Description
This panel is a virtual panel that can form part of the analysis of a broader phenotype, where relevant, using genome or exome data in the NHS Genomic Medicine Service. This is not a primary panel for any GMS clinical indications.

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

This panel was originally created from the following gene panels:
- Cystic kidney disease (v1.33, code 283)
- CAKUT (v1.29, code 234)
- End-stage renal disease - childhood onset (v1.23, code 156)

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

155 reviewed, 90 green

List Entity Reviews Mode of inheritance Details
180 Entitiess
Green Green List (high evidence)
ACE
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Renal Tubular Dysgenesis
  • Renal Tubular Dysgenesis 267430
  • {Myocardial infarction, susceptibility to}{Alzheimer disease, susceptibility to}, 104300{Microvascular complications of diabetes 3}, 612624[Angiotensin I-converting enzyme, benign serum increase]{SARS, progression of}Renal tubular
Tags
Green Green List (high evidence)
ACTG2
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • visceral myopathy
  • Megacystis-microcolon intestinal hypoperistalsis syndrome
  • Berdon syndrome
  • Visceral myopathy (Megacystis-microcolon intestinal hypoperistalsis syndrome, Berdon syndrome) 155310
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
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Renal Tubular Dysgenesis
  • Renal tubular dysgenesis, 267430
  • {Hypertension, essential, susceptibility to}, 145500{Preeclampsia, susceptibility to}Renal tubular dysgenesis, 267430
Tags
Green Green List (high evidence)
AGTR1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Renal Tubular Dysgenesis
  • Renal tubular dysgenesis, 267430
  • Hypertension, essential, 145500
  • Renal tubular dysgenesis, 267430
Tags
Green Green List (high evidence)
AMN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Megaloblastic anemia-1, Norwegian type 261100
Tags
Green Green List (high evidence)
ANKS6
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Nephronophthisis 16 615382
Tags
Green Green List (high evidence)
ANOS1
6 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
  • Kallman syndrome
  • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)
Tags
Green Green List (high evidence)
ARHGDIA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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
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 Green
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 2 612922
Tags
Green Green List (high evidence)
CEP164
3 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)
CFB
1 review
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
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
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
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 3 612923
Tags
Green Green List (high evidence)
CHD7
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
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
Phenotypes
  • Nephrolithiasis, type I, 310468
  • Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990
  • Dent disease, 300009
  • Hypophosphatemic rickets, 300554
Tags
Green Green List (high evidence)
COL4A1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • haematuria
  • tortuous retinal vessels
  • intracranial anuerysms
  • Exophytic renal cysts
  • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773
  • raised creatinine kinase
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
  • Expert Review Green
Phenotypes
  • Alport syndrome, autosomal dominant, 104200
  • Hematuria, benign familial, 141200
  • Alport syndrome, autosomal recessive, 203780
Tags
Green Green List (high evidence)
COL4A4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
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
  • Expert Review Green
Phenotypes
  • Alport syndrome 301050
Tags
Green Green List (high evidence)
COQ2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Coenzyme Q10 deficiency, primary, 1 301050
Tags
Green Green List (high evidence)
COQ6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
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
  • 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
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • {Hemolytic uremic syndrome, atypical, susceptibility to, 7} 615008
  • Nephrotic syndrome, type 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
  • end stage renal failure
  • non-enlarged kidney
  • cystic kidney disease
  • Polycystic kidney disease
  • Tubulointerstitial kidney disease
Tags
Green Green List (high evidence)
DSTYK
5 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Renal hypodysplasia
  • vesicoureteric reflux
  • {Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805
  • ureteropelvic junction obstruction
  • CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1
  • {Congenital anomalies of kidney and urinary tract, susceptibility to}
Tags
Green Green List (high evidence)
DZIP1L
2 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
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Branchiootorenal syndrome 1, with or without cataracts, 113650
  • Anterior segment anomalies with or without cataract, 113650
  • Branchiootic syndrome 1, 602588
  • Otofaciocervical syndrome, 166780
  • Branchiootorenal syndrome 1, with or without cataracts
  • Branchiootorenal Spectrum Disorders
Tags
Green Green List (high evidence)
FRAS1
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Fraser syndrome
  • Fraser syndrome 219000
Tags
Green Green List (high evidence)
FREM1
4 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
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Fraser syndrome
  • Fraser syndrome 219000
Tags
Green Green List (high evidence)
GANAB
3 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
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Hypoparathyroidism, Sensorineural Deafness, and Renal Disease
  • Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255
Tags
Green Green List (high evidence)
GLI3
3 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
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • isolated CAKUT
  • Fraser syndrome
  • Fraser syndrome 219000
Tags
Green Green List (high evidence)
HAAO
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Multiple congenital malformations
  • VACTERL-like phenotype
Tags
Green Green List (high evidence)
HNF1B
8 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Renal cysts and diabetes syndrome 137920
  • Diabetes mellitus, noninsulin-dependent 125853
  • {Renal cell carcinoma} 144700
  • Diabetes mellitus, noninsulin-dependent
  • Renal cysts and diabetes syndrome
Tags
Green Green List (high evidence)
HPSE2
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Urofacial syndrome 1 236730
  • Urofacial Syndrome
  • Congenital bladder disease: dyssynergic, high pressure bladder
Tags
Green Green List (high evidence)
INF2
1 review
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
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Nephronophthisis 2, infantile 602088
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
  • 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
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 609583
  • 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
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
  • Expert Review Green
Phenotypes
  • Autism Spectrum Disorder
  • global developmental delay
  • RCAD syndrome
  • delayed development, intellectual disability
  • Chromosome 17q12 deletion syndrome
  • utero-vaginal atresia
  • Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females
  • Schizophrenia
  • 614527
  • Renal cysts and diabetes syndrome
Tags
Green Green List (high evidence)
ITGA3
1 review
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
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Renal hypodysplasia/aplasia 1, 191830
Tags
Green Green List (high evidence)
KYNU
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism)
  • VACTERL-like phenotype
  • multiple congenital malformations
  • ?Hydroxykynureninuria, 236800
Tags
Green Green List (high evidence)
LAMB2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
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
  • Expert Review Green
Phenotypes
  • Nail-patella syndrome 161200
Tags
Green Green List (high evidence)
LRIG2
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital bladder disease: dyssynergic, high pressure bladder.
  • Urofacial syndrome 2 615112
  • Urofacial syndrome
Tags
Green Green List (high evidence)
MUC1
6 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Medullary cystic kidney disease 1
  • Medullary cystic kidney disease 1, 174000
Tags
Green Green List (high evidence)
MYH9
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Fechtner syndrome 153640
  • Epstein syndrome 153650
Tags
Green Green List (high evidence)
MYO1E
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glomerulosclerosis, focal segmental, 6 614131
Tags
Green Green List (high evidence)
NPHP1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Joubert syndrome 4 609583
  • Nephronophthisis 1, juvenile 256100
  • Senior-Loken syndrome-1 266900
Tags
Green Green List (high evidence)
NPHP3
6 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Renal-hepatic-pancreatic dysplasia 1, 208540
  • Nephronophthisis 3, 604387
  • Renal-Hepatic-Pancreatic Dysplasia
  • Meckel syndrome 7, 267010
  • Nephronophthisis 3, 604387
  • Renal-hepatic-pancreatic dysplasia 1, 208540
  • Meckel syndrome 7, 267010
Tags
Green Green List (high evidence)
NPHP4
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Nephronophthisis 4 606966
  • Senior-Loken syndrome 4 606996
Tags
Green Green List (high evidence)
NPHS1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nephrotic syndrome, type 1 256300
Tags
Green Green List (high evidence)
NPHS2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
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
Phenotypes
  • Nephrotic syndrome, type 11 616730
Tags
Green Green List (high evidence)
NUP93
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nephrotic syndrome, type 12 616892
Tags
Green Green List (high evidence)
OFD1
4 reviews
2 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 10 300804
  • Simpson-Golabi-Behmel syndrome, type 2 300209 XLR
Tags
Green Green List (high evidence)
PAX2
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Papillorenal syndrome
  • Papillorenal syndrome, 120330
  • Glomerulosclerosis, focal segmental, 7
  • Glomerulosclerosis, focal segmental, 7 616002
  • RENAL-COLOBOMA SYNDROME
Tags
Green Green List (high evidence)
PBX1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • CAKUT
Tags
Green Green List (high evidence)
PKD1
4 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
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 2, 613095
  • Polycystic Kidney Disease, Autosomal Dominant
Tags
Green Green List (high evidence)
PKHD1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Autosomal Recessive Polycystic Kidney Disease
  • Polycystic Kidney Disease, Autosomal Recessive
  • Polycystic kidney and hepatic disease, 263200
Tags
Green Green List (high evidence)
PLCE1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nephrotic syndrome, type 3 610725
Tags
Green Green List (high evidence)
REN
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Renal Tubular Dysgenesis
  • [Hyperproreninemia]
  • Hyperuricemic nephropathy, familial juvenile 2613092
  • Renal tubular dysgenesis 267430
Tags
Green Green List (high evidence)
RET
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Multiple endocrine neoplasia IIA, 171400
  • Central hypoventilation syndrome, congenital, 209880
  • Pheochromocytoma, 171300
  • Renal agenesis, 191830
  • Multiple endocrine neoplasia IIB, 162300
  • 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
  • Medullary thyroid carcinoma, 155240
  • {Hirschsprung disease, susceptibility to, 1}, 142623
  • Renal Adysplasia
Tags
Green Green List (high evidence)
RPGRIP1L
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • COACH syndrome 216360
  • Joubert syndrome 7 611560
  • Meckel syndrome 5 611561
Tags
Green Green List (high evidence)
RRM2B
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic,renal tubulopathy), 612075
  • 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
4 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
1 review
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nephrotic syndrome 14 617575
Tags
Green Green List (high evidence)
SIX5
4 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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Schimke immunoosseous dysplasia 242900
Tags
Green Green List (high evidence)
TBX18
5 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
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • COACH syndrome 216360
  • Nephronophthisis 11 613550
  • Joubert syndrome 6 610688
  • Meckel syndrome 3 607361
  • {Bardet-Biedl syndrome 14, modifier of} 615991
Tags
Green Green List (high evidence)
TRAP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • VACTERL 192350
  • CAKUT
Tags
Green Green List (high evidence)
TRPC6
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Glomerulosclerosis, focal segmental, 2 603965
Tags
Green Green List (high evidence)
TSC1
4 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
3 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
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Nephronophthisis 12 613820
Tags
Green Green List (high evidence)
UMOD
5 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886
  • Medullary cystic kidney disease 2 603860
  • Hyperuricemic nephropathy, familial juvenile 1, 162000
  • Medullary Cystic Kidney Disease 2
  • Hyperuricemic nephropathy, familial juvenile 1 162000
  • Uromodulin-associated kidney disease
Tags
Green Green List (high evidence)
VHL
3 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
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis
  • Arthrogryposis, renal dysfunction, and cholestasis 1, 208085
  • Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
  • Arthrogryposis, renal dysfunction, and cholestasis 1
Tags
Green Green List (high evidence)
WT1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Nephrotic syndrome, type 4 256370
Tags
Green Green List (high evidence)
BNC2
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Posterior urethral valves
  • PUV
  • Congenital lower urinary-tract obstruction
Tags
Green Green List (high evidence)
CEP83
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • NEPHRONOPHTHISIS 18
Tags
Green Green List (high evidence)
MAPKBP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • NEPHRONOPHTHISIS 20
Tags
Green Green List (high evidence)
WDR19
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Nephronophthisis 13
  • Senior-Loken
Tags
Amber Amber List (moderate evidence)
CEP290
4 reviews
2 green
Unknown
Sources
  • Expert Review Amber
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
ACTA2
2 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
2 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
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
ALMS1
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
APOL1
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
ARHGAP24
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
ARL13B
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
ARL6
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
BBS1
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
BBS10
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
BBS12
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
BBS2
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
BBS4
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
BBS5
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
BBS9
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
BICC1
3 reviews
3 red
Unknown
Sources
  • Expert Review Red
Phenotypes
  • {Renal dysplasia, cystic, susceptibility to}, 601331
Tags
Red Red List (low evidence)
BMP4
1 review
1 red
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
BSND
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Bartter syndrome, type 4a, 602522
  • Sensorineural deafness with mild renal dysfunction, 602522
Tags
Red Red List (low evidence)
C5orf42
3 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
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
CCDC28B
2 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
CD151
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
CD2AP
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
CEP41
2 reviews
1 green
Unknown
Sources
  • 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 Red
Phenotypes
  • macroscopic haematuria
  • kidney failure
  • Haematuria
  • C3 glomerulopathy
Tags
Red Red List (low evidence)
CHD1L
1 review
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
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Prune Belly-Like Syndrome
  • Low pressure congenital megabladder
Tags
Red Red List (low evidence)
COL4A6
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • 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)
  • diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5
Tags
Red Red List (low evidence)
COX10
2 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
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
DACT1
1 review
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
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • (originally on the Imerslund-Grasbeck syndrome gene panel)
  • Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839
Tags
Red Red List (low evidence)
DLG3
1 review
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
E2F3
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
FOXC1
1 review
1 red
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
FOXC2
1 review
1 red
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
GDNF
1 review
1 red
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
GIF
1 review
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
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 Red
Tags
Red Red List (low evidence)
GLIS2
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
GREM1
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
HCN3
1 review
1 red
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
INPP5E
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
IQCB1
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
ITGB4
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
KANK2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome
Tags
Red Red List (low evidence)
KIF7
1 review
1 red
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
KIT
1 review
1 red
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
MKS1
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
MTR
0 reviews
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
0 reviews
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
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome
Tags
Red Red List (low evidence)
NEK8
3 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)
OCRL
3 reviews
1 green 1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
PDSS2
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
PMM2
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
PRKCSH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
PTPRO
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
ROBO2
4 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Vesicoureteral reflux 2, 610878
  • Vesicoureteral Reflux
Tags
Red Red List (low evidence)
SDCCAG8
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
SEC63
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
SHH
1 review
1 red
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
SIX1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Branchiootorenal Spectrum Disorders
Tags
Red Red List (low evidence)
SLC19A2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
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
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
1 review
1 red
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
SMARCA4
1 review
1 red
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
SOX17
1 review
1 red
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Vesicoureteral reflux 3, 613674
Tags
Red Red List (low evidence)
SPRY1
1 review
1 red
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
TCTN1
2 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
TCTN3
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
TMEM138
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
TMEM216
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
TMEM231
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
TMEM237
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
TNXB
1 review
1 red
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
TRIM32
1 review
1 red
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
TSHZ3
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
TTC8
1 review
1 red
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
UPK2
2 reviews
2 red
Other - please specifiy in evaluation comments
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
UPK3A
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Renal Adysplasia
Tags
Red Red List (low evidence)
VIPAS39
2 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
1 review
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
XPNPEP3
1 review
1 red
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
ZMPSTE24
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
ZNF423
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags

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