Unexplained kidney failure in young people (Version 1.118)

Description

Unexplained kidney failure in young people eligibility statement:

Unexplained kidney failure in young people inclusion criteria (36894)
•	Requirement for renal replacement therapy (dialysis or kidney transplantation) at age < 50 years in the absence of an identified cause

Recruitment guidance:
•	Unaffected individuals have undergone appropriate screening for cryptic disease
•	Individuals with paediatric onset of kidney failure or evidence of syndromic disease should be recruited according to standard guidance.
•	In other cases, unaffected individuals should not be recruited.
•	Recruitment in such families should favour families with multiple affected individuals available to participate in the study over singletons. These singleton recruits will not contribute to the overall singleton monitoring metrics applied per GMC but will be capped across the study at one third of the total genomes for the disorder.

Unexplained kidney failure in young people exclusion criteria (36894)
•	Likely or proven diabetic nephropathy
•	Likely or proven renovascular disease
•	Identified glomerular disorder on kidney biopsy (other than glomerulocystic disease, ischaemic changes or secondary glomerulosclerosis)
•	Evidence autoimmune, infectious, malignant, metabolic or other systemic disorder likely to be responsible for kidney disease
•	Renal sarcoidosis or tuberculosis
•	Paraproteinaemia (unless kidney biopsy shows no evidence of renal monoclonal deposition)
•	Exposure to nephrotoxin (drug or toxin) suspected of causing renal dysfunction
•	Obstructive uropathy
•	Significant proteinuria (>1g/day; uPCR >100) at presentation (see proteinuric renal disease inclusion criteria)
•	Identified tubular/electrolyte/acid base disorder (see RTA/electrolyte disorder eligibility criteria)
•	>5 kidney cysts (see cystic renal disease eligibility statement)
•	Nephrolithiasis (see renal stone disease eligibility criteria)
•	Congenital anomaly of kidney and urinary tract including reflux nephropathy (see CAKUT eligibility criteria)

Prior genetic testing guidance (36894)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Unexplained kidney failure in young people prior genetic testing genes (36894)

Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice:
 
•	If personal or family history of gout under age of 30 in the absence of CKD stage 3, 4 or 5: UMOD
•	If diabetes: HNF1B

Closing statement (36894)
These requirements will be kept under continual review during the main programme and may be subject to change.

Panel Activity

15 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
John Sayer (Newcastle University)

Group: GeCIP domain
Workplace: NHS clinical service
Daniel Gale (UCL)

Group: GeCIP domain
Workplace: Research lab
Fiona Karet (Universit y of Cambridge)

Group: GeCIP domain
Workplace: NHS clinical service
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Rebecca Foulger (Genomics England curator)

Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Anna de Burca (Genomics England Curator)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)

Group: Other NHS organisation
Workplace: NHS diagnostic lab
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Yu Leng Phua (Icahn School of Medicine at Mount Sinai and ClinGen)

Group: Other
Workplace: Other diagnostic lab
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other

173 Entities

95 reviewed, 88 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 173 Entitiess
Green Green List (high evidence)	ACE	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Renal Tubular Dysgenesis 267430 Tags
Green Green List (high evidence)	ACTG2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Visceral myopathy (Megacystis-microcolon intestinal hypoperistalsis syndrome, Berdon syndrome) 155310 Tags
Green Green List (high evidence)	ACTN4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Glomerulosclerosis, focal segmental, 1 603278 Tags
Green Green List (high evidence)	AGT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Renal tubular dysgenesis, 267430 Tags
Green Green List (high evidence)	AGTR1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Renal tubular dysgenesis, 267430 Tags
Green Green List (high evidence)	AMN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Megaloblastic anemia-1, Norwegian type 261100 Tags
Green Green List (high evidence)	ANKS6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nephronophthisis 16 615382 Tags
Green Green List (high evidence)	ARHGDIA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Review Green Phenotypes Nephrotic syndrome, type 8 615244 Tags
Green Green List (high evidence)	C3	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes C3 deficiency 613779 AR {Hemolytic uremic syndrome, atypical, susceptibility to, 5} 612925 AD Tags
Green Green List (high evidence)	CD46	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 2 612922 Tags
Green Green List (high evidence)	CEP164	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nephronophthisis 15 614845 Tags
Green Green List (high evidence)	CFB	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 4 612924 Tags
Green Green List (high evidence)	CFH	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Complement factor H deficiency 609814 {Hemolytic uremic syndrome, atypical, susceptibility to, 1} 235400 Tags
Green Green List (high evidence)	CFHR5	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Literature Phenotypes 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 Tags
Green Green List (high evidence)	CFI	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 3, OMIM:612923 Complement factor I deficiency, OMIM:610984 Tags
Green Green List (high evidence)	CHD7	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes CHARGE syndrome 214800 Tags
Green Green List (high evidence)	CHRM3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Prune belly syndrome, OMIM:100100 Megacystis Urinary Bladder Disease Tags
Green Green List (high evidence)	CLCN5	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Dent disease, 300009 Nephrolithiasis, type I, 310468 Hypophosphatemic rickets, 300554 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 Tags
Green Green List (high evidence)	COL4A3	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Alport syndrome, autosomal recessive, 203780 Hematuria, benign familial, 141200 Alport syndrome, autosomal dominant, 104200 Tags
Green Green List (high evidence)	COL4A4	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Alport syndrome 2, autosomal recessive, OMIM:203780 Hematuria,familial benign, OMIM:141200 Tags
Green Green List (high evidence)	COL4A5	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Eligibility statement prior genetic testing Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Alport syndrome 301050 Tags
Green Green List (high evidence)	COQ2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Coenzyme Q10 deficiency, primary, 1, OMIM:607426 Tags
Green Green List (high evidence)	COQ6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Coenzyme Q10 deficiency, primary, 6 614650 Tags
Green Green List (high evidence)	COQ8B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Nephrotic syndrome, type 9 615573 Tags
Green Green List (high evidence)	CTNS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Cystinosis, atypical nephropathic 219800 Cystinosis, late-onset juvenile or adolescent nephropathic 219900 Cystinosis, nephropathic 219800 Tags
Green Green List (high evidence)	CUBN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Megaloblastic anemia-1, Finnish type, (originally on the Imerslund-Grasbeck syndrome gene panel) 261100 Tags
Green Green List (high evidence)	DGKE	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nephrotic syndrome, type 7 615008 {Hemolytic uremic syndrome, atypical, susceptibility to, 7} 615008 Tags
Green Green List (high evidence)	DSTYK	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes {Congenital anomalies of kidney and urinary tract, susceptibility to} 610805 Tags
Green Green List (high evidence)	EYA1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Branchiootorenal syndrome 1, with or without cataracts 113650 Tags
Green Green List (high evidence)	FAN1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes interstitial nephritis chronic kidney disease Interstitial nephritis, karyomegalic 614817 Tags
Green Green List (high evidence)	FRAS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fraser syndrome 219000 Tags
Green Green List (high evidence)	FREM1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Bifid nose with or without anorectal and renal anomalies, 608980 Tags
Green Green List (high evidence)	FREM2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fraser syndrome 219000 Tags
Green Green List (high evidence)	GATA3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 Tags
Green Green List (high evidence)	GLA	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Expert Review Green Phenotypes renal insufficiency renal failure Fabry disease, 301500 Tags
Green Green List (high evidence)	GLI3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Pallister-Hall syndrome 146510 Tags
Green Green List (high evidence)	GRIP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Fraser syndrome 219000 Tags
Green Green List (high evidence)	HNF1B	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Diabetes mellitus, noninsulin-dependent 125853 Renal cysts and diabetes syndrome 137920 {Renal cell carcinoma} 144700 Tags
Green Green List (high evidence)	HPSE2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Urofacial syndrome 1 236730 Tags
Green Green List (high evidence)	INF2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Charcot-Marie-Tooth disease, dominant intermediate E 614455 Glomerulosclerosis, focal segmental, 5 613237 Tags
Green Green List (high evidence)	INVS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nephronophthisis 2, infantile 602088 Tags
Green Green List (high evidence)	11p13 (WAGR syndrome) region Loss ISCA-37401-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome 194072 Tags
Green Green List (high evidence)	2q13 recurrent region (includes NPHP1) Loss ISCA-37405-Loss Region	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes 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 Tags
Green Green List (high evidence)	17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss ISCA-37432-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes 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 Tags
Green Green List (high evidence)	ITGA3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 614748 Tags
Green Green List (high evidence)	ITGA8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Renal hypodysplasia/aplasia 1, 191830 Tags
Green Green List (high evidence)	LAMB2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nephrotic syndrome, type 5, with or without ocular abnormalities 614199 Pierson syndrome 609049 Tags
Green Green List (high evidence)	LMX1B	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nail-patella syndrome 161200 Tags
Green Green List (high evidence)	LRIG2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Urofacial syndrome 2 615112 Tags
Green Green List (high evidence)	MUC1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Medullary cystic kidney disease 1 174000 Tags
Green Green List (high evidence)	MYH9	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Epstein syndrome 153650 Fechtner syndrome 153640 Tags
Green Green List (high evidence)	MYO1E	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Glomerulosclerosis, focal segmental, 6 614131 Tags
Green Green List (high evidence)	NPHP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Joubert syndrome 4 609583 Nephronophthisis 1, juvenile 256100 Senior-Loken syndrome-1 266900 Tags
Green Green List (high evidence)	NPHP3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nephronophthisis 3, 604387 Renal-hepatic-pancreatic dysplasia 1, 208540 Meckel syndrome 7, 267010 Tags
Green Green List (high evidence)	NPHP4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nephronophthisis 4 606966 Senior-Loken syndrome 4 606996 Tags
Green Green List (high evidence)	NPHS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nephrotic syndrome, type 1 256300 Tags
Green Green List (high evidence)	NPHS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nephrotic syndrome, type 2 600995 Tags
Green Green List (high evidence)	NUP107	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Nephrotic syndrome, type 11 616730 Tags
Green Green List (high evidence)	NUP93	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Nephrotic syndrome, type 12 616892 Tags
Green Green List (high evidence)	OFD1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Joubert syndrome 10 300804 Simpson-Golabi-Behmel syndrome, type 2 300209 XLR Tags
Green Green List (high evidence)	PAX2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Glomerulosclerosis, focal segmental, 7 616002 Papillorenal syndrome 120330 Tags
Green Green List (high evidence)	PKD1	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Polycystic kidney disease, adult type I, 173900 Autosomal recessive polycystic kidney disease (ARPKD) Autosomal dominant polycystic kidney disease (ADPKD) Tags
Green Green List (high evidence)	PKD2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Polycystic kidney disease 2, 613095 Tags
Green Green List (high evidence)	PKHD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Polycystic kidney and hepatic disease, 263200 Tags
Green Green List (high evidence)	PLCE1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nephrotic syndrome, type 3 610725 Tags
Green Green List (high evidence)	REN	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Hyperuricemic nephropathy, familial juvenile 2 613092 Renal tubular dysgenesis 267430 [Hyperproreninemia] Tags
Green Green List (high evidence)	RPGRIP1L	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes COACH syndrome 216360 Joubert syndrome 7 611560 Meckel syndrome 5 611561 Tags
Green Green List (high evidence)	RRM2B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075 Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075 Tags
Green Green List (high evidence)	SALL1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Townes-Brocks syndrome, 107480 Townes-Brocks branchiootorenal-like syndrome, 107480 Tags
Green Green List (high evidence)	SARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 613845 Progressive Spastic Paresis Tags
Green Green List (high evidence)	SCARB2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Epilepsy, progressive myoclonic 4, with or without renal failure 254900 Tags
Green Green List (high evidence)	SGPL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Nephrotic syndrome 14 617575 Tags
Green Green List (high evidence)	SIX5	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Branchiootorenal syndrome 2, 610896 Tags
Green Green List (high evidence)	SMARCAL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Schimke immunoosseous dysplasia, OMIM:242900 Tags
Green Green List (high evidence)	TBX18	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Congenital anomalies of kidney and urinary tract 2 143400 Tags
Green Green List (high evidence)	TMEM67	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes COACH syndrome 216360 Joubert syndrome 6 610688 Meckel syndrome 3 607361 Nephronophthisis 11 613550 {Bardet-Biedl syndrome 14, modifier of} 615991 Tags
Green Green List (high evidence)	TRAP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes CAKUT VACTERL 192350 Tags gene-checked
Green Green List (high evidence)	TRIM8	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes nephrotic syndrome epilepsy Focal segmental glomerulosclerosis and neurodevelopmental syndrome, OMIM:619428 Tags
Green Green List (high evidence)	TRPC6	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Glomerulosclerosis, focal segmental, 2 603965 Tags
Green Green List (high evidence)	TSC1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Tuberous sclerosis-1 191100 Tags
Green Green List (high evidence)	TSC2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Tuberous sclerosis-2 613254 Tags
Green Green List (high evidence)	TTC21B	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nephronophthisis 12 613820 Tags watchlist_moi
Green Green List (high evidence)	UMOD	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert list Expert Review Expert Review Green Illumina TruGenome Clinical Sequencing Services Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886 Hyperuricemic nephropathy, familial juvenile 1 162000 Medullary cystic kidney disease 2 603860 Tags
Green Green List (high evidence)	VHL	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes von Hippel-Lindau syndrome 193300 Tags
Green Green List (high evidence)	VIPAS39	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 Tags
Green Green List (high evidence)	VPS33B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1 208085 Tags
Green Green List (high evidence)	WT1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nephrotic syndrome, type 4 256370 Tags
Green Green List (high evidence)	XPNPEP3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Phenotypes Nephronophthisis-like nephropathy 1 OMIM:613159 nephronophthisis-like nephropathy 1 MONDO:0013163 Tags
Amber Amber List (moderate evidence)	APRT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes interstitial nephritis chronic kidney disease end stage renal disease nephrolithiaisis Adenine phosphoribosyltransferase deficiency 614723 Tags
Amber Amber List (moderate evidence)	CD151	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert Review Amber Phenotypes Nephropathy with pretibial epidermolysis bullosa and deafness 609057 Tags
Red Red List (low evidence)	ACTA2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red Phenotypes Multi system smooth muscle dysfunction Tags
Red Red List (low evidence)	AHI1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Joubert syndrome-3 608629 Tags
Red Red List (low evidence)	ALG1	0 reviews	Not set	Sources Eligibility statement prior genetic testing Tags
Red Red List (low evidence)	ALMS1	0 reviews	Not set	Sources Eligibility statement prior genetic testing Tags
Red Red List (low evidence)	ANOS1	4 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700 Tags
Red Red List (low evidence)	APOL1	0 reviews	Not set	Sources Eligibility statement prior genetic testing Tags
Red Red List (low evidence)	ARHGAP24	0 reviews	Not set	Sources Eligibility statement prior genetic testing Tags
Red Red List (low evidence)	ARL13B	0 reviews	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	ARL6	0 reviews	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	BBS1	0 reviews	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	BBS10	0 reviews	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	BBS12	0 reviews	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	BBS2	0 reviews	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	BBS4	0 reviews	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	BBS5	0 reviews	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	BBS9	0 reviews	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	BICC1	0 reviews	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes {Renal dysplasia, cystic, susceptibility to}, 601331 Tags
Red Red List (low evidence)	BMP4	0 reviews	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	BSND	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Bartter syndrome, type 4a, 602522 Sensorineural deafness with mild renal dysfunction, 602522 Tags
Red Red List (low evidence)	C5orf42	1 review	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags new-gene-name
Red Red List (low evidence)	CC2D2A	0 reviews	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	CCDC28B	0 reviews	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	CD2AP	0 reviews	Not set	Sources Eligibility statement prior genetic testing Tags
Red Red List (low evidence)	CEP290	0 reviews	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	CEP41	0 reviews	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	COL4A6	0 reviews	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5 Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4) diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5 Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4) (originally on Alport syndrome gene panel) Tags
Red Red List (low evidence)	COX10	0 reviews	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046 Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due tocytochrome c oxidase deficiency Tags
Red Red List (low evidence)	CYP11B2	0 reviews	Not set	Sources Eligibility statement prior genetic testing Tags
Red Red List (low evidence)	DACT1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Other Phenotypes ?Townes-Brocks syndrome 2,617466 TBS2 Tags
Red Red List (low evidence)	DHFR	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 (originally on the Imerslund-Grasbeck syndrome gene panel) Tags
Red Red List (low evidence)	DLG3	0 reviews	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	E2F3	0 reviews	Not set	Sources Eligibility statement prior genetic testing Tags
Red Red List (low evidence)	FOXC1	0 reviews	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	FOXC2	0 reviews	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	GDNF	0 reviews	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	GIF	1 review	Not set	Sources Imerslund-Grasbeck syndrome eligibility statement prior genetic testing Phenotypes GIF mutations may phenocopy this disorder (originally on the Imerslund-Grasbeck syndrome gene panel) Tags new-gene-name
Red Red List (low evidence)	GLIS2	0 reviews	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	GREM1	0 reviews	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	HCN3	0 reviews	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	INPP5E	0 reviews	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	IQCB1	0 reviews	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	ITGB4	0 reviews	Not set	Sources Eligibility statement prior genetic testing Tags
Red Red List (low evidence)	KANK2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome Tags
Red Red List (low evidence)	KIF7	0 reviews	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	KIT	0 reviews	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	MKS1	0 reviews	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	MTR	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (originally on the Imerslund-Grasbeck syndrome gene panel) Tags
Red Red List (low evidence)	MTRR	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Homocystinuria-megaloblastic anemia, cbl E type, 236270 (originally on the Imerslund-Grasbeck syndrome gene panel) Tags
Red Red List (low evidence)	MYH11	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome Tags
Red Red List (low evidence)	NEK8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Ciliopathy genes associated with cystic kidney disease ?Nephronophthisis 9, 613824?Renal-hepatic-pancreatic dysplasia 2, 615415 Tags
Red Red List (low evidence)	OCRL	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red UKGTN Tags
Red Red List (low evidence)	PDSS2	0 reviews	Not set	Sources Eligibility statement prior genetic testing Tags
Red Red List (low evidence)	PMM2	0 reviews	Not set	Sources Eligibility statement prior genetic testing Tags
Red Red List (low evidence)	PRKCSH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	PTPRO	0 reviews	Not set	Sources Eligibility statement prior genetic testing Tags
Red Red List (low evidence)	RET	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Renal Adysplasia Multiple endocrine neoplasia IIA, 171400 Medullary thyroid carcinoma, 155240 Multiple endocrine neoplasia IIB, 162300 Central hypoventilation syndrome, congenital, 209880 Pheochromocytoma, 171300 Renal agenesis, 191830 {Hirschsprung disease, susceptibility to, 1}, 142623 Tags
Red Red List (low evidence)	ROBO2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Vesicoureteral reflux 2, 610878 Vesicoureteral Reflux Tags
Red Red List (low evidence)	SDCCAG8	0 reviews	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	SEC63	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	SHH	0 reviews	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	SIX1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Phenotypes Branchiootorenal Spectrum Disorders Tags
Red Red List (low evidence)	SLC19A2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Thiamine-Responsive Megaloblastic Anemia Thiamine-responsive megaloblastic anemia syndrome, 249270 (originally on the Imerslund-Grasbeck syndrome gene panel) Tags
Red Red List (low evidence)	SLC19A3	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive (originally on the Imerslund-Grasbeck syndrome gene panel) Tags
Red Red List (low evidence)	SLIT2	0 reviews	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	SMARCA4	0 reviews	Unknown	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	SOX17	0 reviews	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Vesicoureteral reflux 3, 613674 Tags
Red Red List (low evidence)	SPRY1	0 reviews	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	TCTN1	0 reviews	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	TCTN3	0 reviews	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	TMEM138	0 reviews	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	TMEM216	0 reviews	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	TMEM231	0 reviews	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	TMEM237	0 reviews	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	TNXB	0 reviews	Not set	Sources Expert list Tags
Red Red List (low evidence)	TRIM32	0 reviews	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	TSHZ3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	TTC8	0 reviews	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	UPK2	0 reviews	Other - please specifiy in evaluation comments	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	UPK3A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Phenotypes Renal Adysplasia Tags
Red Red List (low evidence)	WDPCP	0 reviews	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	WDR19	0 reviews	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	ZMPSTE24	0 reviews	Not set	Sources Eligibility statement prior genetic testing Tags
Red Red List (low evidence)	ZNF423	0 reviews	Not set	Sources Expert Expert Review Red Phenotypes Joubert syndrome 19, OMIM:614844 Nephronophthisis 14, OMIM:614844 Tags

Unexplained kidney failure in young people (Version 1.118)

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