CENPF

centromere protein F
OMIM: 600236, ClinGen, DECIPHER

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green CENPF in Congenital anomalies of the kidney and urinary tract (CAKUT)


Level 2: Renal and urinary tract disorders
Version 0.201

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Stromme syndrome, MIM#243605

    Amber CENPF in Cataract


    Level 2: Ophthalmological disorders
    Version 0.631

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Stromme syndrome, MIM# 243605

    Green CENPF in Ciliopathies


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.99

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Stromme syndrome (MIM#243605)

    Green CENPF in Hydrocephalus_Ventriculomegaly


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.134

    0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Amber CENPF in Joubert syndrome and other neurological ciliopathies


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • Stromme syndrome (MIM#243605)

    Green CENPF in Mendeliome


    Version 1.4543

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Stromme syndrome (MIM#243605)

    Green CENPF in Microcephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.418

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Stromme syndrome (MIM#243605)

    Green CENPF in Polydactyly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.301

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Red CENPF in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.384

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Stromme syndrome MIM#243605

    Green CENPF in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.592

    0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green CENPF in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.700

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Stromme syndrome (MIM#243605)

    Green CENPF in Fetal anomalies


    Version 1.542

    3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    • Expert Review
    Phenotypes
    • Stromme syndrome, MIM#243605