PKD1

polycystin 1, transient receptor potential channel interacting
OMIM: 601313, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Red PKD1 in ClinGen_Familial thoracic aortic aneurysm and aortic dissection


Version 0.10

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • ClinGen
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection

Amber PKD1 in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.58
Latest signed off version: v2.2 (2 Mar 2020)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Yorkshire and North East GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Polycystic kidney disease, adult type I, OMIM:173900

Green PKD1 in Ductal plate malformation


Version 1.18

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Eligibility statement prior genetic testing
  • UKGTN
Phenotypes
  • Polycystic Kidney Disease 1 with or without polycystic liver disease (173900)

Green PKD1 in Polycystic liver disease interim


Version 1.23
Latest signed off version: v1.4 (4 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Eligibility statement prior genetic testing
  • UKGTN
Phenotypes
  • Polycystic kidney disease 1, OMIM:173900
  • Caroli disease, MONDO:0010913

Green PKD1 in Cystic kidney disease

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 2.26
Latest signed off version: v2.2 (19 Feb 2020)

Component of the following Super Panels:

  • Cystic renal disease
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • Expert
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Polycystic kidney disease, adult type I, 173900
    • Autosomal recessive polycystic kidney disease (ARPKD)
    • Autosomal dominant polycystic kidney disease (ADPKD)

    Green PKD1 in Unexplained kidney failure in young people

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 1.96

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Expert Review
    • Expert list
    Phenotypes
    • Polycystic kidney disease, adult type I, 173900
    • Autosomal recessive polycystic kidney disease (ARPKD)
    • Autosomal dominant polycystic kidney disease (ADPKD)

    Red PKD1 in Thoracic aortic aneurysm and dissection


    Version 1.18
    Latest signed off version: v1.2 (19 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • South West GLH
    Phenotypes
    • Connective Tissue Disorders
    • Polycystic kidney disease, adult type I,173900

    Red PKD1 in Thoracic aortic aneurysm or dissection

    Level 3: Connective tissue disorders and aortopathies
    Level 2: Cardiovascular disorders
    Version 1.123

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • South West GLH
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert Review
    Phenotypes
    • Polycystic kidney disease, adult type I,173900
    • Connective Tissue Disorders

    Green PKD1 in Unexplained paediatric onset end-stage renal disease


    Version 1.20
    Latest signed off version: v1.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    Phenotypes
    • Polycystic kidney disease, adult type I, 173900
    • Autosomal recessive polycystic kidney disease (ARPKD)
    • Autosomal dominant polycystic kidney disease (ADPKD)

    Green PKD1 in Fetal anomalies


    Version 1.717
    Latest signed off version: v1.92 (21 Aug 2020)

    review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • PAGE Additional Gene List
    • Expert Review Green
    Phenotypes
    • Polycystic kidney disease, 173900
    • Autosomal recessive polycystic kidney disease (ARPKD)
    • Autosomal dominant polycystic kidney disease (ADPKD)

    Green PKD1 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.146

    review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Polycystic kidney disease, adult type I, 173900
    • Autosomal recessive polycystic kidney disease (ARPKD)
    • Autosomal dominant polycystic kidney disease (ADPKD)

    Green PKD1 in Groopman et al 2019 - Genes with diagnostic variants


    Version 0.8

    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

    Green PKD1 in Renal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.42
    Latest signed off version: v1.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Polycystic kidney disease, adult type I, 173900
    • Autosomal recessive polycystic kidney disease (ARPKD)
    • Autosomal dominant polycystic kidney disease (ADPKD)

    Red PKD1 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.153
    Latest signed off version: v1.137 (5 Aug 2021)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green PKD1 in Severe Paediatric Disorders


    Version 1.84

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Polycystic kidney disease 1, 173900