Description
This panel is a component of super panel 'Cystic renal disease'; it is not directly used for analysis in the NHS Genomic Medicine Service outside that context. Changes made to this panel will automatically be updated in the relevant super panel(s).

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

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

7 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • John Sayer (Newcastle University)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Miranda Durkie (Genetics)

    Group: GeCIP domain
    Workplace: NHS diagnostic lab

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Anna de Burca (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

64 Entities

61 reviewed, 23 green

List Entity Reviews Mode of inheritance Details
64 Entitiess
Green Green List (high evidence)
2q13 recurrent region (includes NPHP1) Loss
ISCA-37405-Loss
Region
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • juvenile nephronophthisis 1: including growth retardation. Joubert syndrome: multisystem disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (resulting in the 'molar tooth sign,' or MTS, on axial MRI), mental retardation, hypotonia, irregular breathing pattern, and eye movement abnormalities
  • 266900
  • 609583
Tags
Green Green List (high evidence)
17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss
ISCA-37432-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • RCAD syndrome
  • utero-vaginal atresia
  • Schizophrenia
  • 614527
  • delayed development, intellectual disability
  • Renal cysts and diabetes syndrome
  • Autism Spectrum Disorder
  • Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females
  • Chromosome 17q12 deletion syndrome
  • global developmental delay
Tags
Green Green List (high evidence)
ANKS6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Green Green List (high evidence)
CEP164
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Green Green List (high evidence)
CEP83
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • NEPHRONOPHTHISIS 18
Tags
Green Green List (high evidence)
COL4A1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Exophytic renal cysts
  • raised creatinine kinase
  • tortuous retinal vessels
  • intracranial anuerysms
  • haematuria
  • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773
Tags
Green Green List (high evidence)
DNAJB11
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • cystic kidney disease
  • end stage renal failure
  • non-enlarged kidney
  • Polycystic kidney disease
  • Tubulointerstitial kidney disease
Tags
Green Green List (high evidence)
DZIP1L
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • ARPKD
  • Polycystic kidney disease 5 617610
Tags
Green Green List (high evidence)
GANAB
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Mild cystic kidney and liver disease
  • Polycyctic kidney disease 3
Tags
Green Green List (high evidence)
HNF1B
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • UKGTN
Phenotypes
  • Renal cysts and diabetes syndrome
Tags
Green Green List (high evidence)
INVS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Green Green List (high evidence)
MAPKBP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • NEPHRONOPHTHISIS 20
Tags
Green Green List (high evidence)
NPHP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Green Green List (high evidence)
NPHP3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Green Green List (high evidence)
NPHP4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Green Green List (high evidence)
PKD1
3 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Polycystic kidney disease, adult type I, 173900
Tags
Green Green List (high evidence)
PKD2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Polycystic Kidney Disease, Autosomal Dominant
  • Polycystic kidney disease 2, 613095
  • Autosomal Dominant Polycystic Kidney Disease
Tags
Green Green List (high evidence)
PKHD1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Autosomal Recessive Polycystic Kidney Disease
  • Polycystic Kidney Disease, Autosomal Recessive
  • Polycystic kidney and hepatic disease, 263200
Tags
Green Green List (high evidence)
TMEM67
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Green Green List (high evidence)
TSC1
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
Tags
Green Green List (high evidence)
TSC2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Green
Tags
Green Green List (high evidence)
TTC21B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Green Green List (high evidence)
UMOD
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Medullary Cystic Kidney Disease 2
  • Hyperuricemic nephropathy, familial juvenile 1, 162000
Tags
Green Green List (high evidence)
VHL
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Green
Tags
Green Green List (high evidence)
WDR19
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Nephronophthisis 13, Senior-Loken
Tags
Amber Amber List (moderate evidence)
CEP290
4 reviews
2 green
Not set
Sources
  • Expert
  • Expert Review Amber
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
AHI1
2 reviews
1 green
Not set
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
ARL13B
2 reviews
1 red
Not set
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
ARL6
2 reviews
1 green
Not set
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
BBS1
2 reviews
1 green
Not set
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
BBS10
2 reviews
1 green
Not set
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
BBS12
2 reviews
1 green
Not set
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
BBS2
2 reviews
1 green
Not set
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
BBS4
2 reviews
1 green
Not set
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
BBS5
2 reviews
1 green
Not set
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
BBS9
2 reviews
1 green
Not set
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
C5orf42
3 reviews
1 green
Not set
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
  • new-gene-name
Red Red List (low evidence)
CC2D2A
2 reviews
1 green
Not set
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
CCDC28B
2 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
CEP41
2 reviews
1 green
Not set
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
GLA
2 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
GLIS2
2 reviews
1 green
Not set
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
INPP5E
2 reviews
1 green
Not set
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
IQCB1
2 reviews
1 green
Not set
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
KIF7
1 review
1 red
Not set
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
MKS1
2 reviews
1 green
Not set
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
MUC1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Medullary cystic kidney disease 1, 174000
Tags
Red Red List (low evidence)
NEK8
2 reviews
1 green
Not set
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
OFD1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
PRKCSH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
RPGRIP1L
2 reviews
1 green
Not set
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
SDCCAG8
2 reviews
1 green
Not set
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
SEC63
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
TCTN1
2 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
TCTN3
2 reviews
1 green
Not set
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
TMEM138
2 reviews
1 green
Not set
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
TMEM216
2 reviews
1 green
Not set
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
TMEM231
2 reviews
1 green
Not set
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
TMEM237
2 reviews
1 green
Not set
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
TRIM32
1 review
1 red
Not set
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
TTC8
1 review
1 red
Not set
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
WDPCP
1 review
Not set
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
XPNPEP3
1 review
1 red
Not set
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
ZNF423
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags

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