Description
This panel has been created as a placeholder for a new panel in development.

This panel is used as a virtual panel to analyse genome or exome data in the NHS Genomic Medicine Service; the panel will routinely be applied for clinical indication 'R257 Unexplained paediatric onset end-stage renal disease' but can also be used as part of the analysis for a broader clinical presentation, where relevant.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R257 Unexplained paediatric onset end-stage renal disease'.

The content of this panel is overseen by the NHS Genomic Medicine Service governance.

If this panel is not being delivered by WGS, CNVs and STRs may not be routinely included in the analysis. Please contact your local Genomic Laboratory Hub for information regarding specific queries.

16 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Bill Newman (Manchester Centre for Genomic Medicine)

    Group: other
    Workplace: other

  • Sian Ellard (University of Exeter Medical School)

    Group: other
    Workplace: other

  • John Sayer (Newcastle University)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Daniel Gale (UCL)

    Group: GeCIP domain
    Workplace: Research lab

  • Miranda Durkie (Genetics)

    Group: GeCIP domain
    Workplace: NHS diagnostic lab

  • Helen Stuart (University of Manchester)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Fiona Karet (Universit y of Cambridge)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Olivia Niblock (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Adrian Woolf (Professor of Paediatric Scicence, Univerisity of Manchester)

    Group: Other
    Workplace: Research lab

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Anna de Burca (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Detlef Bockenhauer (GOSH-UCL)

    Group: GeCIP domain
    Workplace: NHS clinical service

180 Entities

180 reviewed, 96 green

List Entity Reviews Mode of inheritance Details
180 Entitiess
Green Green List (high evidence)
ACE
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Renal Tubular Dysgenesis
  • {Myocardial infarction, susceptibility to}{Alzheimer disease, susceptibility to}, 104300{Microvascular complications of diabetes 3}, 612624[Angiotensin I-converting enzyme, benign serum increase]{SARS, progression of}Renal tubular
  • Renal Tubular Dysgenesis 267430
Tags
Green Green List (high evidence)
ACTG2
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Berdon syndrome
  • visceral myopathy
  • Visceral myopathy (Megacystis-microcolon intestinal hypoperistalsis syndrome, Berdon syndrome) 155310
  • Megacystis-microcolon intestinal hypoperistalsis syndrome
Tags
Green Green List (high evidence)
ACTN4
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Glomerulosclerosis, focal segmental, 1 603278
Tags
Green Green List (high evidence)
AGT
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Renal Tubular Dysgenesis
  • {Hypertension, essential, susceptibility to}, 145500{Preeclampsia, susceptibility to}Renal tubular dysgenesis, 267430
  • Renal tubular dysgenesis, 267430
Tags
Green Green List (high evidence)
AGTR1
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Renal Tubular Dysgenesis
  • Renal tubular dysgenesis, 267430
  • Hypertension, essential, 145500
Tags
Green Green List (high evidence)
AMN
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Megaloblastic anemia-1, Norwegian type 261100
Tags
Green Green List (high evidence)
ANKS6
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nephronophthisis 16 615382
  • Ciliopathy genes associated with cystic kidney disease
Tags
Green Green List (high evidence)
ANOS1
7 reviews
2 green 1 red
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
Phenotypes
  • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)
  • Kallman syndrome
Tags
Green Green List (high evidence)
ARHGDIA
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nephrotic syndrome, type 8 615244
Tags
Green Green List (high evidence)
BNC2
3 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Posterior urethral valves
  • PUV
  • Congenital lower urinary-tract obstruction
Tags
Green Green List (high evidence)
BSND
4 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
Phenotypes
  • Bartter syndrome, type 4a, 602522
  • Sensorineural deafness with mild renal dysfunction, 602522
Tags
Green Green List (high evidence)
C3
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • C3 deficiency 613779 AR
  • {Hemolytic uremic syndrome, atypical, susceptibility to, 5} 612925 AD
Tags
Green Green List (high evidence)
CD46
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 2 612922
Tags
Green Green List (high evidence)
CEP164
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Nephronophthisis 15 614845
Tags
Green Green List (high evidence)
CEP83
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • NEPHRONOPHTHISIS 18
Tags
Green Green List (high evidence)
CFB
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 4 612924
Tags
Green Green List (high evidence)
CFH
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • {Hemolytic uremic syndrome, atypical, susceptibility to, 1} 235400
  • Complement factor H deficiency 609814
Tags
Green Green List (high evidence)
CFHR5
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Haematuria
  • macroscopic haematuria
  • kidney failure
  • C3 glomerulopathy
Tags
Green Green List (high evidence)
CFI
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 3 612923
Tags
Green Green List (high evidence)
CHD7
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • CHARGE syndrome 214800
Tags
Green Green List (high evidence)
CLCN5
2 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Nephrolithiasis, type I, 310468
  • Dent disease, 300009
  • Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990
  • Hypophosphatemic rickets, 300554
Tags
Green Green List (high evidence)
COL4A1
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • raised creatinine kinase
  • tortuous retinal vessels
  • intracranial anuerysms
  • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773
  • Exophytic renal cysts
  • haematuria
Tags
Green Green List (high evidence)
COL4A3
2 reviews
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Alport syndrome, autosomal recessive, 203780
  • Alport syndrome, autosomal dominant, 104200
  • Hematuria, benign familial, 141200
Tags
Green Green List (high evidence)
COL4A4
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hematuria,familial benign
  • Alport syndrome, autosomal recessive, 203780
Tags
Green Green List (high evidence)
COL4A5
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 Green
Phenotypes
  • Alport syndrome 301050
Tags
Green Green List (high evidence)
COQ2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Coenzyme Q10 deficiency, primary, 1 301050
Tags
Green Green List (high evidence)
COQ6
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Coenzyme Q10 deficiency, primary, 6 614650
Tags
Green Green List (high evidence)
COQ8B
2 reviews
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
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cystinosis, atypical nephropathic 219800
  • Cystinosis, nephropathic 219800
  • Cystinosis, late-onset juvenile or adolescent nephropathic 219900
Tags
Green Green List (high evidence)
CUBN
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Megaloblastic anemia-1, Finnish type, (originally on the Imerslund-Grasbeck syndrome gene panel) 261100
Tags
Green Green List (high evidence)
DGKE
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nephrotic syndrome, type 7 615008
  • {Hemolytic uremic syndrome, atypical, susceptibility to, 7} 615008
Tags
Green Green List (high evidence)
DNAJB11
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Polycystic kidney disease
  • Tubulointerstitial kidney disease
  • cystic kidney disease
  • non-enlarged kidney
  • end stage renal failure
Tags
Green Green List (high evidence)
DSTYK
6 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Renal hypodysplasia
  • {Congenital anomalies of kidney and urinary tract, susceptibility to}
  • CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1
  • ureteropelvic junction obstruction
  • {Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805
  • vesicoureteric reflux
Tags
Green Green List (high evidence)
DZIP1L
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • ARPKD
  • Polycystic kidney disease 5 617610
Tags
Green Green List (high evidence)
EYA1
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Branchiootorenal syndrome 1, with or without cataracts, 113650
  • Otofaciocervical syndrome, 166780
  • Branchiootic syndrome 1, 602588
  • Branchiootorenal syndrome 1, with or without cataracts
  • Branchiootorenal Spectrum Disorders
  • Anterior segment anomalies with or without cataract, 113650
Tags
Green Green List (high evidence)
FRAS1
6 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Fraser syndrome 219000
  • Fraser syndrome
Tags
Green Green List (high evidence)
FREM1
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Bifid nose with or without anorectal and renal anomalies, 608980
Tags
Green Green List (high evidence)
FREM2
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Fraser syndrome 219000
  • Fraser syndrome
Tags
Green Green List (high evidence)
GANAB
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Mild cystic kidney and liver disease
  • Polycyctic kidney disease 3
Tags
Green Green List (high evidence)
GATA3
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255
  • Hypoparathyroidism, Sensorineural Deafness, and Renal Disease
Tags
Green Green List (high evidence)
GLI3
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Pallister-Hall syndrome
  • Pallister-Hall syndrome 146510
Tags
Green Green List (high evidence)
GRIP1
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Fraser syndrome 219000
  • Fraser syndrome
  • isolated CAKUT
Tags
Green Green List (high evidence)
HAAO
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • VACTERL-like phenotype
  • Multiple congenital malformations
Tags
Green Green List (high evidence)
HNF1B
9 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Diabetes mellitus, noninsulin-dependent 125853
  • {Renal cell carcinoma} 144700
  • Diabetes mellitus, noninsulin-dependent
  • Renal cysts and diabetes syndrome
  • Renal cysts and diabetes syndrome 137920
Tags
Green Green List (high evidence)
HPSE2
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital bladder disease: dyssynergic, high pressure bladder
  • Urofacial syndrome 1 236730
  • Urofacial Syndrome
Tags
Green Green List (high evidence)
INF2
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Glomerulosclerosis, focal segmental, 5 613237
  • Charcot-Marie-Tooth disease, dominant intermediate E 614455
Tags
Green Green List (high evidence)
INVS
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nephronophthisis 2, infantile 602088
  • Ciliopathy genes associated with cystic kidney disease
Tags
Green Green List (high evidence)
11p13 (WAGR syndrome) region Loss
ISCA-37401-Loss
Region
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • 194072
  • Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome
Tags
Green Green List (high evidence)
2q13 recurrent region (includes NPHP1) Loss
ISCA-37405-Loss
Region
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 609583
  • 266900
  • 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
Tags
Green Green List (high evidence)
17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss
ISCA-37432-Loss
Region
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Schizophrenia
  • Renal cysts and diabetes syndrome
  • delayed development, intellectual disability
  • Autism Spectrum Disorder
  • Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females
  • global developmental delay
  • 614527
  • RCAD syndrome
  • Chromosome 17q12 deletion syndrome
  • utero-vaginal atresia
Tags
Green Green List (high evidence)
ITGA3
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 614748
Tags
Green Green List (high evidence)
ITGA8
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Renal hypodysplasia/aplasia 1, 191830
Tags
Green Green List (high evidence)
KYNU
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • ?Hydroxykynureninuria, 236800
  • multiple congenital malformations
  • VACTERL-like phenotype
  • Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism)
Tags
Green Green List (high evidence)
LAMB2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pierson syndrome 609049
  • Nephrotic syndrome, type 5, with or without ocular abnormalities 614199
Tags
Green Green List (high evidence)
LMX1B
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Nail-patella syndrome 161200
Tags
Green Green List (high evidence)
LRIG2
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Urofacial syndrome
  • Urofacial syndrome 2 615112
  • Congenital bladder disease: dyssynergic, high pressure bladder.
Tags
Green Green List (high evidence)
MAPKBP1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • NEPHRONOPHTHISIS 20
Tags
Green Green List (high evidence)
MUC1
7 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Medullary cystic kidney disease 1, 174000
  • Medullary cystic kidney disease 1
Tags
Green Green List (high evidence)
MYH9
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Epstein syndrome 153650
  • Fechtner syndrome 153640
Tags
Green Green List (high evidence)
MYO1E
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glomerulosclerosis, focal segmental, 6 614131
Tags
Green Green List (high evidence)
NPHP1
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 4 609583
  • Ciliopathy genes associated with cystic kidney disease
  • Senior-Loken syndrome-1 266900
  • Nephronophthisis 1, juvenile 256100
Tags
Green Green List (high evidence)
NPHP3
7 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Meckel syndrome 7, 267010
  • Renal-Hepatic-Pancreatic Dysplasia
  • Ciliopathy genes associated with cystic kidney disease
  • Nephronophthisis 3, 604387
  • Renal-hepatic-pancreatic dysplasia 1, 208540
Tags
Green Green List (high evidence)
NPHP4
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Senior-Loken syndrome 4 606996
  • Ciliopathy genes associated with cystic kidney disease
  • Nephronophthisis 4 606966
Tags
Green Green List (high evidence)
NPHS1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nephrotic syndrome, type 1 256300
Tags
Green Green List (high evidence)
NPHS2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nephrotic syndrome, type 2 600995
Tags
Green Green List (high evidence)
NUP107
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nephrotic syndrome, type 11 616730
Tags
Green Green List (high evidence)
NUP93
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nephrotic syndrome, type 12 616892
Tags
Green Green List (high evidence)
OCRL
4 reviews
1 green 1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert Review Red
Phenotypes
  • LOWE OCULOCEREBRORENAL SYNDROME #309000
  • Dent disease 2 #300555
Tags
Green Green List (high evidence)
OFD1
5 reviews
2 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 10 300804
  • Simpson-Golabi-Behmel syndrome, type 2 300209 XLR
Tags
Green Green List (high evidence)
PAX2
6 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Papillorenal syndrome, 120330
  • RENAL-COLOBOMA SYNDROME
  • Papillorenal syndrome
  • Glomerulosclerosis, focal segmental, 7
  • Glomerulosclerosis, focal segmental, 7 616002
Tags
Green Green List (high evidence)
PBX1
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • CAKUT
Tags
Green Green List (high evidence)
PKD1
5 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Polycystic kidney disease, adult type I, 173900
  • Autosomal recessive polycystic kidney disease (ARPKD)
  • Autosomal dominant polycystic kidney disease (ADPKD)
Tags
Green Green List (high evidence)
PKD2
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Autosomal Dominant Polycystic Kidney Disease
  • Polycystic Kidney Disease, Autosomal Dominant
  • Polycystic kidney disease 2, 613095
Tags
Green Green List (high evidence)
PKHD1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Polycystic Kidney Disease, Autosomal Recessive
  • Polycystic kidney and hepatic disease, 263200
  • Autosomal Recessive Polycystic Kidney Disease
Tags
Green Green List (high evidence)
PLCE1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nephrotic syndrome, type 3 610725
Tags
Green Green List (high evidence)
REN
5 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Renal Tubular Dysgenesis
  • Renal tubular dysgenesis 267430
  • [Hyperproreninemia]
  • Hyperuricemic nephropathy, familial juvenile 2613092
Tags
Green Green List (high evidence)
RET
5 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Multiple endocrine neoplasia IIB, 162300
  • Central hypoventilation syndrome, congenital, 209880
  • Multiple endocrine neoplasia IIA, 171400
  • Renal agenesis, 191830
  • {Hirschsprung disease, susceptibility to, 1}, 142623
  • Pheochromocytoma, 171300
  • Renal Adysplasia
  • Medullary thyroid carcinoma, 155240
Tags
Green Green List (high evidence)
RPGRIP1L
6 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Meckel syndrome 5 611561
  • Ciliopathy genes associated with cystic kidney disease
  • COACH syndrome 216360
  • Joubert syndrome 7 611560
Tags
Green Green List (high evidence)
RRM2B
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075
  • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic,renal tubulopathy), 612075
  • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075
Tags
Green Green List (high evidence)
SALL1
5 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • imperforate anus, ear abnormalities, thumb abnormalities
  • Townes-Brocks branchiootorenal-like syndrome, 107480
  • Townes-Brocks syndrome, 107480
Tags
Green Green List (high evidence)
SCARB2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epilepsy, progressive myoclonic 4, with or without renal failure 254900
Tags
Green Green List (high evidence)
SGPL1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nephrotic syndrome 14 617575
Tags
Green Green List (high evidence)
SIX5
5 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Branchiootorenal syndrome 2, 610896
Tags
Green Green List (high evidence)
SMARCAL1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Schimke immunoosseous dysplasia 242900
Tags
Green Green List (high evidence)
TBX18
6 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Congenital anomalies of kidney and urinary tract 2 143400
Tags
Green Green List (high evidence)
TMEM67
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 6 610688
  • Nephronophthisis 11 613550
  • Meckel syndrome 3 607361
  • Ciliopathy genes associated with cystic kidney disease
  • {Bardet-Biedl syndrome 14, modifier of} 615991
  • COACH syndrome 216360
Tags
Green Green List (high evidence)
TRAP1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • CAKUT
  • VACTERL 192350
Tags
Green Green List (high evidence)
TRPC6
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Glomerulosclerosis, focal segmental, 2 603965
Tags
Green Green List (high evidence)
TSC1
5 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Tuberous sclerosis-1 191100
Tags
Green Green List (high evidence)
TSC2
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Tuberous sclerosis-2 613254
Tags
Green Green List (high evidence)
TTC21B
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nephronophthisis 12 613820
  • Ciliopathy genes associated with cystic kidney disease
Tags
Green Green List (high evidence)
UMOD
6 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886
  • Uromodulin-associated kidney disease
  • Hyperuricemic nephropathy, familial juvenile 1 162000
  • Medullary cystic kidney disease 2 603860
  • Medullary Cystic Kidney Disease 2
  • Hyperuricemic nephropathy, familial juvenile 1, 162000
Tags
Green Green List (high evidence)
VHL
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • von Hippel-Lindau syndrome 193300
Tags
Green Green List (high evidence)
VPS33B
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
  • Arthrogryposis, renal dysfunction, and cholestasis 1
  • Arthrogryposis, renal dysfunction, and cholestasis 1, 208085
  • Arthrogryposis, renal dysfunction, and cholestasis
Tags
Green Green List (high evidence)
WDR19
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nephronophthisis 13
  • Ciliopathy genes associated with cystic kidney disease
  • Senior-Loken
Tags
Green Green List (high evidence)
WT1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Nephrotic syndrome, type 4 256370
Tags
Amber Amber List (moderate evidence)
CEP290
5 reviews
2 green
Unknown
Sources
  • Expert Review Amber
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
ACTA2
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Multi system smooth muscle dysfunction
Tags
Red Red List (low evidence)
AHI1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Joubert syndrome-3 608629
Tags
Red Red List (low evidence)
ALG1
1 review
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
ALMS1
1 review
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
APOL1
1 review
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
ARHGAP24
1 review
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
ARL13B
3 reviews
1 red
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
ARL6
3 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
BBS1
3 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
BBS10
3 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
BBS12
3 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
BBS2
3 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
BBS4
3 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
BBS5
3 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
BBS9
3 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
BICC1
4 reviews
3 red
Unknown
Sources
  • Expert Review Red
Phenotypes
  • {Renal dysplasia, cystic, susceptibility to}, 601331
Tags
Red Red List (low evidence)
BMP4
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
C5orf42
4 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
  • new-gene-name
Red Red List (low evidence)
CC2D2A
3 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
CCDC28B
3 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
CD151
1 review
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
CD2AP
1 review
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
CEP41
3 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
CHD1L
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • ORPHA93545
  • Renal or urinary tract malformation (CAKUT)
Tags
Red Red List (low evidence)
CHRM3
4 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Low pressure congenital megabladder
  • Prune Belly-Like Syndrome
Tags
Red Red List (low evidence)
COL4A6
1 review
Unknown
Sources
  • Expert Review Red
Phenotypes
  • (originally on Alport syndrome gene panel)
  • diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5
  • diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5 Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4)
  • Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4)
Tags
Red Red List (low evidence)
COX10
3 reviews
2 red
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due tocytochrome c oxidase deficiency
Tags
Red Red List (low evidence)
CYP11B2
1 review
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
DACT1
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • ?Townes-Brocks syndrome 2,617466
  • TBS2
Tags
Red Red List (low evidence)
DHFR
1 review
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839
  • (originally on the Imerslund-Grasbeck syndrome gene panel)
Tags
Red Red List (low evidence)
DLG3
2 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
E2F3
1 review
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
FOXC1
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
FOXC2
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
GDNF
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
GIF
2 reviews
Unknown
Sources
  • Expert Review Red
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
4 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 Red
Tags
Red Red List (low evidence)
GLIS2
3 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
GREM1
3 reviews
1 red
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
HCN3
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
INPP5E
3 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
IQCB1
3 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
ITGB4
1 review
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
KANK2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome
Tags
Red Red List (low evidence)
KIF7
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
KIT
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
MKS1
3 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
MTR
1 review
Unknown
Sources
  • Expert Review Red
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
1 review
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Homocystinuria-megaloblastic anemia, cbl E type, 236270
  • (originally on the Imerslund-Grasbeck syndrome gene panel)
Tags
Red Red List (low evidence)
MYH11
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome
Tags
Red Red List (low evidence)
NEK8
4 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • ?Nephronophthisis 9, 613824?Renal-hepatic-pancreatic dysplasia 2, 615415
Tags
Red Red List (low evidence)
PDSS2
1 review
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
PMM2
1 review
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
PRKCSH
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
PTPRO
1 review
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
ROBO2
5 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Vesicoureteral Reflux
  • Vesicoureteral reflux 2, 610878
Tags
Red Red List (low evidence)
SDCCAG8
3 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
SEC63
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
SHH
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
SIX1
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Branchiootorenal Spectrum Disorders
Tags
Red Red List (low evidence)
SLC19A2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • (originally on the Imerslund-Grasbeck syndrome gene panel)
  • Thiamine-Responsive Megaloblastic Anemia
  • Thiamine-responsive megaloblastic anemia syndrome, 249270
Tags
Red Red List (low evidence)
SLC19A3
1 review
Unknown
Sources
  • Expert Review Red
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
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
SMARCA4
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
SOX17
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Vesicoureteral reflux 3, 613674
Tags
Red Red List (low evidence)
SPRY1
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
TCTN1
3 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
TCTN3
3 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
TMEM138
3 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
TMEM216
3 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
TMEM231
3 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
TMEM237
3 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
TNXB
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
TRIM32
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
TSHZ3
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
TTC8
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
UPK2
3 reviews
2 red
Other - please specifiy in evaluation comments
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
UPK3A
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Renal Adysplasia
Tags
Red Red List (low evidence)
VIPAS39
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis 2, 613404
Tags
Red Red List (low evidence)
WDPCP
2 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
XPNPEP3
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
ZMPSTE24
1 review
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
ZNF423
1 review
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags

Downloads

Download lists

Download Version