Description
CAKUT eligibility statement:

CAKUT inclusion criteria (29660)
A. One or more of:  
- Renal hypodysplasia or agenesis  
- Congenital multicystic kidney  
- Congenital, persistent, severe hydroureter  
- Congenital, persistent, severe congenital hydronephrosis  
- Bladder exstrophy  
- Posterior urethral valves
In the presence or absence of family history or other features 
OR 
B. One or more of: 
- Duplex kidney 
- Vesicoureteric reflux 
- Vesicoureteric or ureteropelvic junction obstruction 
AND - Syndromic disease OR 
- Family history of CAKUT  
AND (for A. or B.) 
- 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 (29660)
- Clinical or molecular diagnosis of autosomal dominant or autosomal recessive polycystic kidney disease
- Known causative genetic or chromosomal abnormality

Prior genetic testing guidance (29660)
- 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 (29660)
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 (29660)
These requirements will be kept under continual review during the main programme and may be subject to change.

9 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

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Detlef Bockenhauer (GOSH-UCL)

    Group: GeCIP domain
    Workplace: NHS clinical service

66 Entities

65 reviewed, 32 green

List Entity Reviews Mode of inheritance Details
66 Entitiess
Green Green List (high evidence)
ANOS1
4 reviews
2 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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)
17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss
ISCA-37432-Loss
Region
0 reviews
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)
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, 145500Renal tubular dysgenesis, 267430
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)
DSTYK
4 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • 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, 113650Anterior segment anomalies with or without cataract, 113650Branchiootic syndrome 1, 602588Otofaciocervical syndrome, 166780
  • Branchiootorenal Spectrum Disorders
Tags
Green Green List (high evidence)
FRAS1
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Fraser syndrome
Tags
Green Green List (high evidence)
FREM1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • 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 Review Green
  • Expert list
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 Review Green
  • Expert list
Phenotypes
  • Pallister-Hall syndrome
Tags
Green Green List (high evidence)
GRIP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
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)
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)
ITGA8
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Renal hypodysplasia/aplasia 1, 191830
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)
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)
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, 604387Renal-hepatic-pancreatic dysplasia 1, 208540Meckel 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 Review Green
  • Expert list
  • 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)
REN
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Renal Adysplasia
  • Multiple endocrine neoplasia IIA, 171400Medullary thyroid carcinoma, 155240Multiple endocrine neoplasia IIB, 162300Central hypoventilation syndrome, congenital, 209880Pheochromocytoma, 171300Renal agenesis, 191830{Hirschsprung disease, susceptibility to, 1}, 142623
Tags
Green Green List (high evidence)
RPGRIP1L
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Tags
Green Green List (high evidence)
RRM2B
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • 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
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)
TBX18
4 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Tags
Green Green List (high evidence)
TRAP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Tags
Green Green List (high evidence)
VPS33B
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • 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
Amber Amber List (moderate evidence)
BNC2
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Posterior urethral valves
  • PUV
Tags
  • watchlist
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)
BMP4
1 review
1 red
Not set
Sources
  • Expert Review Red
  • Expert list
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, 602522Sensorineural deafness with mild renal dysfunction, 602522
Tags
Red Red List (low evidence)
CHD1L
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Renal or urinary tract malformation (CAKUT)
  • ORPHA93545
Tags
Red Red List (low evidence)
CHRM3
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Prune Belly-Like Syndrome
  • Low pressure congenital megabladder
Tags
Red Red List (low evidence)
COX10
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due tocytochrome c oxidase deficiency
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)
DLG3
1 review
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
FOXC1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
FOXC2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
GDNF
1 review
1 red
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
GREM1
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
HCN3
1 review
1 red
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
KIT
1 review
1 red
Not set
Sources
  • Expert Review Red
  • Expert list
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)
ROBO2
4 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Vesicoureteral reflux 2, 610878
  • Vesicoureteral Reflux
Tags
Red Red List (low evidence)
SHH
1 review
1 red
Not set
Sources
  • Expert Review Red
  • Expert list
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)
SLIT2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
SMARCA4
1 review
1 red
Unknown
Sources
  • Expert Review Red
  • Expert list
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 Review Red
  • Expert list
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 Review Red
  • Expert list
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 Review Red
  • Expert list
Tags
Red Red List (low evidence)
UPK3A
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
  • 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

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