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

169 Entities

82 reviewed, 78 green

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

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