabry disease, OMIM:301500;Fabry disease, MONDO:0010526;Renal cyst, HP:0000107;renal parapelvic cysts				29770213;28371803;27061865;21290670;15327390;15091117		False	3	67;33;0	12.104	True		ENSG00000102393	ENSG00000102393	HGNC:4296													
GLI3	gene	GLI3	Expert Review Green	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Pallister-Hall syndrome, OMIM:146510						False	3	67;33;0	12.104	False		ENSG00000106571	ENSG00000106571	HGNC:4319													
GLIS2	gene	GLIS2	Expert Review Green;NHS GMS;Illumina TruGenome Clinical Sequencing Services;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Emory Genetics Laboratory	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis 7, OMIM:611498				17618285;18227149;23559409;26374130;31676329		False	3	33;0;67	12.104	False		ENSG00000126603	ENSG00000126603	HGNC:29450													
GNA11	gene	GNA11	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hypocalcemia, autosomal dominant 2 615361				23802536;24823460;23802516		False	3	100;0;0	12.104	False		ENSG00000088256	ENSG00000088256	HGNC:4379													
GON7	gene	GON7	Expert Review Green;Literature	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Galloway-Mowat syndrome MONDO:0009627				31481669		False	3	50;50;0	12.104	False		ENSG00000170270	ENSG00000170270	HGNC:20356													
GRHPR	gene	GRHPR	Expert Review Green;Eligibility statement prior genetic testing;Expert;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;UKGTN	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Primary Hyperoxaluria;Primary Hyperoxaluria Type 2;Hyperoxaluria, primary, type II, 260000;Hyperoxaluria						False	3	100;0;0	12.104	True		ENSG00000137106	ENSG00000137106	HGNC:4570													
GRIP1	gene	GRIP1	Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Fraser syndrome 3, OMIM:617667				14730302;24357607;24700879;22510445		False	3	67;33;0	12.104	False		ENSG00000155974	ENSG00000155974	HGNC:18708													
GSN	gene	GSN	NHS GMS;Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Amyloidosis, Finnish type, OMIM:105120				24601799;25342098;22938848		False	3	100;0;0	12.104	False		ENSG00000148180	ENSG00000148180	HGNC:4620													
HAAO	gene	HAAO	Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Vertebral, cardiac, renal, and limb defects syndrome 1, OMIM:617660				17334708;27604308;28792876		False	3	50;50;0	12.104	False		ENSG00000162882	ENSG00000162882	HGNC:4796													
HNF1B	gene	HNF1B	NHS GMS;Expert Review Green	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Renal cysts and diabetes syndrome MIM 137920;NIDDM MIM 125853				15930087		False	3	100;0;0	12.104	False		ENSG00000108753	ENSG00000275410	HGNC:11630													
HNF1B	gene	HNF1B	Expert Review Green;Expert list;UKGTN	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel						False	3	0;0;100	12.104	False		ENSG00000108753	ENSG00000275410	HGNC:11630													
HNF1B	gene	HNF1B	Expert Review Green;UKGTN;Literature	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Renal cysts and diabetes syndrome				PMID: 11562418; 12012276; 15085338		False	3	100;0;0	12.104	True		ENSG00000108753	ENSG00000275410	HGNC:11630													
HNF1B	gene	HNF1B	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Renal cysts and diabetes syndrome, 137920;Diabetes mellitus, noninsulin-dependent, 125853				19389850		False	3	100;0;0	12.104	False		ENSG00000108753	ENSG00000275410	HGNC:11630													
HNF4A	gene	HNF4A	Expert Review Green;Expert list	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM:616026				22802087;24285859;30005691;28458902;31875549		False	3	100;0;0	12.104	False		ENSG00000101076	ENSG00000101076	HGNC:5024													
HNF4A	gene	HNF4A	Expert Review Green;Expert	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM:616026				24285859;25819479		False	3	50;50;0	12.104	False		ENSG00000101076	ENSG00000101076	HGNC:5024													
HOGA1	gene	HOGA1	Expert Review Green;Eligibility statement prior genetic testing;Expert;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;UKGTN	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Primary Hyperoxaluria;Hyperoxaluria, primary, type III, 613616;Hyperoxaluria						False	3	100;0;0	12.104	True		ENSG00000241935	ENSG00000241935	HGNC:25155													
HPRT1	gene	HPRT1	Expert Review Green;Expert	Unexplained young onset end-stage renal disease		Renal	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Hyperuricemia, HRPT-related, OMIM:300323;Lesch-Nyhan syndrome, OMIM:300322				31129767;27079129		False	3	100;0;0	12.104	False		ENSG00000165704	ENSG00000165704	HGNC:5157													
HPSE2	gene	HPSE2	Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Urofacial syndrome 1, OMIM:236730;Congenital bladder disease: dyssynergic, high pressure bladder				20560209;20560210		False	3	75;25;0	12.104	False		ENSG00000172987	ENSG00000172987	HGNC:18374													
HYLS1	gene	HYLS1	Expert Review Green;Radboud University Medical Center, Nijmegen;Expert list;Emory Genetics Laboratory;UKGTN	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome;Hydrolethalus syndrome, 236680				26830932 - report in two siblings with Joubert syndrome;19656802 - impairment in ciligenesis;18648327 - Hydrolethalus syndrome;15843405 - Hydrolethalus syndrome		False	3	0;0;0	12.104	False		ENSG00000198331	ENSG00000198331	HGNC:26558													
ICK	gene	ICK	Expert Review Green;Literature;Expert Review Green;Literature	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Endocrine-cerebroosteodysplasia, OMIM:612651;Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980				19185282;27069622;27466187		False	3	0;100;0	12.104	False		ENSG00000112144	ENSG00000112144	HGNC:21219													
IFT122	gene	IFT122	Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Cranioectodermal dysplasia;Cranioectodermal dysplasia 1, 218330				19000668;24027799;23826986;26792575;24689072;20493458		False	3	0;0;0	12.104	False		ENSG00000163913	ENSG00000163913	HGNC:13556													
IFT140	gene	IFT140	NHS GMS;Expert Review Green;Research;Literature	Unexplained young onset end-stage renal disease		Renal	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM:266920;short-rib thoracic dysplasia 9 with or without polydactyly, MONDO:0009964;cystic kidney disease, MONDO:0002473;{Polycystic kidney disease 9, susceptibility to}, OMIM:621164				22503633;23418020;34890546		False	3	100;0;0	12.104	False		ENSG00000187535	ENSG00000187535	HGNC:29077													
IFT140	gene	IFT140	Expert Review Green;Expert Review	Unexplained young onset end-stage renal disease		Renal	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM:266920;short-rib thoracic dysplasia 9 with or without polydactyly, MONDO:0009964;cystic kidney disease, MONDO:0002473;{Polycystic kidney disease 9, susceptibility to}, OMIM:621164				22503633;23418020;29706353;34890546		False	3	100;0;0	12.104	False		ENSG00000187535	ENSG00000187535	HGNC:29077													
IFT172	gene	IFT172	Expert Review Green;Expert list	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Short-rib thoracic dysplasia 10 with or without polydactyly, OMIM:615630				25168386;30761183;24488770;24140113		False	3	100;0;0	12.104	False		ENSG00000138002	ENSG00000138002	HGNC:30391													
IFT27	gene	IFT27	Expert Review Green;Expert list;Radboud University Medical Center, Nijmegen;UKGTN	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 19, OMIM:615996				24488770;29704304;30761183		False	3	100;0;0	12.104	False		ENSG00000100360	ENSG00000100360	HGNC:18626													
IFT43	gene	IFT43	Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Emory Genetics Laboratory;Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Cranioectodermal dysplasia 3, 614099;Sensenbrenner syndrome;Short-rib thoracic dysplasia 18 with polydactyly, 617866				29896747;28400947;26892345;24027799;21378380;22791528		False	3	67;0;33	12.104	False		ENSG00000119650	ENSG00000119650	HGNC:29669													
INF2	gene	INF2	NHS GMS;Expert Review Green;Eligibility statement prior genetic testing	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Glomerulosclerosis, focal segmental, 5 #613237;Adult onset nephrotic syndrome (+CMT);FSGS;proteinuria;renal failure				20023659;25165188		False	3	100;0;0	12.104	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000203485	ENSG00000203485	HGNC:23791													
INPP5E	gene	INPP5E	Expert Review Green;Expert list;Other	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome;Joubert syndrome 1				23386033;26748598		False	3	100;0;0	12.104	False		ENSG00000148384	ENSG00000148384	HGNC:21474													
INVS	gene	INVS	NHS GMS;Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis 2, infantile, OMIM:602088;nephronophthisis 2, MONDO:0011190						False	3	100;0;0	12.104	False		ENSG00000119509	ENSG00000119509	HGNC:17870													
INVS	gene	INVS	Expert Review Green;Expert	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Ciliopathy genes associated with cystic kidney disease						False	3	100;0;0	12.104	True		ENSG00000119509	ENSG00000119509	HGNC:17870													
INVS	gene	INVS	Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Emory Genetics Laboratory	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Senior-Loken syndrome;Nephronophthisis 2, infantile, 602088;Nephronophthisis				12872123		False	3	0;0;0	12.104	False		ENSG00000119509	ENSG00000119509	HGNC:17870													
IQCB1	gene	IQCB1	Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Emory Genetics Laboratory	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Senior-Loken syndrome 5, 609254;Senior-Loken syndrome						False	3	0;0;0	12.104	False		ENSG00000173226	ENSG00000173226	HGNC:28949													
ITGA3	gene	ITGA3	NHS GMS;Expert Review Green;Eligibility statement prior genetic testing	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital #614748						False	3	0;100;0	12.104	True		ENSG00000005884	ENSG00000005884	HGNC:6139													
ITGA8	gene	ITGA8	Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Renal hypodysplasia/aplasia 1, OMIM:191830						False	3	75;25;0	12.104	False		ENSG00000077943	ENSG00000077943	HGNC:6144													
ITSN1	gene	ITSN1	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Early childhood SSNS				29773874		False	3	100;0;0	12.104	False		ENSG00000205726	ENSG00000205726	HGNC:6183													
KCNJ1	gene	KCNJ1	Expert Review Green;Expert;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Antenatal Bartter Syndrome;Bartter syndrome, type 2, 241200;Type 2 Bartter syndrome;often initial transient hyperkalemia						False	3	100;0;0	12.104	True		ENSG00000151704	ENSG00000151704	HGNC:6255													
KCNJ1	gene	KCNJ1	NHS GMS;Expert Review Green;Eligibility statement prior genetic testing	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Hypokalaemic alkalosis with hypercalciuria;Type 2 Bartter syndrome;often initial transient hyperkalemia;Bartter syndrome, type 2, 241200						False	3	100;0;0	12.104	True		ENSG00000151704	ENSG00000151704	HGNC:6255													
KCNJ10	gene	KCNJ10	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	SESAME/EAST syndrome, 612780				19289823;20807765;20651251;21849804		False	3	100;0;0	12.104	False		ENSG00000177807	ENSG00000177807	HGNC:6256													
KCNJ16	gene	KCNJ16	NHS GMS;Expert Review Green;Literature	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Hypokalemic tubulopathy and deafness, OMIM:619406				33811157;33840812		False	3	100;0;0	12.104	False		ENSG00000153822	ENSG00000153822	HGNC:6262													
KIAA0586	gene	KIAA0586	Expert Review Green;Expert list;Other	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 23;Joubert syndrome;Short-rib thoracic dysplasia 14 with polydactyly;Short-rib dysplasia 14 with polydactyly				26096313		False	3	100;0;0	12.104	False		ENSG00000100578	ENSG00000100578	HGNC:19960													
KIAA0753	gene	KIAA0753	Expert Review Green;Literature;Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	?Orofaciodigital syndrome XV 617127;Joubert syndrome;Short-rib skeletal dysplasia				29138412;28220259;26643951		False	3	50;0;50	12.104	False		ENSG00000198920	ENSG00000198920	HGNC:29110													
KIF7	gene	KIF7	Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Other;Emory Genetics Laboratory	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 12   200990;Acrocallosal syndrome   200990				21633164		False	3	100;0;0	12.104	False		ENSG00000166813	ENSG00000166813	HGNC:30497													
KLHL3	gene	KLHL3	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Pseudohypoaldosteronism, type IID, 614495				22266938;22406640		False	3	100;0;0	12.104	False		ENSG00000146021	ENSG00000146021	HGNC:6354													
KYNU	gene	KYNU	Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Vertebral, cardiac, renal, and limb defects syndrome 2, OMIM:617661				17334708;27604308;28792876		False	3	50;50;0	12.104	False		ENSG00000115919	ENSG00000115919	HGNC:6469													
LAGE3	gene	LAGE3	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Galloway-Mowat syndrome 2, X-linked, OMIM:301006				28805828		False	3	100;0;0	12.104	False		ENSG00000196976	ENSG00000196976	HGNC:26058													
LAMB2	gene	LAMB2	NHS GMS;Expert Review Green;Eligibility statement prior genetic testing	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Nephrotic syndrome, type 5, with or without ocular abnormalities #614199;Pierson syndrome #609049				20556798		False	3	100;0;0	12.104	True		ENSG00000172037	ENSG00000172037	HGNC:6487													
LCAT	gene	LCAT	Expert Review Green;NHS GMS;Expert Review	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Norum disease, OMIM:245900;Norum disease, MONDO:0009515;LCAT DEFICIENCY				21315357;30201532;29535099;22108153;28508023;25657982;9884427		False	3	67;33;0	12.104	False		ENSG00000213398	ENSG00000213398	HGNC:6522													
LMX1B	gene	LMX1B	NHS GMS;Expert Review Green;Eligibility statement prior genetic testing	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Nail-patella syndrome #161200;FSGS;proteinuria;kidney failure;isolated glomerulopathy				18414507;2368736;24042019		False	3	100;0;0	12.104	True	Other - please provide details in the comments	ENSG00000136944	ENSG00000136944	HGNC:6654													
LRIG2	gene	LRIG2	Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Urofacial syndrome 2, OMIM:615112;Congenital bladder disease: dyssynergic, high pressure bladder				23313374		False	3	75;25;0	12.104	False		ENSG00000198799	ENSG00000198799	HGNC:20889													
LYZ	gene	LYZ	NHS GMS;Expert Review Green	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Amyloidosis, renal 105200				21988333		False	3	100;0;0	12.104	False		ENSG00000090382	ENSG00000090382	HGNC:6740													
LZTFL1	gene	LZTFL1	Expert Review Green;Radboud University Medical Center, Nijmegen;Expert list;Emory Genetics Laboratory;UKGTN;Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 17, 615994				22510444;27312011;23692385		False	3	0;0;100	12.104	False		ENSG00000163818	ENSG00000163818	HGNC:6741													
MAGED2	gene	MAGED2	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Bartter syndrome, type 5, antenatal, transient, OMIM:300971				27120771		False	3	100;0;0	12.104	False		ENSG00000102316	ENSG00000102316	HGNC:16353													
MAGI2	gene	MAGI2	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Nephrotic syndrome, type 15 617609				29773874;27932480		False	3	100;0;0	12.104	False		ENSG00000187391	ENSG00000187391	HGNC:18957													
MAPKBP1	gene	MAPKBP1	Expert Review Green;Expert list	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	NEPHRONOPHTHISIS 20				28089251		False	3	100;0;0	12.104	False		ENSG00000137802	ENSG00000137802	HGNC:29536													
MAPKBP1	gene	MAPKBP1	NHS GMS;Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis 20, OMIM:617271;nephronophthisis 20, MONDO:0014997				28089251		False	3	100;0;0	12.104	False		ENSG00000137802	ENSG00000137802	HGNC:29536													
MAPKBP1	gene	MAPKBP1	Expert Review Green;Literature	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis 20   617271				28089251		False	3	100;0;0	12.104	False		ENSG00000137802	ENSG00000137802	HGNC:29536													
MKKS	gene	MKKS	Eligibility statement prior genetic testing;Expert list;Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Bardet Biedl syndrome 6;236700				10802661;10973251;10973238		False	3	100;0;0	12.104	False		ENSG00000125863	ENSG00000125863	HGNC:7108													
MKS1	gene	MKS1	Orphanet;Eligibility statement prior genetic testing;Expert list;Expert Review Green;Other	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	occipital encephalocele;Joubert syndrome;Bardet-Biedl syndrome;Joubert syndrome 28;249000;polydactyly;polycystic kidneys;Meckel-Gruber syndrome;Meckel syndrome;renal fibrosis				26490104;17437276;18327255;24886560;16415886		False	3	67;0;33	12.104	False	Other - please provide details in the comments	ENSG00000011143	ENSG00000011143	HGNC:7121													
MMACHC	gene	MMACHC	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	"Methylmalonic aciduria and homocystinuria, cblC type,	277400"				24210589;1593355;11972107;12210350;17874135;29068997;27324188		False	3	50;50;0	12.104	False		ENSG00000132763	ENSG00000132763	HGNC:24525													
MOCOS	gene	MOCOS	Expert Review Green;Literature	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Xanthinuria, type II, OMIM:603592				11302742;17368066;14624414;25967871;34356852;32073534;30758870;27919260		False	3	100;0;0	12.104	False		ENSG00000075643	ENSG00000075643	HGNC:18234													
MT-TF	gene	MT-TF	Expert Review Green;Literature	Unexplained young onset end-stage renal disease		Renal	MITOCHONDRIAL	Tubulointerstitial kidney disease;tubulointerstitial nephritis;renal insufficiency;renal failure				28267784;11231339;20142618;23135609		False	3	100;0;0	12.104	False		ENSG00000210049	ENSG00000210049	HGNC:7481													
MUC1	gene	MUC1	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Medullary cystic kidney disease 1 MIM 174000				23396133;29967284;29156055;29520014;23946964		False	3	100;0;0	12.104	False	Other - please provide details in the comments	ENSG00000185499	ENSG00000185499	HGNC:7508													
MYH9	gene	MYH9	NHS GMS;Expert Review Green;Eligibility statement prior genetic testing	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Epstein syndrome #153650;Fechtner syndrome #153640				12792306;22627578;10973259;24186861		False	3	100;0;0	12.104	True		ENSG00000100345	ENSG00000100345	HGNC:7579													
MYH9	gene	MYH9	NHS GMS;Expert Review Green;Eligibility statement prior genetic testing	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:155100				10973259;12792306;22627578		False	3	100;0;0	12.104	True		ENSG00000100345	ENSG00000100345	HGNC:7579													
MYO1E	gene	MYO1E	NHS GMS;Expert Review Green;Eligibility statement prior genetic testing	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Glomerulosclerosis, focal segmental, 6 #614131				21697813;23595123		False	3	100;0;0	12.104	True		ENSG00000157483	ENSG00000157483	HGNC:7599													
NEK8	gene	NEK8	NHS GMS;Expert Review Green;Expert	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Polycystic kidney disease 8, OMIM:620903;polycystic kidney disease, MONDO:0020642;?Nephronophthisis 9, OMIM:613824				18199800;37598857		False	3	100;0;0	12.104	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000160602	ENSG00000160602	HGNC:13387													
NEK8	gene	NEK8	Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Emory Genetics Laboratory;Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Renal-hepatic-pancreatic dysplasia;?Renal-hepatic-pancreatic dysplasia 2, 615415;Nephronophthisis;?Nephronophthisis 9, 613824				18199800;26967905;26862157;26697755;23418306		False	3	67;0;33	12.104	False		ENSG00000160602	ENSG00000160602	HGNC:13387													
NOS1AP	gene	NOS1AP	NHS GMS;Expert Review Green;Literature	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Nephrotic syndrome, type 22, OMIM:619155				33523862		False	3	100;0;0	12.104	False		ENSG00000198929	ENSG00000198929	HGNC:16859													
NOS1AP	gene	NOS1AP	NHS GMS;Expert Review Green;Literature	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Nephrotic syndrome, type 22, OMIM:619155				33523862		False	3	100;0;0	12.104	False		ENSG00000198929	ENSG00000198929	HGNC:16859													
NPHP1	gene	NPHP1	NHS GMS;Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis 1, juvenile, OMIM:256100;nephronophthisis 1, MONDO:0009728;Senior-Loken syndrome-1, OMIM:266900;Senior-Loken syndrome 1, MONDO:0009962;Joubert syndrome 4, OMIM:609583;Joubert syndrome with renal defect, MONDO:0012308				34415307		False	3	100;0;0	12.104	False		ENSG00000144061	ENSG00000144061	HGNC:7905													
NPHP1	gene	NPHP1	Expert Review Green;Expert	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Ciliopathy genes associated with cystic kidney disease				34415307		False	3	100;0;0	12.104	True		ENSG00000144061	ENSG00000144061	HGNC:7905													
NPHP1	gene	NPHP1	Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Other;Emory Genetics Laboratory	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 4;Senior-Loken syndrome;256100 Senior-Loken syndrome-1, 266900;609583 Nephronophthisis 1, juvenile;Nephronophthisis				15138899;22982934;15689444;34415307		False	3	100;0;0	12.104	False		ENSG00000144061	ENSG00000144061	HGNC:7905													
NPHP3	gene	NPHP3	NHS GMS;Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis 3, OMIM:604387;nephronophthisis 3, MONDO:0011456;Renal-hepatic-pancreatic dysplasia 1, OMIM:208540;renal-hepatic-pancreatic dysplasia 1, MONDO:0008833;Meckel syndrome 7, OMIM:267010;NPHP3-related Meckel-like syndrome, MONDO:0009966						False	3	100;0;0	12.104	False		ENSG00000113971	ENSG00000113971	HGNC:7907													
NPHP3	gene	NPHP3	Expert Review Green;Expert	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Ciliopathy genes associated with cystic kidney disease						False	3	100;0;0	12.104	True		ENSG00000113971	ENSG00000113971	HGNC:7907													
NPHP3	gene	NPHP3	Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Emory Genetics Laboratory	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Renal-hepatic-pancreatic dysplasia;Senior-Loken syndrome;Nephronophthisis 3, 604387;Meckel syndrome 7, 267010;Renal-hepatic-pancreatic dysplasia 1, 208540;Nephronophthisis						False	3	0;0;0	12.104	False		ENSG00000113971	ENSG00000113971	HGNC:7907													
NPHP4	gene	NPHP4	Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Emory Genetics Laboratory	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Senior-Loken syndrome;Nephronophthisis;Senior-Loken syndrome 4, 606996;Nephronophthisis 4, 606966						False	3	0;0;0	12.104	False		ENSG00000131697	ENSG00000131697	HGNC:19104													
NPHP4	gene	NPHP4	Expert Review Green;Expert	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Ciliopathy genes associated with cystic kidney disease						False	3	100;0;0	12.104	True		ENSG00000131697	ENSG00000131697	HGNC:19104													
NPHP4	gene	NPHP4	NHS GMS;Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis 4, OMIM:606966;nephronophthisis 4, MONDO:0011752;Senior-Loken syndrome 4, OMIM:606996;Senior-Loken syndrome 4, MONDO:0011756				12244321;12205563		False	3	100;0;0	12.104	False		ENSG00000131697	ENSG00000131697	HGNC:19104													
NPHS1	gene	NPHS1	NHS GMS;Expert Review Green;Eligibility statement prior genetic testing	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Nephrotic syndrome, type 1 #602716						False	3	100;0;0	12.104	True		ENSG00000161270	ENSG00000161270	HGNC:7908													
NPHS2	gene	NPHS2	NHS GMS;Expert Review Green;Eligibility statement prior genetic testing	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Nephrotic syndrome, type 2 #600995						False	3	100;0;0	12.104	True		ENSG00000116218	ENSG00000116218	HGNC:13394													
NR3C2	gene	NR3C2	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Pseudohypoaldosteronism type I, autosomal dominant, 177735;Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 no inheritance pattern				9662404;12788847;16972228;16954160;12483305		False	3	100;0;0	12.104	False		ENSG00000151623	ENSG00000151623	HGNC:7979													
NUP107	gene	NUP107	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Nephrotic syndrome, type 11 #616730				26411495;30179222		False	3	100;0;0	12.104	False		ENSG00000111581	ENSG00000111581	HGNC:29914													
NUP133	gene	NUP133	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	?Galloway-Mowat syndrome 8 618349;Nephrotic syndrome, type 18 618177				30179222;30427554		False	3	100;0;0	12.104	False		ENSG00000069248	ENSG00000069248	HGNC:18016													
NUP85	gene	NUP85	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Nephrotic syndrome, type 17 #618176				30179222		False	3	100;0;0	12.104	False		ENSG00000125450	ENSG00000125450	HGNC:8734													
NUP93	gene	NUP93	NHS GMS;Expert Review Green;Literature	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome;Nephrotic syndrome, type 12 #616892				26411495;26878725		False	3	100;0;0	12.104	True		ENSG00000102900	ENSG00000102900	HGNC:28958													
OCRL	gene	OCRL	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Lowe syndrome, OMIM:309000;Dent disease 2, OMIM:300555				21249396;17384968;27625797		False	3	100;0;0	12.104	False		ENSG00000122126	ENSG00000122126	HGNC:8108													
OCRL	gene	OCRL	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Dent disease 2, OMIM:300555				10364518		False	3	100;0;0	12.104	False		ENSG00000122126	ENSG00000122126	HGNC:8108													
OCRL	gene	OCRL	Expert Review Green;Expert;Radboud University Medical Center, Nijmegen	Unexplained young onset end-stage renal disease		Renal	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Lowe syndrome, OMIM:309000;Dent disease 2, OMIM:300555;As for CLCN5 (Nephrocalcinosis with low molecular weight proteinuria and pregressive CKD) but may include intellectual disability and other features of Lowe syndrome				33517444		False	3	100;0;0	12.104	True		ENSG00000122126	ENSG00000122126	HGNC:8108													
OFD1	gene	OFD1	Eligibility statement prior genetic testing;Expert list;Expert Review Green;Other	Unexplained young onset end-stage renal disease		Renal	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Joubert syndrome 10;X-linked Joubert syndrome;Orofaciodigital syndrome I				19800048;22353940		False	3	100;0;0	12.104	False		ENSG00000046651	ENSG00000046651	HGNC:2567													
OSGEP	gene	OSGEP	NHS GMS;Expert Review Green;Literature	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	"Galloway-Mowat syndrome 3	617729"				28805828		False	3	100;0;0	12.104	True		ENSG00000092094	ENSG00000092094	HGNC:18028													
PAX2	gene	PAX2	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Papillorenal syndrome, OMIM:120330;renal coloboma syndrome, MONDO:0007352				33746522;16049068;22213154;31060108		False	3	100;0;0	12.104	False		ENSG00000075891	ENSG00000075891	HGNC:8616													
PAX2	gene	PAX2	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Glomerulosclerosis, focal segmental, 7 #616002				26571382		False	3	100;0;0	12.104	False		ENSG00000075891	ENSG00000075891	HGNC:8616													
PBX1	gene	PBX1	Expert Review Green	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, OMIM:617641				28270404;28566479		False	3	33;33;33	12.104	False		ENSG00000185630	ENSG00000185630	HGNC:8632													
PDSS2	gene	PDSS2	Expert Review Green;NHS GMS;Eligibility statement prior genetic testing	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Coenzyme Q10 deficiency, primary, 3 #614652;Leigh syndrome				23926186;29032433;25349199;17186472;18437205		False	3	50;50;0	12.104	True		ENSG00000164494	ENSG00000164494	HGNC:23041													
PHEX	gene	PHEX	Expert Review Green;Literature;Expert list	Unexplained young onset end-stage renal disease		Renal	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Hypophosphatemic rickets, X-linked dominant 307800				31514490;29460029		False	3	100;0;0	12.104	False		ENSG00000102174	ENSG00000102174	HGNC:8918													
PKD1	gene	PKD1	Expert Review Green;Eligibility statement prior genetic testing;Expert;UKGTN;Radboud University Medical Center, Nijmegen	Unexplained young onset end-stage renal disease		Renal	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Polycystic kidney disease, adult type I, 173900;Autosomal recessive polycystic kidney disease (ARPKD);Autosomal dominant polycystic kidney disease (ADPKD)				19165178;20558538;22034641;28378423;23624871		False	3	100;0;0	12.104	True		ENSG00000008710	ENSG00000008710	HGNC:9008													
PKD1	gene	PKD1	Expert Review Green;Expert list;Radboud University Medical Center, Nijmegen;UKGTN	Unexplained young onset end-stage renal disease		Renal	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Polycystic kidney disease, adult type I, 173900;Autosomal recessive polycystic kidney disease (ARPKD);Autosomal dominant polycystic kidney disease (ADPKD)				23624871;20558538		False	3	100;0;0	12.104	False		ENSG00000008710	ENSG00000008710	HGNC:9008													
PKD2	gene	PKD2	Expert Review Green;Eligibility statement prior genetic testing;Expert;Emory Genetics Laboratory;UKGTN;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Polycystic Kidney Disease, Autosomal Dominant;Polycystic kidney disease 2, 613095;Autosomal Dominant Polycystic Kidney Disease				28356211;23431072		False	3	100;0;0	12.104	True		ENSG00000118762	ENSG00000118762	HGNC:9009													
PKD2	gene	PKD2	Expert Review Green;Radboud University Medical Center, Nijmegen;Expert list;Emory Genetics Laboratory;UKGTN	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Polycystic kidney disease 2, 613095						False	3	0;0;0	12.104	False		ENSG00000118762	ENSG00000118762	HGNC:9009													
PKHD1	gene	PKHD1	Expert Review Green;Radboud University Medical Center, Nijmegen;Expert list;Emory Genetics Laboratory;UKGTN	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200						False	3	0;0;0	12.104	False		ENSG00000170927	ENSG00000170927	HGNC:9016													
PKHD1	gene	PKHD1	Expert Review Green;Eligibility statement prior genetic testing;Expert;UKGTN;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200						False	3	100;0;0	12.104	True		ENSG00000170927	ENSG00000170927	HGNC:9016													
PLCE1	gene	PLCE1	NHS GMS;Expert Review Green;Eligibility statement prior genetic testing	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Nephrotic syndrome, type 3 #610725;Congenital nephrotic syndrome/SRNS				20591883		False	3	100;0;0	12.104	True		ENSG00000138193	ENSG00000138193	HGNC:17175													
PMM2	gene	PMM2	Expert Review Green;Literature	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Ia 212065				9140401		False	3	100;0;0	12.104	False		ENSG00000140650	ENSG00000140650	HGNC:9115													
PODXL	gene	PODXL	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital nephrotic syndrome				30523047;29244787;28117080;24048372		False	3	100;0;0	12.104	False		ENSG00000128567	ENSG00000128567	HGNC:9171													
PRDM15	gene	PRDM15	NHS GMS;Expert Review Green;Literature	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	steroid-resistant nephrotic syndrome, MONDO:0044765				31950080;33593823		False	3	50;50;0	12.104	False		ENSG00000141956	ENSG00000141956	HGNC:13999													
PRDM15	gene	PRDM15	NHS GMS;Expert Review Green;Literature	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	steroid-resistant nephrotic syndrome, MONDO:0044765				31950080;33593823		False	3	50;50;0	12.104	False		ENSG00000141956	ENSG00000141956	HGNC:13999													
PRKCSH	gene	PRKCSH	NHS GMS;Expert Review Green;Expert	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Polycystic liver disease 1 with or without kidney cysts, OMIM:174050				12529853;12577059;24886261		False	3	100;0;0	12.104	True		ENSG00000130175	ENSG00000130175	HGNC:9411													
PSKH1	gene	PSKH1	Expert Review Green;NHS GMS;Literature	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Cholestasis, progressive familial intrahepatic, 13, OMIM:620962				39132680		False	3	100;0;0	12.104	False		ENSG00000159792	ENSG00000159792	HGNC:9529													
REN	gene	REN	NHS GMS;Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Renal tubular dysgenesis MIM 267430;Familial juvenile Hyperuricemic nephropathy-2 MIM 613092				16116425;19664745		False	3	100;0;0	12.104	False		ENSG00000143839	ENSG00000143839	HGNC:9958													
REN	gene	REN	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Hyperuricemic nephropathy, familial juvenile 2, 613092;Renal tubular dysgenesis 267430 AR				22095942;16116425;21036942;17555949;19664745		False	3	100;0;0	12.104	False		ENSG00000143839	ENSG00000143839	HGNC:9958													
RET	gene	RET	NHS GMS;Expert Review Green	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	{Hirschsprung disease, susceptibility to, 1}, OMIM:142623;Multiple endocrine neoplasia IIA, OMIM:171400;Multiple endocrine neoplasia IIB, OMIM:162300;Pheochromocytoma, OMIM:171300						False	3	75;25;0	12.104	False		ENSG00000165731	ENSG00000165731	HGNC:9967													
RMND1	gene	RMND1	NHS GMS;Expert Review Green;Expert list	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 11, OMIM:614922;tubulopathy;renal tubular acidosis;interstitial nephritis;end-stage renal disease;tubular atrophy				32911714;31889854;31568715		False	3	100;0;0	12.104	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000155906	ENSG00000155906	HGNC:21176													
RMND1	gene	RMND1	Literature;NHS GMS;Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 11, OMIM:614922				31568715;31889854;32911714		False	3	100;0;0	12.104	False		ENSG00000155906	ENSG00000155906	HGNC:21176													
RPGRIP1L	gene	RPGRIP1L	Orphanet;Expert Review Green;Expert list;Other	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 7;Meckel syndrome 5;Joubert syndrome;Meckel syndrome;Meckel-Gruber syndrome				17558409;17558407;19574260		False	3	100;0;0	12.104	False		ENSG00000103494	ENSG00000103494	HGNC:29168													
RRAGD	gene	RRAGD	NHS GMS;Expert Review Green;Literature	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	hypomagnesaemia;cardiomyopathy;tubular renal disease-cardiomyopathy syndrome, MONDO:0019130				34607910		False	3	100;0;0	12.104	False	Other	ENSG00000025039	ENSG00000025039	HGNC:19903													
RRAGD	gene	RRAGD	NHS GMS;Expert Review Green;Other	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	hypomagnesaemia;nephrocalcinosis;salt wasting;cardiomyopathy;tubular renal disease-cardiomyopathy syndrome, MONDO:0019130				34607910		False	3	100;0;0	12.104	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000025039	ENSG00000025039	HGNC:19903													
RRM2B	gene	RRM2B	Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), OMIM:612075;Mitochondrial DNA depletion syndrome 8B (MNGIE type), OMIM:612075;Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, OMIM:268315						False	3	75;25;0	12.104	False		ENSG00000048392	ENSG00000048392	HGNC:17296													
SALL1	gene	SALL1	Expert Review Green	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Townes-Brocks branchiootorenal-like syndrome, OMIM:107480;Townes-Brocks syndrome 1, OMIM:107480						False	3	75;25;0	12.104	False		ENSG00000103449	ENSG00000103449	HGNC:10524													
SARS2	gene	SARS2	Expert Review Green;Literature	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, OMIM:613845;Progressive Spastic Paresis				21255763;24034276;27279129		False	3	100;0;0	12.104	False		ENSG00000104835	ENSG00000104835	HGNC:17697													
SCARB2	gene	SCARB2	NHS GMS;Expert Review Green;Eligibility statement prior genetic testing	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Action myoclonus renal failure syndrome;Epilepsy, progressive myoclonic 4, with or without renal failure #254900				22032306		False	3	100;0;0	12.104	True		ENSG00000138760	ENSG00000138760	HGNC:1665													
SCNN1A	gene	SCNN1A	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Pseudohypoaldosteronism, type I, 264350;?Liddle syndrom 3, 618126;Bronchiectasis with or without elevated sweat chloride 2 613021				8589714;10586178		False	3	100;0;0	12.104	False		ENSG00000111319	ENSG00000111319	HGNC:10599													
SCNN1B	gene	SCNN1B	Expert Review Green;NHS GMS;Eligibility statement prior genetic testing	Unexplained young onset end-stage renal disease		Renal	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Pseudohypoaldosteronism, type I, 264350				8589714;26807262;31301676;31018202		False	3	100;0;0	12.104	False		ENSG00000168447	ENSG00000168447	HGNC:10600													
SCNN1G	gene	SCNN1G	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Pseudohypoaldosteronism, type I, 264350				8640238;29582446;7550319;12473862;17634077		False	3	100;0;0	12.104	False		ENSG00000166828	ENSG00000166828	HGNC:10602													
SDCCAG8	gene	SDCCAG8	Orphanet;Expert Review Green;Expert list	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	SENIOR-LOKEN SYNDROME;Bardet-Biedl Syndrome;613615;Senior-Loken syndrome				22190896		False	3	100;0;0	12.104	False		ENSG00000054282	ENSG00000054282	HGNC:10671													
SEC61A1	gene	SEC61A1	NHS GMS;Expert Review Green;Literature	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	hyporeninaemic hypoaldosteronism;autosomal dominant tubulointerstitial kidney disease				33185949;30586318;27392076;31488840		False	3	100;0;0	12.104	False		ENSG00000058262	ENSG00000058262	HGNC:18276													
SEC61A1	gene	SEC61A1	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Familial juvenile Hyperuricemic nephropathy-4 , OMIM:617056				27392076;30586318		False	3	100;0;0	12.104	False		ENSG00000058262	ENSG00000058262	HGNC:18276													
SEC63	gene	SEC63	NHS GMS;Expert Review Green;Expert	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Polycystic liver disease 2 with or without kidney cysts, OMIM:617004				15133510;24886261		False	3	100;0;0	12.104	True		ENSG00000025796	ENSG00000025796	HGNC:21082													
SGPL1	gene	SGPL1	NHS GMS;Expert Review Green;Literature	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	"Nephrotic syndrome 14	617575"				28181337; 28165339; 28165343		False	3	100;0;0	12.104	False		ENSG00000166224	ENSG00000166224	HGNC:10817													
SLC12A1	gene	SLC12A1	NHS GMS;Expert Review Green;Eligibility statement prior genetic testing	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Bartter syndrome, type 1, OMIM:601678;Bartter disease type 1, MONDO:0100344				8640224;32506365;26770037;27103762;8640224;9355073;28095294;32506365		False	3	100;0;0	12.104	True		ENSG00000074803	ENSG00000074803	HGNC:10910													
SLC12A1	gene	SLC12A1	Expert Review Green;Expert;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Bartter syndrome, type 1, OMIM:601678;Bartter disease type 1, MONDO:0100344				21631963;21189980;20219833;19513753;19096086;18830715;17998760;16807401;8640224;9355073;28095294;32506365		False	3	100;0;0	12.104	True		ENSG00000074803	ENSG00000074803	HGNC:10910													
SLC12A3	gene	SLC12A3	NHS GMS;Expert Review Green;Eligibility statement prior genetic testing	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Gitelman syndrome, OMIM: 263800;Gitelman syndrome, MONDO:0009904				22009145;27604308;26770037;30999883;30847515		False	3	100;0;0	12.104	True		ENSG00000070915	ENSG00000070915	HGNC:10912													
SLC22A12	gene	SLC22A12	Expert Review Green;Expert	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Hypouricemia, renal, 220150				29486147;29958533;18492088;15912381		False	3	100;0;0	12.104	False		ENSG00000197891	ENSG00000197891	HGNC:17989													
SLC22A12	gene	SLC22A12	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Hypouricemia, renal, 220150				18492088		False	3	100;0;0	12.104	False		ENSG00000197891	ENSG00000197891	HGNC:17989													
SLC2A2	gene	SLC2A2	Expert Review Green;Expert list	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Fanconi-Bickel syndrome, OMIM:227810				32150856;24175243;24912437		False	3	100;0;0	12.104	False		ENSG00000163581	ENSG00000163581	HGNC:11006													
SLC2A9	gene	SLC2A9	Expert Review Green;Expert	Unexplained young onset end-stage renal disease		Renal	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Hypouricemia, renal, 2, 612076				19926891;21256783;19026395;21810765;29486147;24940677		False	3	100;0;0	12.104	False		ENSG00000109667	ENSG00000109667	HGNC:13446													
SLC2A9	gene	SLC2A9	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Hypouricemia, renal, 2, 612076;{Uric acid concentration, serum, QTL 2}, 612076				19026395;19926891;21810765		False	3	100;0;0	12.104	False		ENSG00000109667	ENSG00000109667	HGNC:13446													
SLC34A1	gene	SLC34A1	Expert Review Green;Expert;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Unexplained young onset end-stage renal disease		Renal	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286;Hypophosphatemic Nephrolithiasis/Osteoporosis;Hypophosphatemic Nephrolithiasis/Osteoporosis (recessive);Nephrolithiasis with osteoporosis and hypophosphatemia;Nephrolithiasis with osteoporosis and hypophosphatemia				PMID: 26047794;25050900;12324554		False	3	100;0;0	12.104	True		ENSG00000131183	ENSG00000131183	HGNC:11019													
SLC34A3	gene	SLC34A3	NHS GMS;Expert Review Green;Expert;Radboud University Medical Center, Nijmegen;UKGTN	Unexplained young onset end-stage renal disease		Renal	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Hypophosphatemic rickets with hypercalciuria, OMIM:241530;HHRH;hereditary hypophosphatemic rickets with hypercalciuria, MONDO:0009431				25296721;26543054;24924704;24700880;16358214;27939817;24700880;17968493		False	3	100;0;0	12.104	False		ENSG00000198569	ENSG00000198569	HGNC:20305													
SLC3A1	gene	SLC3A1	Expert Review Green;Eligibility statement prior genetic testing;Expert	Unexplained young onset end-stage renal disease		Renal	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Cystinuria 220100						False	3	100;0;0	12.104	True		ENSG00000138079	ENSG00000138079	HGNC:11025													
SLC4A1	gene	SLC4A1	Expert Review Green;Eligibility statement prior genetic testing;Expert	Unexplained young onset end-stage renal disease		Renal	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	distal renal tubular acidosis;Renal tubular acidosis, distal, AD, 179800;Renal tubular acidosis, distal, AR 611590						False	3	0;0;0	12.104	True		ENSG00000004939	ENSG00000004939	HGNC:11027													
SLC4A1	gene	SLC4A1	NHS GMS;Expert Review Green;Eligibility statement prior genetic testing;Expert;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;UKGTN	Unexplained young onset end-stage renal disease		Renal	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Distal Renal Tubular Acidosis, Dominant;Ovalocytosis;Distal renal tubular acidosis;Renal tubular acidosis, distal, AD,179800;Renal tubular acidosis, distal, AR, 611590;Cryohydrocytosis, 185020;Ovalocystois, SA type 166900;Spherocytoisis type 4, 612653;various blood group associations.				9312167;9600966		False	3	100;0;0	12.104	True		ENSG00000004939	ENSG00000004939	HGNC:11027													
SLC4A4	gene	SLC4A4	NHS GMS;Expert Review Green;Expert;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Renal tubular acidosis, proximal, with ocular abnormalities, 604278;Proximal Renal Tubular Acidosis with Ocular Abnormalities;Proximal Renal Tubular Acidosis with Ocular Abnormalities (recessive). 				10545938		False	3	100;0;0	12.104	True		ENSG00000080493	ENSG00000080493	HGNC:11030													
SLC5A2	gene	SLC5A2	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Renal glucosuria, 233100				12436245;21165652;26376857		False	3	100;0;0	12.104	False		ENSG00000140675	ENSG00000140675	HGNC:11037													
SLC7A9	gene	SLC7A9	Expert Review Green;Eligibility statement prior genetic testing;Expert	Unexplained young onset end-stage renal disease		Renal	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Cystinuria 220100						False	3	100;0;0	12.104	True		ENSG00000021488	ENSG00000021488	HGNC:11067													
SMARCAL1	gene	SMARCAL1	NHS GMS;Expert Review Green;Eligibility statement prior genetic testing	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Schimke immunoosseous dysplasia, OMIM:242900				11799392;24589093		False	3	100;0;0	12.104	True		ENSG00000138375	ENSG00000138375	HGNC:11102													
STRADA	gene	STRADA	Expert Review Green;Other	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087				27170158;17522105;28688840		False	3	50;0;50	12.104	False		ENSG00000266173	ENSG00000266173	HGNC:30172													
TBC1D8B	gene	TBC1D8B	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Nephrotic syndrome, type 20, OMIM:301028				30661770		False	3	100;0;0	12.104	False		ENSG00000133138	ENSG00000133138	HGNC:24715													
TBX18	gene	TBX18	Expert Review Green	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Congenital anomalies of kidney and urinary tract 2, OMIM:143400				26235987		False	3	60;20;20	12.104	False		ENSG00000112837	ENSG00000112837	HGNC:11595													
TCTN1	gene	TCTN1	Expert Review Green;Expert list	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome				20301500;22693042;26489806;21725307;26477546;28631893		False	3	100;0;0	12.104	False		ENSG00000204852	ENSG00000204852	HGNC:26113													
TCTN2	gene	TCTN2	Orphanet;Expert Review Green;Expert list;Other	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Meckel syndrome;Joubert syndrome 24;Joubert syndrome, Meckel-Gruber syndrome				25118024;21565611		False	3	100;0;0	12.104	False		ENSG00000168778	ENSG00000168778	HGNC:25774													
TCTN3	gene	TCTN3	Expert Review Green;Expert list;Other	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome;Orofaciodigital syndrome IV;Joubert syndrome 18;Meckel-Gruber;Mohr-Majewski syndrome				25118024;22883145		False	3	100;0;0	12.104	False		ENSG00000119977	ENSG00000119977	HGNC:24519													
TMEM107	gene	TMEM107	Expert Review Green;Expert list	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Meckel syndrome 13 617562;?Joubert syndrome 29 617562;Orofaciodigital syndrome XVI 617563				26518474;26123494;22698544;26595381		False	3	0;0;0	12.104	False		ENSG00000179029	ENSG00000179029	HGNC:28128													
TMEM138	gene	TMEM138	Orphanet;Expert Review Green;Expert list;Other	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome with oculorenal defect;Joubert syndrome 16				22282472		False	3	100;0;0	12.104	False		ENSG00000149483	ENSG00000149483	HGNC:26944													
TMEM216	gene	TMEM216	Orphanet;Expert Review Green;Expert list;Other	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome: Meckel-Gruber syndrome;Joubert syndrome with oculorenal defect;Meckel syndrome;Joubert syndrome 2				22282472;20036350;20512146		False	3	100;0;0	12.104	False		ENSG00000187049	ENSG00000187049	HGNC:25018													
TMEM231	gene	TMEM231	Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;Expert list;Other;Emory Genetics Laboratory	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Meckel syndrome;Joubert syndrome 20;Joubert syndrome with oculorenal defect;Joubert syndrome 20, 614970;Meckel syndrome 11, 615397						False	3	0;0;0	12.104	False		ENSG00000205084	ENSG00000205084	HGNC:37234													
TMEM237	gene	TMEM237	Orphanet;Expert Review Green;Expert list;Other	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome;Joubert syndrome with oculorenal defect;Joubert syndrome 14				22152675;20301500		False	3	100;0;0	12.104	False		ENSG00000155755	ENSG00000155755	HGNC:14432													
TMEM67	gene	TMEM67	Expert Review Green;Expert	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Ciliopathy genes associated with cystic kidney disease						False	3	100;0;0	12.104	True		ENSG00000164953	ENSG00000164953	HGNC:28396													
TMEM67	gene	TMEM67	Orphanet;Eligibility statement prior genetic testing;Expert list;Expert Review Green;Other	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome;nephronophthisis;COACH syndrome;Joubert syndrome 6;?Bardet-Biedl syndrome?;Senior-Boichis syndrome;613550;607361;Meckel-Gruber syndrome;Meckel syndrome;610688;Nephronophthisis 11;216360				PMID: 16415887;PMID: 17160906;PMID: 19058225;PMID: 19508969;PMID: 20607301;PMID: 18327255		False	3	67;0;33	12.104	False		ENSG00000164953	ENSG00000164953	HGNC:28396													
TMEM67	gene	TMEM67	NHS GMS;Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	?RHYNS syndrome MIM 602152;COACH syndrome 216360 AR 3;{Bardet-Biedl syndrome 14, modifier of} MIM 615991;?RHYNS syndrome 602152 AR 3;COACH syndrome, MIM 216306;Joubert syndrome 6, MIM 610688;Nephronophthisis 11 MIM 613550;Meckel syndrome 3, MIM 607361						False	3	100;0;0	12.104	False		ENSG00000164953	ENSG00000164953	HGNC:28396													
TNS2	gene	TNS2	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	nephrotic syndrome				29773874		False	3	100;0;0	12.104	False		ENSG00000111077	ENSG00000111077	HGNC:19737													
TP53RK	gene	TP53RK	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Galloway-Mowat syndrome 4 #617730				28805828		False	3	100;0;0	12.104	False		ENSG00000172315	ENSG00000172315	HGNC:16197													
TPRKB	gene	TPRKB	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Galloway-Mowat syndrome 5, OMIM:617731				28805828;30053862		False	3	50;50;0	12.104	False		ENSG00000144034	ENSG00000144034	HGNC:24259													
TRAF3IP1	gene	TRAF3IP1	Expert Review Green;Orphanet	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Senior-Loken syndrome 9 616629				26487268		False	3	100;0;0	12.104	False		ENSG00000204104	ENSG00000204104	HGNC:17861													
TRAP1	gene	TRAP1	Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	CAKUT;VATER/VACTERL ASSOCIATION, OMIM:192350				24152966		False	3	67;33;0	12.104	False		ENSG00000126602	ENSG00000126602	HGNC:16264													
TRIM8	gene	TRIM8	Expert Review Green;Literature	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	nephrotic syndrome;epilepsy;Focal segmental glomerulosclerosis and neurodevelopmental syndrome, OMIM:619428				33508234;32531461;32193649;33508234		False	3	100;0;0	12.104	False	Other	ENSG00000171206	ENSG00000171206	HGNC:15579													
TRPC6	gene	TRPC6	NHS GMS;Expert Review Green;Eligibility statement prior genetic testing	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Glomerulosclerosis, focal segmental, 2 #603652;Proteinuria;FSGS;kidney failure;Familial and sporadic SRNS (adult)				15879175		False	3	100;0;0	12.104	True		ENSG00000137672	ENSG00000137672	HGNC:12338													
TRPM6	gene	TRPM6	Expert Review Green;NHS GMS;Expert list	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Hypomagnesemia 1, intestinal, 602014				12032568;12032570;23942199		False	3	100;0;0	12.104	False		ENSG00000119121	ENSG00000119121	HGNC:17995													
TSC1	gene	TSC1	Expert Review Green;Expert	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted					9242607		False	3	100;0;0	12.104	True		ENSG00000165699	ENSG00000165699	HGNC:12362													
TSC2	gene	TSC2	Expert Review Green;Expert	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown					 		False	3	100;0;0	12.104	True		ENSG00000103197	ENSG00000103197	HGNC:12363													
TTC21B	gene	TTC21B	NHS GMS;Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis 12, OMIM:613820				21258341;26940125;34957165;34805047;35289079		False	3	100;0;0	12.104	False		ENSG00000123607	ENSG00000123607	HGNC:25660													
TTC21B	gene	TTC21B	Expert Review Green;Orphanet;UKGTN;Expert list;Other;Emory Genetics Laboratory	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis 12, 613820;Short-rib thoracic dysplasia 4 with or without polydactyly;Jeune syndrome;Short-rib thoracic dysplasia 4 with or without polydactyly, 613819;Nephronophthisis				21258341;27515926 (functional study in C. elegans);21068128;24876116 (Focal segmental glomerulosclerosis)		False	3	100;0;0	12.104	False		ENSG00000123607	ENSG00000123607	HGNC:25660													
TTC21B	gene	TTC21B	Expert Review Green;Expert	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Ciliopathy genes associated with cystic kidney disease						False	3	100;0;0	12.104	True		ENSG00000123607	ENSG00000123607	HGNC:25660													
TTC8	gene	TTC8	Eligibility statement prior genetic testing;Expert list;Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Bardet Biedl syndrome 8				14520415		False	3	100;0;0	12.104	False		ENSG00000165533	ENSG00000165533	HGNC:20087													
TTR	gene	TTR	NHS GMS;Expert Review Green	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Amyloidosis, hereditary, transthyretin-related 105210				30328212;14640030;30878017;31131842;31118583;31111153;30120737		False	3	100;0;0	12.104	False		ENSG00000118271	ENSG00000118271	HGNC:12405													
TULP3	gene	TULP3	NHS GMS;Expert Review Green;Expert list	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Hepatorenocardiac degenerative fibrosis, OMIM:619902				30799239;30799240;35397207;36276950;36460032		False	3	100;0;0	12.104	False		ENSG00000078246	ENSG00000078246	HGNC:12425													
TXNDC15	gene	TXNDC15	Expert Review Green;Expert list;Expert Review Green;Expert list	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Meckel syndrome 14, OMIM:619879				27894351		False	3	0;100;0	12.104	False		ENSG00000113621	ENSG00000113621	HGNC:20652													
UMOD	gene	UMOD	NHS GMS;Expert Review Green	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Medullary cystic kidney disease 2 MIM 603860;Familial juvenile hyperuricemic nephropathy 1 MIM 162000				12471200;14569098		False	3	100;0;0	12.104	False	Other - please provide details in the comments	ENSG00000169344	ENSG00000169344	HGNC:12559													
UMOD	gene	UMOD	Expert Review Green;Expert;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;UKGTN	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Medullary Cystic Kidney Disease 2;Hyperuricemic nephropathy, familial juvenile 1, 162000						False	3	100;0;0	12.104	True		ENSG00000169344	ENSG00000169344	HGNC:12559													
UMOD	gene	UMOD	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hyperuricemic nephropathy, familial juvenile 1, 162000;Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886;Medullary cystic kidney disease 2, 603860				12471200;12629136;14570709;14569098;16883323;20172860;15983957		False	3	100;0;0	12.104	False		ENSG00000169344	ENSG00000169344	HGNC:12559													
VHL	gene	VHL	Expert Review Green;Expert	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown							False	3	100;0;0	12.104	True		ENSG00000134086	ENSG00000134086	HGNC:12687													
VIPAS39	gene	VIPAS39	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404				39736737;35151346;37202112;26019847;24071963;31479177		False	3	50;50;0	12.104	False		ENSG00000151445	ENSG00000151445	HGNC:20347													
VIPAS39	gene	VIPAS39	Expert Review Green;Expert Review	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404				20190753		False	3	100;0;0	12.104	False		ENSG00000151445	ENSG00000151445	HGNC:20347													
VIPAS39	gene	VIPAS39	Expert Review Green;Literature	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404				20190753		False	3	0;0;0	12.104	False		ENSG00000151445	ENSG00000151445	HGNC:20347													
VPS33B	gene	VPS33B	Expert Review Green;Literature	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Arthrogryposis, renal dysfunction, and cholestasis 1, OMIM:208085				15052268;22753090		False	3	0;0;0	12.104	False		ENSG00000184056	ENSG00000184056	HGNC:12712													
VPS33B	gene	VPS33B	Expert Review Green;Literature	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Arthrogryposis, renal dysfunction, and cholestasis 1, OMIM:208085				8151641;16155421;16896922		False	3	100;0;0	12.104	False		ENSG00000184056	ENSG00000184056	HGNC:12712													
WDPCP	gene	WDPCP	Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Emory Genetics Laboratory	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	?Bardet-Biedl syndrome 15, 615992;Meckel syndrome;?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085				20671153		False	3	0;0;100	12.104	False		ENSG00000143951	ENSG00000143951	HGNC:28027													
WDR19	gene	WDR19	Expert Review Green;Expert	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Ciliopathy genes associated with cystic kidney disease;Nephronophthisis 13, Senior-Loken				24504730, 25726036, 23683095, 22019273		False	3	100;0;0	12.104	True		ENSG00000157796	ENSG00000157796	HGNC:18340													
WDR19	gene	WDR19	NHS GMS;Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis 13 MIM 614377;?Cranioectodermal dysplasia 4, MIM 614378;?Short-rib thoracic dysplasia 5 with or without polydactyly, MIM 614376;Senior-Loken syndrome 8, MIM 616307						False	3	100;0;0	12.104	False		ENSG00000157796	ENSG00000157796	HGNC:18340													
WDR19	gene	WDR19	Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Other;Emory Genetics Laboratory	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis 13, 614377;?Short-rib thoracic dysplasia 5 with or without polydactyly;Senior-Loken syndrome 8, 616307;Cranioectodermal dysplasia;?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376;Jeune syndrome;Senior-Loken syndrome;?Cranioectodermal dysplasia 4, 614378;Nephronophthisis						False	3	0;0;0	12.104	False		ENSG00000157796	ENSG00000157796	HGNC:18340													
WDR35	gene	WDR35	Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Other;Emory Genetics Laboratory	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Cranioectodermal dysplasia 2, 613610;Cranioectodermal dysplasia;Short-rib thoracic dysplasia 7 with or without polydactyly;Short-rib thoracic dysplasia 7 with or without polydactyly, 614091						False	3	0;0;0	12.104	False		ENSG00000118965	ENSG00000118965	HGNC:29250													
WDR60	gene	WDR60	Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Other;Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Short-rib thoracic dysplasia 8 with or without polydactyly, 615503;Short-rib thoracic dysplasia 8 with or without polydactyly;Jeune syndrome;SHORT-RIB POLYDACTYLY				25492405;23910462;29271569;26874042		False	3	50;0;50	12.104	False		ENSG00000126870	ENSG00000126870	HGNC:21862													
WDR72	gene	WDR72	NHS GMS;Expert Review Green;Literature	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	distal RTA;hereditary distal renal tubular acidosis;distal renal tubular acidosis, MONDO:0015827;Amelogenesis imperfecta, type IIA3, OMIM:613211;amelogenesis imperfecta hypomaturation type 2A3, MONDO:0013181				30028003;30779877;31959358;33033857		False	3	100;0;0	12.104	False		ENSG00000166415	ENSG00000166415	HGNC:26790													
WDR72	gene	WDR72	Expert Review Green;NHS GMS;Expert list	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	distal renal tubular acidosis, MONDO:0015827;Amelogenesis imperfecta, type IIA3, OMIM:613211;amelogenesis imperfecta hypomaturation type 2A3, MONDO:0013181				30028003;30779877;31959358;33033857		False	3	100;0;0	12.104	False		ENSG00000166415	ENSG00000166415	HGNC:26790													
WDR72	gene	WDR72	Expert Review;NHS GMS;Expert Review Green	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	distal renal tubular acidosis, MONDO:0015827;Amelogenesis imperfecta, type IIA3, OMIM:613211;amelogenesis imperfecta hypomaturation type 2A3, MONDO:0013181				30028003;30779877;31959358;33033857		False	3	100;0;0	12.104	False		ENSG00000166415	ENSG00000166415	HGNC:26790													
WDR73	gene	WDR73	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Galloway-Mowat syndrome 1 #251300				26123727;25466283		False	3	100;0;0	12.104	False		ENSG00000177082	ENSG00000177082	HGNC:25928													
WNK4	gene	WNK4	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Pseudohypoaldosteronism, type IIB, 614491				11498583		False	3	100;0;0	12.104	False		ENSG00000126562	ENSG00000126562	HGNC:14544													
WT1	gene	WT1	NHS GMS;Expert Review Green;Eligibility statement prior genetic testing	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Denys-Drash syndrome #194080;Frasier syndrome #136680;Wilms tumor, type 1 #194070				24402088		False	3	100;0;0	12.104	True		ENSG00000184937	ENSG00000184937	HGNC:12796													
XDH	gene	XDH	Expert Review Green;Expert	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Xanthinuria, type I, 278300				27604308;9153281		False	3	0;0;0	12.104	False		ENSG00000158125	ENSG00000158125	HGNC:12805													
XPNPEP3	gene	XPNPEP3	NHS GMS;Expert Review Green;Expert	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis-like nephropathy 1 OMIM:613159;nephronophthisis-like nephropathy 1 MONDO:0013163				20179356;32660933		False	3	67;0;33	12.104	True		ENSG00000196236	ENSG00000196236	HGNC:28052													
XPNPEP3	gene	XPNPEP3	Expert Review Green;NHS GMS	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis-like nephropathy 1 OMIM:613159;nephronophthisis-like nephropathy 1 MONDO:0013163				20179356;32660933		False	3	50;50;0	12.104	False		ENSG00000196236	ENSG00000196236	HGNC:28052													
XPNPEP3	gene	XPNPEP3	NHS GMS;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Orphanet;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis-like nephropathy 1 OMIM:613159;nephronophthisis-like nephropathy 1 MONDO:0013163				20179356;32660933		False	3	67;0;33	12.104	False		ENSG00000196236	ENSG00000196236	HGNC:28052													
YRDC	gene	YRDC	Expert Review Green;Literature	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Galloway-Mowat syndrome MONDO:0009627				31481669		False	3	50;50;0	12.104	False		ENSG00000196449	ENSG00000196449	HGNC:28905													
ADAMTS13	gene	ADAMTS13	Expert Review Amber;Expert list	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150				9828245;12130486;12640381		False	2	0;100;0	12.104	False		ENSG00000160323	ENSG00000160323	HGNC:1366													
ADAMTS9	gene	ADAMTS9	NHS GMS;Expert Review Amber	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis-Related Ciliopathy (no OMIM number yet)				30609407		False	2	0;100;0	12.104	False		ENSG00000163638	ENSG00000163638	HGNC:13202													
ADAMTS9	gene	ADAMTS9	Expert Review Amber;Expert list	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis-Related Ciliopathy				30609407		False	2	100;0;0	12.104	False		ENSG00000163638	ENSG00000163638	HGNC:13202													
ANLN	gene	ANLN	NHS GMS;Expert Review Amber;Literature	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	"	Focal segmental glomerulosclerosis 8	616032"				24676636;30002222		False	2	0;50;50	12.104	False		ENSG00000011426	ENSG00000011426	HGNC:14082													
APOA4	gene	APOA4	Expert Review Amber;Literature	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Tubulointerstitial kidney disease, autosomal dominant 6, OMIM: 621106;tubulointerstitial kidney disease, autosomal dominant 6, MONDO:0976234;AApoAIV amyloidosis, MONDO:0018589				21900878;27262366;33751222;38096951;39699959		False	2	100;0;0	12.104	False		ENSG00000110244	ENSG00000110244	HGNC:602													
APOA4	gene	APOA4	Expert Review Amber;Literature	Unexplained young onset end-stage renal 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	12.104	False		ENSG00000110244	ENSG00000110244	HGNC:602													
APOC3	gene	APOC3	Expert Review Amber;NHS GMS	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted					26790392		False	2	100;0;0	12.104	False		ENSG00000110245	ENSG00000110245	HGNC:610													
APOL1	gene	APOL1	Expert Review Amber;NHS GMS;Eligibility statement prior genetic testing	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	{Focal Segmental Glomerulosclerosis 4, Susceptibility to} OMIM:612551;{End-stage renal disease, nondiabetic, susceptibility to} OMIM:612551				20647424;23766536;33517446		False	2	25;50;25	12.104	True	Other	ENSG00000100342	ENSG00000100342	HGNC:618													
B2M	gene	B2M	Expert Review Amber;NHS GMS	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	?Amyloidosis, familial visceral 105200				22693999		False	2	100;0;0	12.104	False		ENSG00000166710	ENSG00000166710	HGNC:914													
BBIP1	gene	BBIP1	Expert Review Amber;Expert list;Radboud University Medical Center, Nijmegen;UKGTN	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 18, OMIM:615995				24026985;32055034;37239474		False	2	50;50;0	12.104	False		ENSG00000214413	ENSG00000214413	HGNC:28093													
CEP290	gene	CEP290	Expert Review Amber;Expert	Unexplained young onset end-stage renal disease		Renal		Ciliopathy genes associated with cystic kidney disease						False	2	100;0;0	12.104	True		ENSG00000198707	ENSG00000198707	HGNC:29021													
CEP55	gene	CEP55	Expert Review Amber;Literature	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Meckel-like syndrome;autosomal recessive lethal ciliopathy;renal dysplasia				28295209;30622327;28264986		False	2	0;100;0	12.104	False		ENSG00000138180	ENSG00000138180	HGNC:1161													
CFHR5	gene	CFHR5	Expert Review Amber;Expert list	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Nephropathy due to CFHR5 deficiency, MIM#	614809"				22622361;20513133;30905589;29500241		False	2	0;100;0	12.104	False		ENSG00000134389	ENSG00000134389	HGNC:24668													
CFHR5	gene	CFHR5	Expert Review Amber;NHS GMS;Expert Review;Literature	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Nephropathy due to CFHR5 deficiency OMIM:614809				20800271;24067434;23402027		False	2	100;0;0	12.104	True	Other - please provide details in the comments	ENSG00000134389	ENSG00000134389	HGNC:24668													
COL4A3	gene	COL4A3	Expert Review Amber;Research	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	cystic kidney disease;proteinuria;haematuria				38178635;35602506		False	2	0;0;100	12.104	False		ENSG00000169031	ENSG00000169031	HGNC:2204													
COL4A4	gene	COL4A4	Expert Review Amber;Other	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cystic kidney disease, MONDO:0002473				31922066;38178635		False	2	50;50;0	12.104	False		ENSG00000081052	ENSG00000081052	HGNC:2206													
CST3	gene	CST3	Expert Review Amber;NHS GMS	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cerebral amyloid angiopathy 105150				2900981;3495457;1352269;3673496;7482672		False	2	100;0;0	12.104	False		ENSG00000101439	ENSG00000101439	HGNC:2475													
CYS1	gene	CYS1	Literature;Expert Review Amber	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Polycystic kidney disease, MONDO:0020642				34521872		False	2	0;100;0	12.104	False		ENSG00000205795	ENSG00000205795	HGNC:18525													
CYS1	gene	CYS1	Expert Review Amber;Literature	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Polycystic kidney disease, MONDO:0020642				34521872		False	2	0;100;0	12.104	False		ENSG00000205795	ENSG00000205795	HGNC:18525													
DCDC2	gene	DCDC2	Expert Review Amber;Orphanet;Expert list;Radboud University Medical Center, Nijmegen	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Neonatal sclerosing cholangitis;Nephronophthisis 19, 616217				25557784;22558177;27319779;27469900;31821705		False	2	0;60;40	12.104	False		ENSG00000146038	ENSG00000146038	HGNC:18141													
DCDC2	gene	DCDC2	NHS GMS;Expert Review Amber	Unexplained young onset end-stage renal 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	12.104	False		ENSG00000146038	ENSG00000146038	HGNC:18141													
EHHADH	gene	EHHADH	Expert Review Amber;NHS GMS;Expert	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	?Fanconi renotubular syndrome 3, OMIM:615605;L-bifunctional protein deficiency;Metabolic acidosis;Increased amino acids in urine				24401050;27160910		False	2	50;0;50	12.104	True	Other - please provide details in the comments	ENSG00000113790	ENSG00000113790	HGNC:3247													
EMP2	gene	EMP2	Expert Review Amber;NHS GMS;Literature	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	steroid sensitive nephrotic syndrome;Nephrotic syndrome, type 10 #615861				24814193		False	2	50;25;25	12.104	False		ENSG00000213853	ENSG00000213853	HGNC:3334													
ERCC1	gene	ERCC1	Expert Review Amber;Literature	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	hepatorenal syndrome, MONDO:0001382				40684071		False	2	100;0;0	12.104	False		ENSG00000012061	ENSG00000012061	HGNC:3433													
FOXI1	gene	FOXI1	NHS GMS;Expert Review Amber;Literature;Expert Review	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	deafness;renal tubular acidosis;Early onset sensorinerual deafness and distal renal tubular acidosis (no OMIM number);Enlarged vestibular aqueducts, 6007910				29242249		False	2	50;50;0	12.104	False		ENSG00000168269	ENSG00000168269	HGNC:3815													
FXYD2	gene	FXYD2	Expert Review Amber;NHS GMS	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hypomagnesemia 2, renal, 154020				11062458;25765846		False	2	100;0;0	12.104	False		ENSG00000137731	ENSG00000137731	HGNC:4026													
GLIS2	gene	GLIS2	NHS GMS;Expert Review Amber	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis 7 MIM 611498						False	2	0;100;0	12.104	False		ENSG00000126603	ENSG00000126603	HGNC:29450													
GNAS	gene	GNAS	Expert Review Amber;NHS GMS	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Unexplained hyponatremia in infancy, severe early-onset gonadotrophin-independent precocious puberty and skeletal abnormalities.				30312418		False	2	0;100;0	12.104	False		ENSG00000087460	ENSG00000087460	HGNC:4392													
JAG1	gene	JAG1	Expert Review Amber;Expert list	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Autosomal dominant tubulointerstitial kidney disease				41061854		False	2	100;0;0	12.104	False		ENSG00000101384	ENSG00000101384	HGNC:6188													
KANK2	gene	KANK2	Expert Review Amber;NHS GMS;Literature	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome;Nephrotic syndrome 16 #617783				25961457		False	2	50;50;0	12.104	True		ENSG00000197256	ENSG00000197256	HGNC:29300													
KAT2B	gene	KAT2B	Expert Review Amber;Literature	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	steroid-resistant nephrotic syndrome, MONDO:0044765				39366742;29768408		False	2	0;100;0	12.104	False		ENSG00000114166	ENSG00000114166	HGNC:8638													
KIF14	gene	KIF14	Expert Review Amber;Orphanet;Expert list;Radboud University Medical Center, Nijmegen;Other	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Meckel syndrome 12, OMIM:616258;Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552				24128419		False	2	33;67;0	12.104	False		ENSG00000118193	ENSG00000118193	HGNC:19181													
KIRREL1	gene	KIRREL1	Expert Review Amber;Literature	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	steroid-resistant nephrotic syndrome MONDO:0044765				31472902		False	2	0;100;0	12.104	False		ENSG00000183853	ENSG00000183853	HGNC:15734													
LAMA5	gene	LAMA5	Expert Review Amber;NHS GMS	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Nephrotic syndrome				29534211		False	2	0;50;50	12.104	False		ENSG00000130702	ENSG00000130702	HGNC:6485													
NEK1	gene	NEK1	Expert Review Amber;Expert list	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	"Short-rib thoracic dysplasia 6 with or without polydactyly, MIM#	263520"				21211617;22499340;25492405;28123176		False	2	50;50;0	12.104	False		ENSG00000137601	ENSG00000137601	HGNC:7744													
NLRP3	gene	NLRP3	Expert Review Amber;Expert list	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Muckle-Wells syndrome, OMIM:191900;Renal amyloidosis				11687797;28229991;27435956;31057541;30431487		False	2	100;0;0	12.104	False		ENSG00000162711	ENSG00000162711	HGNC:16400													
OFD1	gene	OFD1	Expert Review Amber;Expert	Unexplained young onset end-stage renal disease		Renal	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)					10910455;11179005		False	2	50;50;0	12.104	True		ENSG00000046651	ENSG00000046651	HGNC:2567													
PDIA6	gene	PDIA6	Expert Review Amber;Literature	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Polycystic kidney dysplasia, HP:0000113;Diabetes mellitus, HP:0000819;Microcephaly, HP:0000252				33495992;34487921;35856135;39044457;40974269		False	2	100;0;0	12.104	False		ENSG00000143870	ENSG00000143870	HGNC:30168													
PDIA6	gene	PDIA6	Expert Review Amber;Literature	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Asphyxiating thoracic dystrophy (ATD) syndrome and infantile onset diabetes;Polycystic kidney dysplasia, HP:0000113;Diabetes mellitus, HP:0000819;Microcephaly, HP:0000252				33495992;34487921;35856135;39044457;40974269		False	2	50;50;0	12.104	False		ENSG00000143870	ENSG00000143870	HGNC:30168													
PTPRO	gene	PTPRO	Expert Review Amber;NHS GMS;Eligibility statement prior genetic testing	Unexplained young onset end-stage renal disease		Renal		Nephrotic syndrome, type 6 #614196				21722858;30065916		False	2	33;67;0	12.104	True		ENSG00000151490	ENSG00000151490	HGNC:9678													
RCAN1	gene	RCAN1	Expert Review Amber;Literature	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	focal segmental glomerulosclerosis, MONDO:0100313;nephrotic syndrome, MONDO:0005377				33863784		False	2	0;100;0	12.104	False		ENSG00000159200	ENSG00000159200	HGNC:3040													
SCLT1	gene	SCLT1	Expert Review Amber;Expert list	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Orofaciodigital syndrome type IX;Senior-Loken syndrome				28486600;30425282;30237576;28005958;24285566		False	2	0;100;0	12.104	False		ENSG00000151466	ENSG00000151466	HGNC:26406													
SEC61A1	gene	SEC61A1	Expert list;Expert Review Amber;Expert Review	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	glomerulocystic kidney disease;interstitial nephritis;chronic kidney disease;cystic kidney disease;Hyperuricemic nephropathy, familial juvenile, 4, 617056				31488840;27392076		False	2	50;50;0	12.104	False		ENSG00000058262	ENSG00000058262	HGNC:18276													
SLC9A3R1	gene	SLC9A3R1	Expert Review Amber;Expert;Radboud University Medical Center, Nijmegen	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Nephrolithiasis/osteoporosis, hypophosphatemic, 2, 612287						False	2	100;0;0	12.104	True		ENSG00000109062	ENSG00000109062	HGNC:11075													
TMEM17	gene	TMEM17	Expert Review Amber;Literature	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Meckel syndrome, MONDO:0018921;orofaciodigital syndrome type 6, MONDO:0010176;Joubert syndrome, MONDO:0018772				26982032;32055034;40841990;41054827		False	2	100;0;0	12.104	False		ENSG00000186889	ENSG00000186889	HGNC:26623													
TMEM17	gene	TMEM17	Expert Review Amber;Literature	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Meckel syndrome, MONDO:0018921;orofaciodigital syndrome type 6, MONDO:0010176;Joubert syndrome, MONDO:0018772				26982032;32055034;40841990;41054827		False	2	100;0;0	12.104	False		ENSG00000186889	ENSG00000186889	HGNC:26623													
TMEM72	gene	TMEM72	Expert Review Amber;Literature	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	nephronophthisis, MONDO:0019005				41308066		False	2	100;0;0	12.104	False		ENSG00000187783	ENSG00000187783	HGNC:31658													
TMEM72	gene	TMEM72	Expert Review Amber;Literature	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	nephronophthisis, MONDO:0019005				41308066		False	2	100;0;0	12.104	False		ENSG00000187783	ENSG00000187783	HGNC:31658													
TMEM72	gene	TMEM72	Expert Review Amber;Literature	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	nephronophthisis, MONDO:0019005				41308066		False	2	100;0;0	12.104	False		ENSG00000187783	ENSG00000187783	HGNC:31658													
TTC26	gene	TTC26	Expert Review Amber;Literature	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Biliary, renal, neurologic, and skeletal syndrome, OMIM:619534;biliary, renal, neurologic, and skeletal syndrome, MONDO:0859191				31595528;32617964;34177428;38135897;39514123		False	2	100;0;0	12.104	False		ENSG00000105948	ENSG00000105948	HGNC:21882													
WNK1	gene	WNK1	Expert Review Amber;NHS GMS	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Pseudohypoaldosteronism, type IIC, OMIM:614492				11498583		False	2	100;0;0	12.104	False		ENSG00000060237	ENSG00000060237	HGNC:14540													
ZNF423	gene	ZNF423	Expert Review Amber;Expert	Unexplained young onset end-stage renal disease		Renal	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Joubert syndrome 19, OMIM:614844;Nephronophthisis 14, OMIM:614844				22863007;32925911;33323469		False	2	0;100;0	12.104	True		ENSG00000102935	ENSG00000102935	HGNC:16762													
ZNF423	gene	ZNF423	Orphanet;Radboud University Medical Center, Nijmegen;Expert Review Amber;Expert list;Other;Emory Genetics Laboratory	Unexplained young onset end-stage renal disease		Renal	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Joubert syndrome 19, OMIM:614844;Nephronophthisis 14, OMIM:614844				22863007;32925911;33323469		False	2	0;50;50	12.104	False		ENSG00000102935	ENSG00000102935	HGNC:16762													
ZNF423	gene	ZNF423	Expert Review Amber;NHS GMS	Unexplained young onset end-stage renal disease		Renal	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Joubert syndrome 19, OMIM:614844;Nephronophthisis 14, OMIM:614844				22863007		False	2	100;0;0	12.104	False		ENSG00000102935	ENSG00000102935	HGNC:16762													
ISCA-37401-Loss	region		Expert Review Green	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Wilms tumor, aniridia, genitourinary anomalies and impaired intellectual development syndrome, OMIM:194072						False	3	100;0;0	12.104	False					11			31781961	32489442				3		60	cnv_loss	11p13 (WAGR syndrome) region Loss
ISCA-37405-Loss	region		Expert Review Green;ClinGen	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	juvenile nephronophthisis 1: including growth retardation.  Joubert syndrome: multisystem disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (resulting in the 'molar tooth sign,' or MTS, on axial MRI), mental retardation, hypotonia, irregular breathing pattern, and eye movement abnormalities;266900;609583				9856524;15138899;8852662		False	3	0;0;0	12.104	False					2			110104531	110228181				30		60	cnv_loss	2q13 recurrent region (includes NPHP1) Loss
ISCA-37405-Loss	region		Expert Review Green;ClinGen	Unexplained young onset end-stage renal disease		Renal	BIALLELIC, autosomal or pseudoautosomal	609583;juvenile nephronophthisis 1: including growth retardation.  Joubert syndrome: multisystem disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (resulting in the 'molar tooth sign,' or MTS, on axial MRI), mental retardation, hypotonia, irregular breathing pattern, and eye movement abnormalities;266900				8852662;9856524;15138899		False	3	0;0;0	12.104	False					2			110104531	110228181				30		60	cnv_loss	2q13 recurrent region (includes NPHP1) Loss
ISCA-37432-Loss	region		Expert Review Green;ClinGen	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	RCAD syndrome;utero-vaginal atresia;Schizophrenia;614527;delayed development, intellectual disability;Renal cysts and diabetes syndrome;Autism Spectrum Disorder;Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females;Chromosome 17q12 deletion syndrome;global developmental delay						False	3	0;0;0	12.104	False					17			36458167	37854616				3		60	cnv_loss	17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss
ISCA-37432-Loss	region		Expert Review Green;ClinGen	Unexplained young onset end-stage renal disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Schizophrenia;Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females;delayed development, intellectual disability;614527;RCAD syndrome;utero-vaginal atresia;Chromosome 17q12 deletion syndrome;Autism Spectrum Disorder;global developmental delay;Renal cysts and diabetes syndrome						False	3	0;0;0	12.104	False					17			36458167	37854616				3		60	cnv_loss	17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss