PanelApp
  1. Genes and Genomic Entities
  2. CFAP418

CFAP418

cilia and flagella associated protein 418
OMIM: 614477, ClinGen, DECIPHER

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Amber CFAP418 in Bardet Biedl syndrome


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Bardet-Biedl syndrome 21, MIM#617406

    Green CFAP418 in Ciliopathies


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Bardet-Biedl syndrome 21, MIM#617406
    • Retinitis pigmentosa 64, MIM#614500

    Green CFAP418 in Mendeliome


    Version 2.50

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bardet-Biedl syndrome 21, MIM#617406
    • Retinitis pigmentosa 64, MIM#614500

    Amber CFAP418 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.8

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Bardet-Biedl syndrome 21, MIM#617406

    Green CFAP418 in Retinitis pigmentosa


    Level 2: Ophthalmological disorders
    Version 1.0

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    Phenotypes
    • Achromatopsia, Cone, and Cone-rod Dystrophy
    • Retinitis pigmentosa 64, 614500

    Green CFAP418 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 1.0

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Cone-rod dystrophy 16, 614500 (3)

    Green CFAP418 in Cone-rod Dystrophy


    Level 2: Ophthalmological disorders
    Version 1.0

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cone-rod dystrophy 16, 614500
    • Retinitis pigmentosa 64, 614500

    Amber CFAP418 in Fetal anomalies


    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    • Expert list
    Phenotypes
    • Bardet-Biedl syndrome 21, MIM#617406

    Amber CFAP418 in Severe early-onset obesity


    Level 2: Endocrine disorders
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Bardet-Biedl syndrome 21, MIM#617406

    Green CFAP418 in Prepair 1000+


    Level 2: Screening
    Version 3.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Cone-rod dystrophy 16, Retinitis pigmentosa 64 MIM#614500