Description
This panel is used for clinical indication 'R257 Unexplained young onset end-stage renal disease'  in the NHS Genomic Medicine Service.

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 young onset end-stage renal disease'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

25 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

  • Moin Saleem (University of Bristol)

    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

  • Rebecca Foulger (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

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

  • 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

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)

    Group: Other NHS organisation
    Workplace: NHS diagnostic lab

  • Catherine Snow (Genomics England)

    Group: Other
    Workplace: Other

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Yu Leng Phua (Icahn School of Medicine at Mount Sinai and ClinGen)

    Group: Other
    Workplace: Other diagnostic lab

  • Achchuthan Shanmugasundram (Genomics England Curator)

    Group: Other
    Workplace: Other

305 Entities

305 reviewed, 183 green

List Entity Reviews Mode of inheritance Details
305 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)
AGXT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hyperoxaluria, primary, type 1, 259900
  • Primary Hyperoxaluria
  • Hyperoxaluria
  • primary hyperoxaluria
  • Primary Hyperoxaluria Type 1
Tags
Green Green List (high evidence)
AHI1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Joubert syndrome-3 608629
Tags
Green Green List (high evidence)
ALMS1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Alstrom Syndrome
  • Bardet-Biedl Syndrome
  • 203800
  • Alstrom syndrome
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, biallelic mutations in females
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)
ARL13B
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Joubert syndrome type 8 612291
Tags
Green Green List (high evidence)
ARL6
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Bardel-Biedl syndrome type 3 600151
Tags
Green Green List (high evidence)
ARMC9
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Joubert syndrome 30, 617622
Tags
Green Green List (high evidence)
B9D2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Joubert syndrome 34, OMIM:614175
  • Meckel syndrome 10, OMIM:614175
  • Meckel syndrome, type 10, MONDO:0013609
Tags
Green Green List (high evidence)
BBS1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Bardet-Biedl syndrome 1 OMIM:209900
  • Bardet-Biedl syndrome 1 MONDO:0008854
Tags
Green Green List (high evidence)
BBS10
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Bardet-Biedl syndrome 10 615987
Tags
Green Green List (high evidence)
BBS12
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Bardet-Biedl syndrome 12 615989
Tags
Green Green List (high evidence)
BBS2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Bardet-Biedl syndrome 2 615981
Tags
Green Green List (high evidence)
BBS4
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Bardet-Biedl syndrome 4 615982
Tags
Green Green List (high evidence)
BBS5
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Bardet-Biedl syndrome 5 615983
Tags
Green Green List (high evidence)
BBS7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Bardet Biedl syndrome 7
Tags
Green Green List (high evidence)
BBS9
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Bardet-Biedl syndrome 9 615986
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
  • Lower urinary tract obstruction, congenital, 618612
Tags
Green Green List (high evidence)
BSND
4 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
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)
C5orf42
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Joubert syndrome 17 614615
Tags
  • new-gene-name
Green Green List (high evidence)
CC2D2A
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Joubert syndrome 9 612285
  • Meckel syndrome 6 612284
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)
CENPF
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Stromme syndrome, 243605
  • Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Tags
Green Green List (high evidence)
CEP104
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Joubert syndrome 25
  • Joubert syndrome 25, 616781
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)
CEP290
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Joubert syndrome 5 610188lLeber congenital amaurosis 10 611755
Tags
Green Green List (high evidence)
CEP41
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Joubert syndrome 15 614464
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)
CFHR1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • IC-MPGN
  • Immune-complex-mediated MPGN
  • C3 glomerulopathy
  • Immune complex MPGN
  • Hemolytic uremic syndrome, atypical, susceptibility to, 235400
  • C3G
Tags
Green Green List (high evidence)
CFHR3
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to 235400
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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 3 612923
  • Complement factor I deficiency, OMIM:610984
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)
CHRM3
6 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Prune belly syndrome, OMIM:100100
  • Megacystis
  • Urinary Bladder Disease
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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Alport syndrome 2, autosomal recessive, OMIM:203780
  • Hematuria,familial benign, OMIM:141200
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, OMIM:607426
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)
CRB2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Ventriculomegaly with cystic kidney disease 219730
Tags
Green Green List (high evidence)
CSPP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Meckel syndrome
  • Joubert syndrome 21
  • Joubert syndrome
  • Meckel-Gruber syndrome
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)
DDX59
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
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)
DHCR7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Smith-Lemli-Opitz syndrome 270400
Tags
Green Green List (high evidence)
DLC1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Childhood and adult SSNS and SRNS
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)
DYNC2H1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091
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)
FAN1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • interstitial nephritis
  • chronic kidney disease
  • Interstitial nephritis, karyomegalic, OMIM:614817
  • karyomegalic interstitial nephritis, MONDO:0013898
Tags
Green Green List (high evidence)
FAT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Glomerulotubular nephropathy
Tags
  • gene-checked
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)
GATM
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Fanconi renotubular syndrome 1, OMIM:134600
Tags
Green Green List (high 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 Green
Phenotypes
  • Fabry disease, 301500
  • renal insufficiency
  • renal failure
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)
GRHPR
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Primary Hyperoxaluria
  • Primary Hyperoxaluria Type 2
  • Hyperoxaluria, primary, type II, 260000
  • Hyperoxaluria
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)
HOGA1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hyperoxaluria
  • Primary Hyperoxaluria
  • Hyperoxaluria, primary, type III, 613616
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)
HYLS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hydrolethalus syndrome, 236680
  • Joubert syndrome
Tags
Green Green List (high evidence)
ICK
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Endocrine-cerebroosteodysplasia, OMIM:612651
  • Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Tags
  • new-gene-name
Green Green List (high evidence)
IFT122
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cranioectodermal dysplasia 1, 218330
  • Cranioectodermal dysplasia
Tags
Green Green List (high evidence)
IFT43
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cranioectodermal dysplasia 3, 614099
  • Sensenbrenner syndrome
  • Short-rib thoracic dysplasia 18 with polydactyly, 617866
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)
INPP5E
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Joubert syndrome 1 213300
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)
IQCB1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Senior-Loken syndrome 5 609254
Tags
Green Green List (high evidence)
11p13 (WAGR syndrome) region Loss
ISCA-37401-Loss
Region
2 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
2 reviews
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
2 reviews
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)
ITSN1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Early childhood SSNS
Tags
  • gene-checked
Green Green List (high evidence)
KIAA0586
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Joubert syndrome 23
  • Joubert syndrome
  • Short-rib thoracic dysplasia 14 with polydactyly
  • Short-rib dysplasia 14 with polydactyly
Tags
Green Green List (high evidence)
KIAA0753
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Short-rib skeletal dysplasia
  • ?Orofaciodigital syndrome XV 617127
  • Joubert syndrome
Tags
Green Green List (high evidence)
KIF7
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Acrocallosal syndrome 200990
  • Joubert syndrome 12 200990
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)
LAGE3
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Galloway-Mowat syndrome 2, X-linked #301006
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)
LZTFL1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Bardet-Biedl syndrome 17, 615994
Tags
Green Green List (high evidence)
MAGI2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Nephrotic syndrome, type 15 617609
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)
MKKS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Bardet Biedl syndrome 6
  • 236700
Tags
Green Green List (high evidence)
MKS1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Bardet-Biedl syndrome 13 615990
  • Meckel syndrome 1 249000
Tags
Green Green List (high evidence)
MMACHC
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type, 277400
Tags
Green Green List (high evidence)
MT-TF
2 reviews
1 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • renal insufficiency
  • Tubulointerstitial kidney disease
  • tubulointerstitial nephritis
  • renal failur
Tags
  • gene-checked
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)
NEK8
4 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • ?Nephronophthisis 9, 613824?Renal-hepatic-pancreatic dysplasia 2, 615415
Tags
Green Green List (high evidence)
NPHP1
5 reviews
2 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)
NUP133
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Nephrotic syndrome, type 18 618177
  • ?Galloway-Mowat syndrome 8 618349
Tags
Green Green List (high evidence)
NUP85
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Nephrotic syndrome, type 17 #618176
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, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Lowe syndrome, OMIM:309000
  • Dent disease 2, OMIM: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)
OSGEP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Galloway-Mowat syndrome 3 617729
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)
PMM2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Ia 212065
Tags
Green Green List (high evidence)
PODXL
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Congenital nephrotic syndrome
Tags
  • gene-checked
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
6 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
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)
SDCCAG8
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Bardet-Biedl syndrome 16 615993
  • Senior-Loken syndrome 7 613615
Tags
Green Green List (high evidence)
SEC61A1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Hyperuricemic nephropathy, familial juvenile, 4 617056
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)
SLC22A12
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hypouricemia, renal, 220150
Tags
Green Green List (high evidence)
SLC2A9
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • {Uric acid concentration, serum, QTL 2}, 612076
  • Hypouricemia, renal, 2, 612076
Tags
Green Green List (high evidence)
SLC3A1
1 review
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Cystinuria 220100
Tags
Green Green List (high evidence)
SLC7A9
1 review
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Cystinuria 220100
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)
TBC1D8B
3 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Nephrotic syndrome, type 20, OMIM:301028
Tags
  • gene-checked
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)
TCTN1
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Joubert syndrome 13 614173
Tags
Green Green List (high evidence)
TCTN2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Meckel syndrome
  • Joubert syndrome, Meckel-Gruber syndrome
  • Joubert syndrome 24
Tags
Green Green List (high evidence)
TCTN3
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Joubert syndrome 18 614815
Tags
Green Green List (high evidence)
TMEM107
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?Joubert syndrome 29 617562
  • Meckel syndrome 13 617562
  • Orofaciodigital syndrome XVI 617563
Tags
Green Green List (high evidence)
TMEM138
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Joubert syndrome 16 614465
Tags
Green Green List (high evidence)
TMEM216
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Joubert syndrome 2 608091
  • Meckel syndrome 2 603194
Tags
Green Green List (high evidence)
TMEM231
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Joubert syndrome 20 614970
  • Meckel syndrome 11 615397
Tags
Green Green List (high evidence)
TMEM237
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Joubert syndrome 14 614424
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)
TNS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • nephrotic syndrome
Tags
  • gene-checked
Green Green List (high evidence)
TP53RK
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Galloway-Mowat syndrome 4 #617730
Tags
Green Green List (high evidence)
TRAF3IP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Senior-Loken syndrome 9 616629
Tags
Green Green List (high evidence)
TRAP1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • CAKUT
  • VACTERL 192350
Tags
  • gene-checked
Green Green List (high evidence)
TRIM8
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • nephrotic syndrome
  • epilepsy
  • Focal segmental glomerulosclerosis and neurodevelopmental syndrome, OMIM:619428
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
  • NHS GMS
Phenotypes
  • Nephronophthisis 12 613820
  • Ciliopathy genes associated with cystic kidney disease
Tags
Green Green List (high evidence)
TTC8
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Bardet-Biedl syndrome 8 615985
Tags
Green Green List (high evidence)
TXNDC15
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • MGS
  • Meckel-Gruber syndrome
Tags
  • gene-checked
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)
VIPAS39
5 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404
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)
WDPCP
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • ?Bardet-Biedl syndrome 15 615992
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)
WDR35
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Short-rib thoracic dysplasia 7 with or without polydactyly
  • Cranioectodermal dysplasia 2, 613610
  • Cranioectodermal dysplasia
  • Short-rib thoracic dysplasia 7 with or without polydactyly, 614091
Tags
Green Green List (high evidence)
WDR60
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Short-rib thoracic dysplasia 8 with or without polydactyly, 615503
  • SHORT-RIB POLYDACTYLY
  • Short-rib thoracic dysplasia 8 with or without polydactyly
  • Jeune syndrome
Tags
  • new-gene-name
Green Green List (high evidence)
WDR73
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Galloway-Mowat syndrome 1 #251300
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
Green Green List (high evidence)
XDH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Xanthinuria, type I, 278300
Tags
Green Green List (high evidence)
XPNPEP3
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Nephronophthisis-like nephropathy 1 OMIM:613159
  • nephronophthisis-like nephropathy 1 MONDO:0013163
Tags
Amber Amber List (moderate evidence)
ALG5
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Polycystic kidney disease 7, OMIM:620056
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
ALG8
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • cystic liver disease
  • cystic kidney disease
  • Polycystic liver disease 3 with or without kidney cysts, 617874
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
ALG9
1 review
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • cystic liver disease
  • cystic kidney disease
  • Gillessen-Kaesbach-Nishimura syndrome, 263210
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
AP2S1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Familial hypocalciuric hypercalcemia type III 600740
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
APOA1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Amyloidosis, 3 or more types OMIM:105200
  • familial visceral amyloidosis MONDO:0007099
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
APOA2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
APOC2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
APOE
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Lipoprotein glomerulopathy, OMIM:611771
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
APRT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Adenine phosphoribosyltransferase deficiency, OMIM:614723
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
AQP2
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Nephrogenic diabetes insipidus
  • Diabetes insipidus, nephrogenic, 125800
Tags
Amber Amber List (moderate evidence)
ATP1A1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Hypomagnesemia, seizures, and mental retardation 2 618314
  • Charcot-Marie-Tooth disease, axonal, type 2DD, 618036
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
ATP6V0A4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Distal renal tubular acidosis 3, with or without sensorineural hearing loss, OMIM:602722
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
ATP6V1B1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Renal tubular acidosis with deafness 267300
  • distal renal tubular acidosis
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
AVPR2
1 review
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 Amber
  • NHS GMS
Phenotypes
  • Nephrogenic syndrome of inappropriate antidiuresis, OMIM:300539
  • Diabetes insipidus, nephrogenic, OMIM:304800
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
CA2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Osteopetrosis, autosomal recessive 3, with renal tubular acidosis
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
CASR
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Hypocalcemia (dominant)
  • Hypocalciuric hypercalcemia, type I, 145980Hyperparathyroidism, neonatal, 239200Hypocalcemia, autosomal dominant, 601198Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198{Epilepsy idiopathic generalized, susceptibility to,
  • Familial Hypocalciuric Hypercalcemia (dominant)
  • hypocalciuric hypercalcaemia
  • Familial Hypocalciuric Hypercalcemia
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
CD151
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Epidermolysis bullosa simplex 7, with nephropathy and deafness, OMIM:609057
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
CFHR2
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Immune complex MPGN
  • IC-MPGN
  • C3 glomerulopathy
  • C3G
  • Immune-complex-mediated MPGN
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
CLCNKB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Bartter syndrome, type 3, OMIM:607364
  • Bartter disease type 3, MONDO:0011822
Tags
  • monogenic-polygenic
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
CLDN10
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • HELIX syndrome, OMIM:617671
  • Hypokalemic-alkalotic salt-losing tubulopathy
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
CLDN16
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Hypomagnesemia 3, renal, OMIM: 248250
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
CLDN19
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • hypomagensemia with nephrocalcinosis
  • Hypomagnesemia 5, renal, with ocular involvement
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
CNNM2
1 review
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Hypomagnesemia, seizures, and mental retardation, OMIM:616418
  • renal hypomagnesemia 6, MONDO:0013480
  • Hypomagnesemia, seizures, and mental retardation, MONDO:0014631
  • Hypomagnesemia 6, renal, OMIM:613882
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
CUL3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Pseudohypoaldosteronism, type IIE, 214496
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
CYP24A1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Infantile hypercalcaemia
  • Infantile Hypercalcemia
  • Hypercalcemia, infantile, 143880
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
DAAM2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • steroid-resistant nephrotic syndrome MONDO:0044765
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
DLG5
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • DLG5-associated developmental disorder (monoallelic)
  • DLG5-associated developmental disorder (biallelic)
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
EMP2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • steroid sensitive nephrotic syndrome
  • Nephrotic syndrome, type 10 #615861
Tags
Amber Amber List (moderate evidence)
FAH
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Tyrosinemia, type I, OMIM:276700
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
FAM20A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Amelogenesis imperfecta, type IG (enamel-renal syndrome) 204690
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
FGA
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Amyloidosis, familial visceral, OMIM:105200
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
FLCN
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Birt-Hogg-Dube syndrome, OMIM:135150
  • renal cell carcinoma
  • renal cysts
  • pneumothorax
  • renal oncocytoma
  • pulmonary cysts
  • cutaneous fibrofolliculoma
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
FN1
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Glomerulopathy with fibronectin deposits 2, OMIM:601894
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
GNA11
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Hypocalcemia, autosomal dominant 2 615361
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
GON7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Galloway-Mowat syndrome MONDO:0009627
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
GSN
1 review
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Amyloidosis, Finnish type, OMIM:105120
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
HNF4A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM:616026
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
HPRT1
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Lesch-Nyhan syndrome, OMIM:300322
  • Hyperuricemia, HRPT-related, OMIM:300323
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
IFT140
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM:266920
  • cystic kidney disease, MONDO:0002473
  • short-rib thoracic dysplasia 9 with or without polydactyly, MONDO:0009964
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
IFT172
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Short-rib thoracic dysplasia 10 with or without polydactyly, OMIM:615630
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
IFT27
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • ?Bardet-Biedl syndrome 19, OMIM:615996
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
KCNJ1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • often initial transient hyperkalemia
  • Antenatal Bartter Syndrome
  • Bartter syndrome, type 2, 241200
  • Type 2 Bartter syndrome
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
KCNJ10
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • SESAME/EAST syndrome, 612780
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
KCNJ16
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Hypokalemic tubulopathy and deafness, OMIM:619406
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
KLHL3
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Pseudohypoaldosteronism, type IID, 614495
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
LCAT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Norum disease, OMIM:245900
  • Norum disease, MONDO:0009515
  • LCAT DEFICIENCY
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
LYZ
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Amyloidosis, renal 105200
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
MAGED2
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Bartter syndrome, type 5, antenatal, transient, 300971
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
MOCOS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Xanthinuria, type II, OMIM:603592
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
NR3C2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 no inheritance pattern
  • Pseudohypoaldosteronism type I, autosomal dominant, 177735
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
PDSS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Coenzyme Q10 deficiency, primary, 3, OMIM:614652
  • Leigh syndrome, MONDO:0009723
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
PHEX
1 review
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 Amber
  • NHS GMS
Phenotypes
  • Hypophosphatemic rickets, X-linked dominant 307800
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
PRKCSH
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Polycystic liver disease 1 with or without kidney cysts, OMIM:174050
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
RMND1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Combined oxidative phosphorylation deficiency 11, OMIM:614922
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
RRAGD
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • salt wasting
  • tubular renal disease-cardiomyopathy syndrome, MONDO:0019130
  • cardiomyopathy
  • hypomagnesaemia
  • nephrocalcinosis
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
SARS2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Progressive Spastic Paresis
  • Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, OMIM:613845
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
SCNN1A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Pseudohypoaldosteronism, type I, 264350
  • ?Liddle syndrom 3, 618126
  • Bronchiectasis with or without elevated sweat chloride 2 613021
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
SCNN1B
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Pseudohypoaldosteronism, type I, 264350
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
SCNN1G
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Pseudohypoaldosteronism, type I, 264350
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
SEC63
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Polycystic liver disease 2 with or without kidney cysts, OMIM:617004
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
SLC12A1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Bartter syndrome, type 1, OMIM:601678
  • Bartter disease type 1, MONDO:0100344
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
SLC12A3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Gitelman syndrome, OMIM: 263800
  • Gitelman syndrome, MONDO:0009904
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
SLC2A2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Fanconi-Bickel syndrome, OMIM:227810
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
SLC34A1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Nephrolithiasis with osteoporosis and hypophosphatemia
  • Hypophosphatemic Nephrolithiasis/Osteoporosis (recessive)
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286
  • Hypophosphatemic Nephrolithiasis/Osteoporosis
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
SLC34A3
1 review
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • hereditary hypophosphatemic rickets with hypercalciuria, MONDO:0009431
  • HHRH
  • Hypophosphatemic rickets with hypercalciuria, OMIM:241530
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
SLC4A1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Renal tubular acidosis, distal, AR 611590
  • distal renal tubular acidosis
  • Renal tubular acidosis, distal, AD, 179800
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
SLC4A4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Renal tubular acidosis, proximal, with ocular abnormalities, 604278
  • Proximal Renal Tubular Acidosis with Ocular Abnormalities
  • Proximal Renal Tubular Acidosis with Ocular Abnormalities (recessive).
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
SLC5A2
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Renal glucosuria, 233100
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
STRADA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
TPRKB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Galloway-Mowat syndrome 5, OMIM:617731
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
TRPM6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Hypomagnesemia 1, intestinal, 602014
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
TTR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Amyloidosis, hereditary, transthyretin-related 105210
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
TULP3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Hepatorenocardiac degenerative fibrosis, OMIM:619902
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
WDR72
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • hereditary distal renal tubular acidosis
  • distal renal tubular acidosis, MONDO:0015827
  • Amelogenesis imperfecta, type IIA3, OMIM:613211
  • amelogenesis imperfecta hypomaturation type 2A3, MONDO:0013181
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
WNK4
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Pseudohypoaldosteronism, type IIB, 614491
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
YRDC
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Galloway-Mowat syndrome MONDO:0009627
Tags
  • Q4_23_promote_green
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)
ALG1
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)
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)
CCDC28B
3 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
CD2AP
1 review
Unknown
Sources
  • Expert Review Red
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)
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
  • Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046
  • 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)
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)
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)
KIT
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
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)
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)
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)
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)
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)
ZMPSTE24
1 review
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
ZNF423
1 review
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Joubert syndrome 19, OMIM:614844
  • Nephronophthisis 14, OMIM:614844
Tags

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