CAKUT (Version 1.177)

Description

CAKUT inclusion criteria

- CAKUT with syndromic manifestations in other organ systems, OR
- Isolated CAKUT with a first degree relative with CAKUT or unexplained ESKD, OR
- Multiple distinct renal/urinary tract abnormalities or CAKUT with unexplained ESKD before age 25
- Unaffected individuals have undergone appropriate investigation for cryptic disease e.g. renal ultrasound scan - Individuals with severe or syndromic disease should be recruited according to standard guidance, preferably as trios
- In other cases, unaffected individuals should not be recruited. Recruitment in such families should favour multiplex families over single isolated cases. These singleton recruits will not contribute to the overall singleton monitoring metrics applied to GMCs.

CAKUT exclusion criteria
- Clinical or molecular diagnosis of autosomal dominant or autosomal recessive polycystic kidney disease - Known causative genetic or chromosomal abnormality

Prior genetic testing guidance
- 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.

CAKUT prior genetic testing genes
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice:
- HNF1B if personal or family history of diabetes mellitus
- SALL1 if 2 out of imperforate anus, ear abnormalities, thumb abnormalities

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

Panel Activity

20 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Bill Newman (Manchester Centre for Genomic Medicine)

Group: other
Workplace: other
Sian Ellard (University of Exeter Medical School)

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

Group: GeCIP domain
Workplace: NHS clinical service
Helen Stuart (University of Manchester)

Group: GeCIP domain
Workplace: NHS clinical service
Olivia Niblock (Genomics England Curator)

Group: Other
Workplace: Other
Adrian Woolf (Professor of Paediatric Scicence, Univerisity of Manchester)

Group: Other
Workplace: Research lab
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
chirag patel (Genetic Health Queensland)

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

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

Group: Other
Workplace: Other clinical service
Detlef Bockenhauer (GOSH-UCL)

Group: GeCIP domain
Workplace: NHS clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Alistair Pagnamenta (University of Oxford)

Group: GeCIP domain
Workplace: Research lab
Rhiannon Mellis (Great Ormond Street Hospital)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Catherine Snow (Genomics England)

Group: Other
Workplace: Other
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Laura Claus (UMC Utrecht)

Group: GeCIP domain
Workplace: Research lab

102 Entities

102 reviewed, 60 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 102 Entitiess
Green Green List (high evidence)	ACE	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Renal Tubular Dysgenesis {Myocardial infarction, susceptibility to}{Alzheimer disease, susceptibility to}, 104300{Microvascular complications of diabetes 3}, 612624[Angiotensin I-converting enzyme, benign serum increase]{SARS, progression of}Renal tubular Tags
Green Green List (high evidence)	ACTG2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Megacystis-microcolon intestinal hypoperistalsis syndrome visceral myopathy Berdon syndrome Tags
Green Green List (high evidence)	AGT	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Renal Tubular Dysgenesis {Hypertension, essential, susceptibility to}, 145500{Preeclampsia, susceptibility to}Renal tubular dysgenesis, 267430 Tags
Green Green List (high evidence)	AGTR1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Renal Tubular Dysgenesis Hypertension, essential, 145500 Renal tubular dysgenesis, 267430 Tags
Green Green List (high evidence)	ANOS1	5 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Green Phenotypes Kallman syndrome Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) Tags
Green Green List (high evidence)	BNC2	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Posterior urethral valves PUV Congenital lower urinary-tract obstruction Lower urinary tract obstruction, congenital, 618612 Tags
Green Green List (high evidence)	CEP55	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500 MARCH syndrome Meckel-like syndrome lethal CEP55-related syndromes Tags
Green Green List (high evidence)	CHD7	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes CHARGE syndrome Tags
Green Green List (high evidence)	CHRM3	4 reviews 1 green 1 red	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)	CHRNA3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes CAKUT dysautonomia Tags
Green Green List (high evidence)	CTU2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes DREAM‐PL syndrome Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142 Tags
Green Green List (high evidence)	DHCR7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Smith-Lemli-Opitz syndrome, 270400 renal agenesis Tags
Green Green List (high evidence)	DSTYK	5 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Renal hypodysplasia ureteropelvic junction obstruction vesicoureteric reflux CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1 {Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805 Tags
Green Green List (high evidence)	EYA1	3 reviews 3 green	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 Anterior segment anomalies with or without cataract, 113650 Branchiootic syndrome 1, 602588 Otofaciocervical syndrome, 166780 Branchiootorenal Spectrum Disorders Tags
Green Green List (high evidence)	FAM58A	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 Green Phenotypes STAR syndrome, 300707 Syndactyly, Telecanthus, Anogenital malformations and Renal malformations Tags
Green Green List (high evidence)	FRAS1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Fraser syndrome Tags
Green Green List (high evidence)	FREM1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Bifid nose with or without anorectal and renal anomalies, 608980 Tags
Green Green List (high evidence)	FREM2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Fraser syndrome Tags
Green Green List (high evidence)	GATA3	2 reviews 2 green	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 Disease Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 Tags
Green Green List (high evidence)	GLI3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Pallister-Hall syndrome, OMIM:146510 Tags
Green Green List (high evidence)	GPC3	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Simpson-Golabi-Behmel syndrome, type 1 312870 Tags
Green Green List (high evidence)	GREB1L	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Renal hypodysplasia/aplasia 3, 617805 Tags gene-checked
Green Green List (high evidence)	GRIP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Fraser syndrome isolated CAKUT Tags
Green Green List (high evidence)	HAAO	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Multiple congenital malformations VACTERL-like phenotype Tags treatable
Green Green List (high evidence)	HNF1B	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Expert Review Green Phenotypes Renal cysts and diabetes syndrome Diabetes mellitus, noninsulin-dependent Tags
Green Green List (high evidence)	HOXA13	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Hand-foot-uterus syndrome, 140000 Tags
Green Green List (high evidence)	HPSE2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Urofacial Syndrome Congenital bladder disease: dyssynergic, high pressure bladder 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)	ITGA8	3 reviews 2 green	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)	JAG1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Alagille syndrome 1, OMIM:118450 Tags
Green Green List (high evidence)	KDM6A	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 Green Phenotypes Kabuki syndrome 2, 300867 Tags
Green Green List (high evidence)	KMT2D	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Kabuki syndrome 1, 147920 Tags
Green Green List (high evidence)	KYNU	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism) ?Hydroxykynureninuria, 236800 multiple congenital malformations VACTERL-like phenotype Tags treatable
Green Green List (high evidence)	LIFR	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes CAKUT Tags
Green Green List (high evidence)	LRIG2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Urofacial syndrome Congenital bladder disease: dyssynergic, high pressure bladder. Tags
Green Green List (high evidence)	LRP4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cenani-Lenz syndactyly syndrome, 212780 Tags
Green Green List (high evidence)	MYOCD	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Megabladder, congenital, OMIM:618719 Megabladder, congenital, MONDO:0032879 Tags
Green Green List (high evidence)	NADSYN1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Vertebral, cardiac, renal, and limb defects syndrome 3 618845 Tags
Green Green List (high evidence)	NIPBL	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Cornelia de Lange syndrome 1 122470 Tags
Green Green List (high evidence)	NOTCH2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Alagille syndrome 2 610205 Tags
Green Green List (high evidence)	NPHP3	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Nephronophthisis 3, 604387 Renal-hepatic-pancreatic dysplasia 1, 208540 Meckel syndrome 7, 267010 Renal-Hepatic-Pancreatic Dysplasia Tags
Green Green List (high evidence)	PAX2	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Papillorenal syndrome, 120330 RENAL-COLOBOMA SYNDROME Papillorenal syndrome Glomerulosclerosis, focal segmental, 7 Tags
Green Green List (high evidence)	PBX1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Phenotypes CAKUT Tags deletions
Green Green List (high evidence)	PLVAP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Diarrhoea 10, protein-losing enteropathy type, OMIM:618183 Tags
Green Green List (high evidence)	REN	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Renal Tubular Dysgenesis [Hyperproreninemia] Tags
Green Green List (high evidence)	RET	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green 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
Green Green List (high evidence)	ROBO1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurooculorenal syndrome, OMIM:620305 Tags
Green Green List (high evidence)	ROBO2	6 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Vesicoureteral reflux 2 610878 Tags
Green Green List (high evidence)	ROR2	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Robinow syndrome, autosomal recessive 268310 Tags
Green Green List (high evidence)	SALL1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Townes-Brocks syndrome, 107480 Townes-Brocks branchiootorenal-like syndrome, 107480 imperforate anus, ear abnormalities, thumb abnormalities Tags
Green Green List (high evidence)	SIX5	3 reviews 2 green	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)	STRA6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Microphthalmia, syndromic 9, MIM# 601186 Tags
Green Green List (high evidence)	TBC1D1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes CAKUT Tags
Green Green List (high evidence)	TBX18	4 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes CAKUT Renal cysts and diabetes glomerulocystic kidney disease hypomagneseamia Congenital anomalies of kidney and urinary tract 2, 143400 Tags
Green Green List (high evidence)	TFAP2A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Branchiooculofacial syndrome, MIM# 113620 Tags
Green Green List (high evidence)	TMEM260	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes Structural heart defects and renal anomalies syndrome, OMIM:617478 Structural heart defects and renal anomalies syndrome, MONDO:0044321 Tags
Green Green List (high evidence)	TRAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Tags gene-checked
Green Green List (high evidence)	WBP11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Vertebral, cardiac, tracheoesophageal, renal, and limb defects, OMIM:619227 Tags
Green Green List (high evidence)	ZIC3	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes VACTERL association, X-linked, MIM# 314390 Tags
Green Green List (high evidence)	ZMYM2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Phenotypes Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, OMIM:619522 Tags
Amber Amber List (moderate evidence)	BMP4	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Phenotypes CAKUT renal maldevelopment congenital renal dysplasia Congenital Anomaly of the Kidneys and Urinary Tract Tags
Amber Amber List (moderate evidence)	CENPF	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Stromme syndrome, OMIM:243605 Tags
Amber Amber List (moderate evidence)	EXOC3L2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Dandy-Walker malformation renal dysplasia bone marrow failure Tags watchlist
Amber Amber List (moderate evidence)	FGF20	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes ?Renal hypodysplasia/aplasia 2, 615721 Tags
Amber Amber List (moderate evidence)	HS2ST1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual disability dysmorphic features congenital anomalies Tags watchlist
Amber Amber List (moderate evidence)	SALL4	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Duane-radial ray syndrome, 607323 Tags
Amber Amber List (moderate evidence)	SLIT2	3 reviews 1 green 1 red	Not set	Sources Expert list Expert Review Amber Tags
Amber Amber List (moderate evidence)	WNT5A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Robinow syndrome, autosomal dominant 1, MIM#180700 Tags
Red Red List (low evidence)	ACTA2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red Phenotypes Multi system smooth muscle dysfunction Tags
Red Red List (low evidence)	BICC1	3 reviews 3 red	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes {Renal dysplasia, cystic, susceptibility to}, 601331 Tags
Red Red List (low evidence)	BMP7	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes CAKUT Tags
Red Red List (low evidence)	BSND	3 reviews 1 green 1 red	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)	CHD1L	4 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Other Phenotypes Renal or urinary tract malformation (CAKUT) ORPHA93545 Tags missense
Red Red List (low evidence)	COX10	2 reviews 2 red	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)	DACT1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Other Phenotypes ?Townes-Brocks syndrome 2,617466 TBS2 Tags watchlist
Red Red List (low evidence)	DLG3	1 review	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	FOXC1	2 reviews 1 red	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	FOXC2	1 review 1 red	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	FOXD2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Other Tags watchlist
Red Red List (low evidence)	GDNF	1 review 1 red	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	GREM1	2 reviews 1 red	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	HCN3	1 review 1 red	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	ISL1	1 review 1 red	Unknown	Sources Literature Phenotypes CAKUT Tags
Red Red List (low evidence)	KIT	1 review 1 red	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	MUC1	2 reviews 1 green	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Medullary cystic kidney disease 1, 174000 Tags
Red Red List (low evidence)	MYH11	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome Tags
Red Red List (low evidence)	NEK8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes ?Nephronophthisis 9, 613824?Renal-hepatic-pancreatic dysplasia 2, 615415 Tags
Red Red List (low evidence)	OCRL	3 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red UKGTN Tags
Red Red List (low evidence)	RPGRIP1L	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red UKGTN Tags
Red Red List (low evidence)	RRM2B	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Phenotypes Mitochondrial DNA depletion syndrome 8A (encephalomyopathic,renal tubulopathy), 612075 Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) Tags
Red Red List (low evidence)	SHH	1 review 1 red	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	SIX1	2 reviews 1 green	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)	SMARCA4	1 review 1 red	Unknown	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	SOX17	1 review 1 red	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Vesicoureteral reflux 3, 613674 Tags
Red Red List (low evidence)	SPRY1	1 review 1 red	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	TNXB	1 review 1 red	Not set	Sources Expert list Tags
Red Red List (low evidence)	TSHZ3	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	UMOD	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Uromodulin-associated kidney disease Medullary Cystic Kidney Disease 2 Hyperuricemic nephropathy, familial juvenile 1, 162000 Tags
Red Red List (low evidence)	UPK2	2 reviews 2 red	Other - please specifiy in evaluation comments	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	UPK3A	2 reviews 2 red	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)	VIPAS39	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 Tags
Red Red List (low evidence)	VPS33B	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 Arthrogryposis, renal dysfunction, and cholestasis Tags

Major version comments

26.04.2016 Panel revised after internal assessment of external expert reviews, and discussion internally regarding the relevance of certain genes with relation to CAKUT phenotypes. Revised panel was promoted to Version 1.

CAKUT (Version 1.177)

20 reviewers

102 Entities

102 reviewed, 60 green

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