Description
REFERENCE ONLY PANEL 

Gene list from Groopman et al 2019 (PMID: 30586318) 
Table S7 Diagnostic genetic findings and clinical implications

In this study they performed exome sequencing in a combined cohort of more than 3000 patients with chronic kidney disease.

Genes containing a diagnostic variant listed in Table S7 have been included on this panel.  The ratings are as follows:
Green - 3 or more cases reported in Table S7
Amber - 2 cases reported in Table S7
Red - 1 case reported in Table S7

Note: the cases may have presented with different clinical phenotypes

1 reviewer

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

66 Entities

66 reviewed, 21 green

List Entity Reviews Mode of inheritance Details
66 Entitiess
Green Green List (high evidence)
CLCN5
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
  • Expert Review Green
  • Literature
Phenotypes
  • Tubulointerstitial disease
  • Dent disease
  • Nephropathy of unknown origin
  • Glomerulopathy
  • MIM 300009
Tags
Green Green List (high evidence)
COL4A3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review green
  • Expert Review Green
  • Literature
Phenotypes
  • Hypertensive nephropathy
  • MIM 104200, 203780
  • Congenital or cystic renal disease
  • Nephropathy of unknown origin
  • Glomerulopathy
  • Thin basement membrane disease
  • Alport syndrome, autosomal dominant/recessive
  • 141200
Tags
Green Green List (high evidence)
COL4A4
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert review green
  • Expert Review Green
  • Literature
Phenotypes
  • MIM 203780
  • Hypertensive nephropathy
  • Congenital or cystic renal disease
  • Nephropathy of unknown origin
  • Glomerulopathy
  • Thin basement membrane disease
  • Alport syndrome, autosomal dominant/recessive
  • 141200
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
  • Expert Review Green
  • Literature
Phenotypes
  • MIM 301050
  • Congenital or cystic renal disease
  • Nephropathy of unknown origin
  • Alport syndrome, X-linked
  • Glomerulopathy
Tags
Green Green List (high evidence)
CREBBP
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review green
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital or cystic renal disease
  • Rubinstein-Taybi syndrome 1
  • Nephropathy of unknown origin
  • MIM 180849
  • Glomerulopathy
Tags
Green Green List (high evidence)
DHCR7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review green
  • Expert Review Green
  • Literature
Phenotypes
  • Tubulointerstitial disease
  • Congenital or cystic renal disease
  • Nephropathy of unknown origin
  • MIM 270400
  • Smith-Lemli-Opitz syndrome
Tags
Green Green List (high evidence)
EYA1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review green
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital or cystic renal disease
  • MIM 113650
  • Branchiootorenal syndrome 1 with or without cataracts
Tags
Green Green List (high evidence)
GLA
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
  • Expert Review Green
  • Literature
Phenotypes
  • Tubulointerstitial disease
  • Other
  • Fabry disease
  • MIM 301500
Tags
Green Green List (high evidence)
HBB
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review green
  • Expert Review Green
  • Literature
Phenotypes
  • Other
  • Nephropathy of unknown origin
  • Sickle cell disease
  • MIM 603903
Tags
Green Green List (high evidence)
HNF1A
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review green
  • Expert Review Green
  • Literature
Phenotypes
  • MODY type III
  • Nephropathy of unknown origin
  • Diabetic nephropathy
  • MIM 600496
Tags
Green Green List (high evidence)
INF2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review green
  • Expert Review Green
  • Literature
Phenotypes
  • Glomerulosclerosis focal segmental 5
  • Nephropathy of unknown origin
  • Hypertensive nephropathy
  • Glomerulopathy
  • MIM 613237
Tags
Green Green List (high evidence)
NPHP3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review green
  • Expert Review Green
  • Literature
Phenotypes
  • MIM 604387
  • Nephronophthisis 3
  • Nephropathy of unknown origin
  • Glomerulopathy
Tags
Green Green List (high evidence)
NPHP4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review green
  • Expert Review Green
  • Literature
Phenotypes
  • Nephropathy of unknown origin
  • MIM 606966
  • Nephronophthisis 4
Tags
Green Green List (high evidence)
NPHS2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review green
  • Expert Review Green
  • Literature
Phenotypes
  • Nephropathy of unknown origin
  • Hypertensive nephropathy
  • Glomerulopathy
  • Nephrotic syndrome type 2
  • MIM 600995
Tags
Green Green List (high evidence)
PAX2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review green
  • Expert Review Green
  • Literature
Phenotypes
  • MIM 616002
  • Congenital or cystic renal disease
  • Nephropathy of unknown origin
  • Glomerulosclerosis focal segmental 7
  • Glomerulopathy
  • Papillorenal syndrome
  • 120330
Tags
Green Green List (high evidence)
PKD1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review green
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital or cystic renal disease
  • Nephropathy of unknown origin
  • Polycystic kidney disease 1
  • MIM 173900
Tags
Green Green List (high evidence)
PKD2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review green
  • Expert Review Green
  • Literature
Phenotypes
  • Polycystic kidney disease 2
  • Congenital or cystic renal disease
  • MIM 613095
Tags
Green Green List (high evidence)
PKHD1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review green
  • Expert Review Green
  • Literature
Phenotypes
  • Polycystic kidney disease, autosomal recessive
  • Congenital or cystic renal disease
  • Nephropathy of unknown origin
  • MIM 263200
Tags
Green Green List (high evidence)
SLC12A3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review green
  • Expert Review Green
  • Literature
Phenotypes
  • Tubulointerstitial disease
  • MIM 263800
  • Glomerulopathy
  • Gitelman syndrome
Tags
Green Green List (high evidence)
TRPC6
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review green
  • Expert Review Green
  • Literature
Phenotypes
  • MIM 603965
  • Nephropathy of unknown origin
  • Glomerulopathy
  • Glomerulosclerosis focal segmental 2
Tags
Green Green List (high evidence)
UMOD
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review green
  • Expert Review Green
  • Literature
Phenotypes
  • Tubulointerstitial disease
  • Hypertensive nephropathy
  • 162000
  • Congenital or cystic renal disease
  • 603860
  • Nephropathy of unknown origin
  • Autosomal dominant tubulointerstitial kidney disease, UMOD-associated
  • Glomerulopathy
  • MIM 609886
Tags
Amber Amber List (moderate evidence)
AVP
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Exper review amber
  • Expert Review Amber
  • Literature
Phenotypes
  • MIM 125700
  • Congenital or cystic renal disease
  • Nephropathy of unknown origin
  • Diabetes insipidus, neurohypophyseal
Tags
Amber Amber List (moderate evidence)
CRB2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Exper review amber
  • Expert Review Amber
  • Literature
Phenotypes
  • Focal segmental glomerulosclerosis 9
  • Glomerulopathy
  • MIM 616220
Tags
Amber Amber List (moderate evidence)
NF1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Exper review amber
  • Expert Review Amber
  • Literature
Phenotypes
  • Congenital or cystic renal disease
  • MIM 162200
  • Neurofibromatosis type 1
Tags
Amber Amber List (moderate evidence)
NPHS1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Exper review amber
  • Expert Review Amber
  • Literature
Phenotypes
  • MIM 256300
  • Nephrotic syndrome type 1
  • Glomerulopathy
Tags
Amber Amber List (moderate evidence)
PTPN11
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Exper review amber
  • Expert Review Amber
  • Literature
Phenotypes
  • Noonan syndrome 1
  • MIM 163950
  • Nephropathy of unknown origin
  • Diabetic nephropathy
Tags
Amber Amber List (moderate evidence)
SLC3A1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Exper review amber
  • Expert Review Amber
  • Literature
Phenotypes
  • Tubulointerstitial disease
  • Congenital or cystic renal disease
  • Hypertensive nephropathy
  • Cystinuria
  • MIM 220100
Tags
Red Red List (low evidence)
ACTG2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review red
  • Expert Review Red
  • Literature
Phenotypes
  • MIM 155310
  • Congenital or cystic renal disease
  • Visceral myopathy
Tags
Red Red List (low evidence)
ANOS1
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 red
  • Expert Review Red
  • Literature
Phenotypes
  • MIM 308700
  • Glomerulopathy
  • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)
Tags
Red Red List (low evidence)
APOA1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review red
  • Expert Review Red
  • Literature
Phenotypes
  • MIM 105200
  • Amyloidosis, renal
  • Glomerulopathy
Tags
Red Red List (low evidence)
ATP6V1B1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review red
  • Expert Review Red
  • Literature
Phenotypes
  • Tubulointerstitial disease
  • MIM 267300
  • Renal tubular acidosis with deafness
Tags
Red Red List (low evidence)
CDKN1C
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review red
  • Expert Review Red
  • Literature
Phenotypes
  • Beckwith-Wiedemann syndrome
  • MIM 130650
  • Glomerulopathy
Tags
Red Red List (low evidence)
COL11A1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review red
  • Expert Review Red
  • Literature
Phenotypes
  • Stickler syndrome type II
  • Congenital or cystic renal disease
  • MIM 604841
Tags
Red Red List (low evidence)
FANCB
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 red
  • Expert Review Red
  • Literature
Phenotypes
  • Congenital or cystic renal disease
  • Fanconi anemia complementation group B
  • MIM 300514
Tags
Red Red List (low evidence)
FGFR2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review red
  • Expert Review Red
  • Literature
Phenotypes
  • Nephropathy of unknown origin
  • MIM 101600
  • Pfeiffer syndrome
Tags
Red Red List (low evidence)
HNF1B
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review red
  • Expert Review Red
  • Literature
Phenotypes
  • Congenital or cystic renal disease
  • MIM 137920
  • Renal cysts and diabetes syndrome
Tags
Red Red List (low evidence)
HNF4A
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review red
  • Expert Review Red
  • Literature
Phenotypes
  • MODY type I
  • Nephropathy of unknown origin
  • MIM 125850
Tags
Red Red List (low evidence)
IQCB1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review red
  • Expert Review Red
  • Literature
Phenotypes
  • Congenital or cystic renal disease
  • MIM 609254
  • Senior-Loken syndrome 5
Tags
Red Red List (low evidence)
JAG1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review red
  • Expert Review Red
  • Literature
Phenotypes
  • Congenital or cystic renal disease
  • Alagille syndrome 1
  • MIM 118450
Tags
Red Red List (low evidence)
KANSL1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review red
  • Expert Review Red
  • Literature
Phenotypes
  • Koolen-De Vries syndrome
  • Congenital or cystic renal disease
  • MIM 610443
Tags
Red Red List (low evidence)
KLHL3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review red
  • Expert Review Red
  • Literature
Phenotypes
  • Other
  • MIM 614495
  • Pseudohypoaldosteronism type IID
Tags
Red Red List (low evidence)
KRAS
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review red
  • Expert Review Red
  • Literature
Phenotypes
  • MIM 609942
  • Glomerulopathy
  • Noonan syndrome 3
Tags
Red Red List (low evidence)
LMX1B
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review red
  • Expert Review Red
  • Literature
Phenotypes
  • Nail-patella syndrome
  • MIM 161200
  • Glomerulopathy
Tags
Red Red List (low evidence)
LRIG2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review red
  • Expert Review Red
  • Literature
Phenotypes
  • Congenital or cystic renal disease
  • MIM 615112
  • Urofacial syndrome 2
Tags
Red Red List (low evidence)
MC4R
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review red
  • Expert Review Red
  • Literature
Phenotypes
  • Obesity autosomal dominant
  • Nephropathy of unknown origin
  • MIM 601665
Tags
Red Red List (low evidence)
MKKS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review red
  • Expert Review Red
  • Literature
Phenotypes
  • MIM 605231
  • Nephropathy of unknown origin
  • Bardet-Biedl syndrome 6
Tags
Red Red List (low evidence)
MYCN
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review red
  • Expert Review Red
  • Literature
Phenotypes
  • MIM 164280
  • Diabetic nephropathy
  • Feingold syndrome 1
Tags
Red Red List (low evidence)
MYH9
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review red
  • Expert Review Red
  • Literature
Phenotypes
  • Fechtner syndrome
  • Epstein syndrome
  • Nephropathy of unknown origin
  • 153640
  • MIM 153650
Tags
Red Red List (low evidence)
OCRL
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 red
  • Expert Review Red
  • Literature
Phenotypes
  • Nephropathy of unknown origin
  • MIM 300555
  • Dent disease 2
Tags
Red Red List (low evidence)
PLCE1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review red
  • Expert Review Red
  • Literature
Phenotypes
  • MIM 610725
  • Glomerulopathy
  • Nephrotic syndrome type 3
Tags
Red Red List (low evidence)
REN
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review red
  • Expert Review Red
  • Literature
Phenotypes
  • Tubulointerstitial disease
  • MIM 613092
  • Autosomal dominant tubulointerstitial kidney disease, REN-associated
Tags
Red Red List (low evidence)
RERE
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review red
  • Expert Review Red
  • Literature
Phenotypes
  • Congenital or cystic renal disease
  • MIM 616975
  • Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
Tags
Red Red List (low evidence)
ROBO2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review red
  • Expert Review Red
  • Literature
Phenotypes
  • Congenital or cystic renal disease
  • Vesicoureteral reflux 2
  • MIM 610878
Tags
Red Red List (low evidence)
SALL1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review red
  • Expert Review Red
  • Literature
Phenotypes
  • Townes-Brocks syndrome 1
  • Glomerulopathy
  • MIM 107480
Tags
Red Red List (low evidence)
SEC61A1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review red
  • Expert Review Red
  • Literature
Phenotypes
  • Congenital or cystic renal disease
  • MIM 617056
  • Hyperuricemic nephropathy familial juvenile 4
Tags
Red Red List (low evidence)
SLC16A12
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review red
  • Expert Review Red
  • Literature
Phenotypes
  • Tubulointerstitial disease
  • MIM 612018
  • Cataract 47 juvenile with microcornea
Tags
Red Red List (low evidence)
SLC26A1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review red
  • Expert Review Red
  • Literature
Phenotypes
  • MIM 167030
  • Nephropathy of unknown origin
  • Nephrolithiasis calcium oxalate
Tags
Red Red List (low evidence)
SLC34A3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review red
  • Expert Review Red
  • Literature
Phenotypes
  • MIM 241530
  • Nephropathy of unknown origin
  • Hypophosphatemic rickets with hypercalciuria
Tags
Red Red List (low evidence)
SLC4A1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review red
  • Expert Review Red
  • Literature
Phenotypes
  • Tubulointerstitial disease
  • Renal tubular acidosis distal, autosomal dominant
  • MIM 179800
Tags
Red Red List (low evidence)
SLC7A9
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review red
  • Expert Review Red
  • Literature
Phenotypes
  • Tubulointerstitial disease
  • Cystinuria
  • MIM 220100
Tags
Red Red List (low evidence)
SMARCAL1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert review red
  • Expert Review Red
  • Literature
Phenotypes
  • MIM 242900
  • Schimke immunoosseous dysplasia
  • Glomerulopathy
Tags
Red Red List (low evidence)
SMC1A
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 red
  • Expert Review Red
  • Literature
Phenotypes
  • Congenital or cystic renal disease
  • MIM 300590
  • Cornelia de Lange syndrome 2
Tags
Red Red List (low evidence)
TSC2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review red
  • Expert Review Red
  • Literature
Phenotypes
  • Other
  • MIM 613254
  • Tuberous sclerosis 2
Tags
Red Red List (low evidence)
TTC21B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review red
  • Expert Review Red
  • Literature
Phenotypes
  • Nephropathy of unknown origin
  • Nephronophthisis 12
  • MIM 613820
Tags
Red Red List (low evidence)
WDR19
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review red
  • Expert Review Red
  • Literature
Phenotypes
  • Congenital or cystic renal disease
  • MIM 614377
  • Nephronophthisis 13
Tags
Red Red List (low evidence)
WT1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review red
  • Expert Review Red
  • Literature
Phenotypes
  • MIM 256370
  • Nephrotic syndrome type 4
  • Glomerulopathy
Tags

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