1. Genes and Genomic Entities
  2. CEP120

CEP120

centrosomal protein 120
OMIM: 613446, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Green CEP120 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.20

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Short-rib thoracic dysplasia 13 with or without polydactyly 616300
  • ORPHA:474 Jeune syndrome
  • ORPHA:475 Joubert syndrome
  • ORPHA:220493 Joubert syndrome with ocular defect
No list CEP120 in Limb disorders


Version 4.18
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review Not set
    Sources
    • Expert Review Removed
    • Victorian Clinical Genetics Services
    Phenotypes
    • Polydactyly
    Tags
    • curated_removed
    No list CEP120 in Ductal plate malformation


    Version 1.29

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Joubert syndrome 31 (617761)
    • Short-rib thoracic dysplasia 13 with or without polydactyly (616300)
    Tags
    • curated_removed
    Green CEP120 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.56
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • UKGTN
    • Expert list
    Phenotypes
    • Joubert syndrome 213300
    • Short-rib thoracic dysplasia 13 with or without polydactyly 616300
    Green CEP120 in Fetal anomalies


    Version 3.155
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Joubert syndrome 31
    • Short-rib thoracic dysplasia 13 with or without polydactyly
    Red CEP120 in Rare syndromic craniosynostosis or isolated multisuture synostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 4.179
    Latest signed off version: v4.0 (22 Mar 2023)

    		review Not set
    Sources
    • NHS GMS
    Phenotypes
    • short rib thoracic dysplasia 13 +/- polydactyly
    • Joubert syndrome 31
    Green CEP120 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Joubert syndrome 31 (617761)
    • Short-rib thoracic dysplasia 13 with or without polydactyly (616300)
    Green CEP120 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.170

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    • Orphanet
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Short-rib thoracic dysplasia 13 with or without polydactyly, 616300
    • Thoracic and Cranioectodermal Dysplasia (Skeletal Ciliopathy) 15 Gene Panel
    • Jeune syndrome
    • Short-rib thoracic dysplasia 13 with or without polydactyly
    Green CEP120 in Skeletal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 3.21
    Latest signed off version: v3.1 (22 Mar 2023)

    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
    • Other
    • Expert Review Green
    Phenotypes
    • Short-rib thoracic dysplasia 13 with or without polydactyly
    • Jeune syndrome
    • Thoracic and Cranioectodermal Dysplasia (Skeletal Ciliopathy) 15 Gene Panel
    • Short-rib thoracic dysplasia 13 with or without polydactyly, 616300
    Red CEP120 in Childhood onset dystonia, chorea or related movement disorder


    Version 3.75
    Latest signed off version: v3.0 (22 Mar 2023)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green CEP120 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Short-rib thoracic dysplasia 13 with or without polydactyly, 616300
    • Joubert syndrome 31, 617761