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.

5 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • 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

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

166 genes

81 reviewed, 78 green

List Gene Reviews Mode of inheritance Details
166 genes
Green Green List (high evidence)
ANOS1
2 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review
  • Expert Review Green
Phenotypes
  • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700
Green Green List (high evidence)
ACE
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Renal Tubular Dysgenesis 267430
Green Green List (high evidence)
ACTG2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Visceral myopathy (Megacystis-microcolon intestinal hypoperistalsis syndrome, Berdon syndrome) 155310
Green Green List (high evidence)
ACTN4
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Glomerulosclerosis, focal segmental, 1 603278
Green Green List (high evidence)
AGT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Renal tubular dysgenesis, 267430
Green Green List (high evidence)
AGTR1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Renal tubular dysgenesis, 267430
Green Green List (high evidence)
AMN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Megaloblastic anemia-1, Norwegian type 261100
Green Green List (high evidence)
ANKS6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • Nephronophthisis 16 615382
Green Green List (high evidence)
ARHGDIA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Eligibility statement prior genetic testing
Phenotypes
  • Nephrotic syndrome, type 8 615244
Green Green List (high evidence)
C3
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • C3 deficiency 613779 AR
  • {Hemolytic uremic syndrome, atypical, susceptibility to, 5} 612925 AD
Green Green List (high evidence)
CD46
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review
  • Expert list
  • Expert Review Green
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 2 612922
Green Green List (high evidence)
CEP164
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Nephronophthisis 15 614845
Green Green List (high evidence)
CFB
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review
  • Expert list
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 4 612924
Green Green List (high evidence)
CFH
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Complement factor H deficiency 609814
  • {Hemolytic uremic syndrome, atypical, susceptibility to, 1} 235400
Green Green List (high evidence)
CFI
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • UKGTN
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 3 612923
Green Green List (high evidence)
CHD7
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert Review
Phenotypes
  • CHARGE syndrome 214800
Green Green List (high evidence)
CLCN5
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dent disease, 300009
  • Nephrolithiasis, type I, 310468
  • Hypophosphatemic rickets, 300554
  • Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990
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
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Alport syndrome, autosomal recessive, 203780
  • Hematuria, benign familial, 141200
  • Alport syndrome, autosomal dominant, 104200
Green Green List (high evidence)
COL4A4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Alport syndrome, autosomal recessive, 203780
  • Hematuria,familial benign
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
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
Phenotypes
  • Alport syndrome 301050
Green Green List (high evidence)
COQ2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Eligibility statement prior genetic testing
Phenotypes
  • Coenzyme Q10 deficiency, primary, 1 607426
Green Green List (high evidence)
COQ6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Eligibility statement prior genetic testing
Phenotypes
  • Coenzyme Q10 deficiency, primary, 6 614650
Green Green List (high evidence)
COQ8B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Nephrotic syndrome, type 9 615573
Green Green List (high evidence)
CTNS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review
  • Emory Genetics Laboratory
Phenotypes
  • Cystinosis, atypical nephropathic 219800
  • Cystinosis, late-onset juvenile or adolescent nephropathic 219900
  • Cystinosis, nephropathic 219800
Green Green List (high evidence)
CUBN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Megaloblastic anemia-1, Finnish type, (originally on the Imerslund-Grasbeck syndrome gene panel) 261100
Green Green List (high evidence)
DGKE
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert Review
  • Expert list
Phenotypes
  • Nephrotic syndrome, type 7 615008
  • {Hemolytic uremic syndrome, atypical, susceptibility to, 7} 615008
Green Green List (high evidence)
DSTYK
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • {Congenital anomalies of kidney and urinary tract, susceptibility to} 610805
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
Green Green List (high evidence)
FRAS1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Expert Review Green
Phenotypes
  • Fraser syndrome 219000
Green Green List (high evidence)
FREM1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bifid nose with or without anorectal and renal anomalies, 608980
Green Green List (high evidence)
FREM2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Fraser syndrome 219000
Green Green List (high evidence)
GATA3
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255
Green Green List (high evidence)
GLI3
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Pallister-Hall syndrome 146510
Green Green List (high evidence)
GRIP1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Fraser syndrome 219000
Green Green List (high evidence)
HNF1B
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • UKGTN
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Diabetes mellitus, noninsulin-dependent 125853
  • Renal cysts and diabetes syndrome 137920
  • {Renal cell carcinoma} 144700
Green Green List (high evidence)
HPSE2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert Review
Phenotypes
  • Urofacial syndrome 1 236730
Green Green List (high evidence)
INF2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Eligibility statement prior genetic testing
Phenotypes
  • Charcot-Marie-Tooth disease, dominant intermediate E 614455
  • Glomerulosclerosis, focal segmental, 5 613237
Green Green List (high evidence)
INVS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert
Phenotypes
  • Nephronophthisis 2, infantile 602088
Green Green List (high evidence)
ITGA3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 614748
Green Green List (high evidence)
ITGA8
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Renal hypodysplasia/aplasia 1, 191830
Green Green List (high evidence)
LAMB2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Eligibility statement prior genetic testing
Phenotypes
  • Nephrotic syndrome, type 5, with or without ocular abnormalities 614199
  • Pierson syndrome 609049
Green Green List (high evidence)
LMX1B
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Eligibility statement prior genetic testing
Phenotypes
  • Nail-patella syndrome 161200
Green Green List (high evidence)
LRIG2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert Review
Phenotypes
  • Urofacial syndrome 2 615112
Green Green List (high evidence)
MUC1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Medullary cystic kidney disease 1 174000
Green Green List (high evidence)
MYH9
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Eligibility statement prior genetic testing
Phenotypes
  • Epstein syndrome 153650
  • Fechtner syndrome 153640
Green Green List (high evidence)
MYO1E
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Eligibility statement prior genetic testing
Phenotypes
  • Glomerulosclerosis, focal segmental, 6 614131
Green Green List (high evidence)
NPHP1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert
Phenotypes
  • Joubert syndrome 4 609583
  • Nephronophthisis 1, juvenile 256100
  • Senior-Loken syndrome-1 266900
Green Green List (high evidence)
NPHP3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • Nephronophthisis 3, 604387
  • Renal-hepatic-pancreatic dysplasia 1, 208540
  • Meckel syndrome 7, 267010
Green Green List (high evidence)
NPHP4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert
Phenotypes
  • Nephronophthisis 4 606966
  • Senior-Loken syndrome 4 606996
Green Green List (high evidence)
NPHS1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Eligibility statement prior genetic testing
Phenotypes
  • Nephrotic syndrome, type 1 256300
Green Green List (high evidence)
NPHS2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
  • Eligibility statement prior genetic testing
Phenotypes
  • Nephrotic syndrome, type 2 600995
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
Green Green List (high evidence)
NUP93
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Nephrotic syndrome, type 12 616892
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 Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert Review
  • Expert list
Phenotypes
  • Joubert syndrome 10 300804
  • Simpson-Golabi-Behmel syndrome, type 2 300209 XLR
Green Green List (high evidence)
PAX2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Glomerulosclerosis, focal segmental, 7 616002
  • Papillorenal syndrome 120330
Green Green List (high evidence)
PKD1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert list
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Polycystic kidney disease, adult type I, 173900
Green Green List (high evidence)
PKD2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert
  • Emory Genetics Laboratory
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Polycystic kidney disease 2, 613095
Green Green List (high evidence)
PKHD1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Polycystic kidney and hepatic disease, 263200
Green Green List (high evidence)
PLCE1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Eligibility statement prior genetic testing
Phenotypes
  • Nephrotic syndrome, type 3 610725
Green Green List (high evidence)
REN
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Hyperuricemic nephropathy, familial juvenile 2 613092
  • Renal tubular dysgenesis 267430
  • [Hyperproreninemia]
Green Green List (high evidence)
RPGRIP1L
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
  • Expert
Phenotypes
  • COACH syndrome 216360
  • Joubert syndrome 7 611560
  • Meckel syndrome 5 611561
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
Green Green List (high evidence)
SALL1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Townes-Brocks syndrome, 107480
  • Townes-Brocks branchiootorenal-like syndrome, 107480
Green Green List (high evidence)
SCARB2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Eligibility statement prior genetic testing
Phenotypes
  • Epilepsy, progressive myoclonic 4, with or without renal failure 254900
Green Green List (high evidence)
SGPL1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Nephrotic syndrome 14 617575
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
Green Green List (high evidence)
SMARCAL1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Schimke immunoosseous dysplasia 242900
Green Green List (high evidence)
TBX18
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Congenital anomalies of kidney and urinary tract 2 143400
Green Green List (high evidence)
TMEM67
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • COACH syndrome 216360
  • Joubert syndrome 6 610688
  • Meckel syndrome 3 607361
  • Nephronophthisis 11 613550
  • {Bardet-Biedl syndrome 14, modifier of} 615991
Green Green List (high evidence)
TRAP1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • CAKUT
  • VACTERL 192350
Green Green List (high evidence)
TRPC6
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Eligibility statement prior genetic testing
Phenotypes
  • Glomerulosclerosis, focal segmental, 2 603965
Green Green List (high evidence)
TSC1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Tuberous sclerosis-1 191100
Green Green List (high evidence)
TSC2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert
Phenotypes
  • Tuberous sclerosis-2 613254
Green Green List (high evidence)
TTC21B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert
Phenotypes
  • Nephronophthisis 12 613820
Green Green List (high evidence)
UMOD
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Eligibility statement prior genetic testing
  • Other
Phenotypes
  • Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886
  • Hyperuricemic nephropathy, familial juvenile 1 162000
  • Medullary cystic kidney disease 2 603860
Green Green List (high evidence)
VHL
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert
Phenotypes
  • von Hippel-Lindau syndrome 193300
Green Green List (high evidence)
VPS33B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis 1 208085
Green Green List (high evidence)
WT1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • UKGTN
Phenotypes
  • Nephrotic syndrome, type 4 256370
Red Red List (low evidence)
ACTA2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Multi system smooth muscle dysfunction
Red Red List (low evidence)
AHI1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Joubert syndrome-3 608629
Red Red List (low evidence)
ALG1
0 reviews
Not set
Sources
  • Eligibility statement prior genetic testing
Red Red List (low evidence)
ALMS1
0 reviews
Not set
Sources
  • Eligibility statement prior genetic testing
Red Red List (low evidence)
APOL1
0 reviews
Not set
Sources
  • Eligibility statement prior genetic testing
Red Red List (low evidence)
ARHGAP24
0 reviews
Not set
Sources
  • Eligibility statement prior genetic testing
Red Red List (low evidence)
ARL13B
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Red Red List (low evidence)
ARL6
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Red Red List (low evidence)
BBS1
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Red Red List (low evidence)
BBS10
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Red Red List (low evidence)
BBS12
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Red Red List (low evidence)
BBS2
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Red Red List (low evidence)
BBS4
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Red Red List (low evidence)
BBS5
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Red Red List (low evidence)
BBS9
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
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
Red Red List (low evidence)
BMP4
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert list
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, 602522Sensorineural deafness with mild renal dysfunction, 602522
Red Red List (low evidence)
C5orf42
1 review
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
  • new-gene-name
Red Red List (low evidence)
CC2D2A
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Red Red List (low evidence)
CCDC28B
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Red Red List (low evidence)
CD151
0 reviews
Not set
Sources
  • Eligibility statement prior genetic testing
Red Red List (low evidence)
CD2AP
0 reviews
Not set
Sources
  • Eligibility statement prior genetic testing
Red Red List (low evidence)
CEP290
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Red Red List (low evidence)
CEP41
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Red Red List (low evidence)
CFHR5
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Literature
  • Expert Review Red
Phenotypes
  • Haematuria
  • C3 glomerulopathy
  • kidney failure
  • macroscopic haematuria
Red Red List (low evidence)
CHRM3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Prune Belly-Like Syndrome
  • Low pressure congenital megabladder
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)
Red Red List (low evidence)
COX10
0 reviews
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due tocytochrome c oxidase deficiency
Red Red List (low evidence)
CYP11B2
0 reviews
Not set
Sources
  • Eligibility statement prior genetic testing
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
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)
Red Red List (low evidence)
DLG3
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert list
Red Red List (low evidence)
E2F3
0 reviews
Not set
Sources
  • Eligibility statement prior genetic testing
Red Red List (low evidence)
FOXC1
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert list
Red Red List (low evidence)
FOXC2
0 reviews
Not set
Sources
  • Expert list
  • Expert Review Red
Red Red List (low evidence)
GDNF
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert list
Red Red List (low evidence)
GIF
0 reviews
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)
Red Red List (low evidence)
GLA
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • Expert
Red Red List (low evidence)
GLIS2
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Red Red List (low evidence)
GREM1
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert list
Red Red List (low evidence)
HCN3
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert list
Red Red List (low evidence)
INPP5E
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Red Red List (low evidence)
IQCB1
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Red Red List (low evidence)
ITGB4
0 reviews
Not set
Sources
  • Eligibility statement prior genetic testing
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
Red Red List (low evidence)
KIF7
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Red Red List (low evidence)
KIT
0 reviews
Not set
Sources
  • Expert list
  • Expert Review Red
Red Red List (low evidence)
MKS1
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
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)
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)
Red Red List (low evidence)
MYH11
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome
Red Red List (low evidence)
NEK8
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • ?Nephronophthisis 9, 613824?Renal-hepatic-pancreatic dysplasia 2, 615415
Red Red List (low evidence)
OCRL
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • UKGTN
Red Red List (low evidence)
PDSS2
0 reviews
Not set
Sources
  • Eligibility statement prior genetic testing
Red Red List (low evidence)
PMM2
0 reviews
Not set
Sources
  • Eligibility statement prior genetic testing
Red Red List (low evidence)
PRKCSH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert
Red Red List (low evidence)
PTPRO
0 reviews
Not set
Sources
  • Eligibility statement prior genetic testing
Red Red List (low evidence)
RET
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Red
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
Red Red List (low evidence)
ROBO2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
Phenotypes
  • Vesicoureteral reflux 2, 610878
  • Vesicoureteral Reflux
Red Red List (low evidence)
SDCCAG8
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Red Red List (low evidence)
SEC63
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert
Red Red List (low evidence)
SHH
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert list
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
Red Red List (low evidence)
SLC19A2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Thiamine-Responsive Megaloblastic Anemia
  • Thiamine-responsive megaloblastic anemia syndrome, 249270
  • (originally on the Imerslund-Grasbeck syndrome gene panel)
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)
Red Red List (low evidence)
SLIT2
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert list
Red Red List (low evidence)
SMARCA4
0 reviews
Unknown
Sources
  • Expert list
  • Expert Review Red
Red Red List (low evidence)
SOX17
0 reviews
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Vesicoureteral reflux 3, 613674
Red Red List (low evidence)
SPRY1
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert list
Red Red List (low evidence)
TCTN1
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Red Red List (low evidence)
TCTN3
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Red Red List (low evidence)
TMEM138
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Red Red List (low evidence)
TMEM216
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Red Red List (low evidence)
TMEM231
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Red Red List (low evidence)
TMEM237
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Red Red List (low evidence)
TNXB
0 reviews
Not set
Sources
  • Expert list
Red Red List (low evidence)
TRIM32
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Red Red List (low evidence)
TSHZ3
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
Red Red List (low evidence)
TTC8
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Red Red List (low evidence)
UPK2
0 reviews
Other - please specifiy in evaluation comments
Sources
  • Expert Review Red
  • Expert list
Red Red List (low evidence)
UPK3A
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Renal Adysplasia
Red Red List (low evidence)
VIPAS39
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis 2, 613404
Red Red List (low evidence)
WDPCP
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Red Red List (low evidence)
WDR19
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Red Red List (low evidence)
XPNPEP3
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Red Red List (low evidence)
ZMPSTE24
0 reviews
Not set
Sources
  • Eligibility statement prior genetic testing
Red Red List (low evidence)
ZNF423
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

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