CEP104

centrosomal protein 104
OMIM: 616690, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

No list CEP104 in Ductal plate malformation


Version 1.11

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Joubert syndrome 25 (616781)

Green CEP104 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
    • NHS GMS
    Phenotypes
    • Joubert syndrome 25
    • Joubert syndrome 25, 616781

    Green CEP104 in Fetal anomalies


    Version 1.115
    Signed off v.1.92 on 21 Aug 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Joubert syndrome 25, 616781

    Green CEP104 in DDG2P


    Version 2.12
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Joubert syndrome 25, 616781

    Amber CEP104 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.568
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Joubert syndrome 25, 616781
    Tags
    • for-review

    Green CEP104 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
    • Other
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Joubert syndrome 25, 616781
    • Joubert syndrome 25

    Green CEP104 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
    • Radboud University Medical Center, Nijmegen
    • Other
    Phenotypes
    • Joubert syndrome 25, 616781
    • Joubert syndrome 25

    Green CEP104 in Neurological ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.10
    Signed off v.1.5 on 4 Mar 2020

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Joubert syndrome 25, 616781
    • Joubert syndrome 25

    Green CEP104 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
    • Radboud University Medical Center, Nijmegen
    • Other
    Phenotypes
    • Joubert syndrome 25, 616781
    • Joubert syndrome 25

    Red CEP104 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.64
    Signed off v.1.58 on 6 Oct 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Red
    • London North GLH
    Phenotypes
    • Joubert syndrome 25
    • Joubert syndrome 25, 616781

    Green CEP104 in Severe Paediatric Disorders


    Version 1.20

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Joubert syndrome 25, 616781