CENPF

centromere protein F
OMIM: 600236, Gene2Phenotype

18 panels

Panel Reviews Mode of inheritance Details
18 panels

Green CENPF in Hydrocephalus


Version 2.116
Latest signed off version: v2.3 (2 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Stromme syndrome, OMIM:243605

Green CENPF in Limb disorders


Version 2.57
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Polydactyly
    • Stromme syndrome 243605

    Green CENPF in Severe microcephaly

    Level 3: DNA repair disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.250
    Latest signed off version: v2.2 (2 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Other
    • Expert list
    Phenotypes
    • MPD
    • microcephalic primordial dwarfism
    • Stromme syndrome, 243605
    • Microcephaly

    Red CENPF in Primary ciliary disorders

    Level 3: Respiratory ciliopathies
    Level 2: Ciliopathies
    Version 1.32

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Leeds Genetics Laboratory
    Phenotypes
    • Ciliary dyskinesia, primary, 31, 616369

    Red CENPF in Respiratory ciliopathies including non-CF bronchiectasis


    Version 1.45
    Latest signed off version: v1.3 (2 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • Ciliary dyskinesia, primary, 31, 616369

    Amber CENPF in CAKUT

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 1.164

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Stromme syndrome, 243605
    • bilateral renal hypoplasia
    • Duodenal atresia
    • Hydronephrosis

    Green CENPF 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Stromme syndrome, 243605
    • Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome

    Amber CENPF in Fetal anomalies


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

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Stromme syndrome, 243605
    Tags
    • for-review

    Amber CENPF in DDG2P


    Version 2.46
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • Stromme syndrome

    Green CENPF in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1306
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Other
    Phenotypes
    • Stromme syndrome 243605
    • Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome

    Amber CENPF in Structural eye disease


    Version 1.81
    Latest signed off version: v1.3 (4 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Stromme syndrome, OMIM:243605, MONDO:0009477
    Tags
    • for-review

    Green CENPF in Rare multisystem ciliopathy disorders

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

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Orphanet
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Stromme syndrome, 243605
    • Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome

    Green CENPF in Ophthalmological ciliopathies


    Version 1.19
    Latest signed off version: v1.3 (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
    Phenotypes
    • Stromme syndrome, 243605
    • Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome

    Green CENPF in Neurological ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.18
    Latest signed off version: v1.5 (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
    • Stromme syndrome, 243605
    • Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome

    Green CENPF 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Orphanet
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Stromme syndrome, 243605
    • Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
    Tags
    • for-review

    No list CENPF in Skeletal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.10
    Latest signed off version: v1.2 (19 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • Orphanet
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Stromme syndrome, 243605
    • Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
    Tags
    • curated_removed

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


    Version 1.156
    Latest signed off version: v1.137 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Red
    • London North GLH
    Phenotypes
    • Stromme syndrome, 243605
    • Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome

    Green CENPF in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Stromme syndrome, 243605