CEP164

centrosomal protein 164
OMIM: 614848, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Red CEP164 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.7

review Not set
Sources
  • Emory Genetics Laboratory

No list CEP164 in Limb disorders


Version 2.18
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Expert Review Removed
    • Victorian Clinical Genetics Services
    Phenotypes
    • Polydactyly

    No list CEP164 in Ductal plate malformation


    Version 1.11

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Nephronophthisis 15 (614845)

    Green CEP164 in Tubulointerstitial kidney disease


    Version 1.11
    Signed off v.1.3 on 4 Mar 2020

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Nephronopthisis 15 MIM 614845

    Green CEP164 in Cystic kidney disease

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 2.19
    Signed off v.2.2 on 19 Feb 2020

    Component of the following Super Panels:

  • Cystic renal disease
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert
    Phenotypes
    • Ciliopathy genes associated with cystic kidney disease

    Green CEP164 in Unexplained kidney failure in young people

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 1.92

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Expert
    Phenotypes
    • Nephronophthisis 15 614845

    Red CEP164 in Primary ciliary disorders

    Level 3: Respiratory ciliopathies
    Level 2: Ciliopathies
    Version 1.26

    review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • ciliopathies

    Red CEP164 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.32
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Emory Genetics Laboratory

    Green CEP164 in Unexplained paediatric onset end-stage renal disease


    Version 1.11
    Signed off v.1.2 on 4 Mar 2020

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Ciliopathy genes associated with cystic kidney disease
    • Nephronophthisis 15 614845

    Green CEP164 in Fetal anomalies


    Version 1.115
    Signed off v.1.92 on 21 Aug 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE Additional Gene List
    • Expert Review Green
    Phenotypes
    • Nephronophthisis 15 614845

    Green CEP164 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.21
    Signed off v.2.7 on 25 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Genetic Retinal Degeneration Conditions

    Green CEP164 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.130

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Orphanet
    • UKGTN
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Nephronophthisis 15, 614845
    • ciliopathies
    • Senior-Loken syndrome
    • Nephronophthisis 15

    Green CEP164 in Ophthalmological ciliopathies


    Version 1.8
    Signed off v.1.3 on 19 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Orphanet
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert list
    • Emory Genetics Laboratory
    Phenotypes
    • ciliopathies
    • Nephronophthisis 15
    • Senior-Loken syndrome
    • Nephronophthisis 15, 614845

    Green CEP164 in Renal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.31
    Signed off v.1.2 on 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Orphanet
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert list
    • Emory Genetics Laboratory
    Phenotypes
    • ciliopathies
    • Nephronophthisis 15
    • Senior-Loken syndrome
    • Nephronophthisis 15, 614845

    Red CEP164 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.64
    Signed off v.1.58 on 6 Oct 2020

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

    Green CEP164 in Severe Paediatric Disorders


    Version 1.20

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Nephronophthisis 15, 614845