PanelApp
  1. Genes and Genomic Entities
  2. CEP164

CEP164

centrosomal protein 164
OMIM: 614848, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green CEP164 in Bardet Biedl syndrome


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.14

Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Bardet-Biedl syndrome

    Green CEP164 in Ciliopathies


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.94

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bardet-Biedl syndrome
    • Nephronophthisis 15, MIM# 614845
    • Oro-facio-digital syndrome

    Green CEP164 in Mendeliome


    Version 1.3512

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bardet-Biedl syndrome
    • Nephronophthisis 15, MIM# 614845
    • Oro-facio-digital syndrome

    Green CEP164 in Polydactyly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.296

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bardet-Biedl syndrome
    • Nephronophthisis 15, MIM# 614845
    • Oro-facio-digital syndrome

    Green CEP164 in Renal Ciliopathies and Nephronophthisis


    Level 2: Renal and urinary tract disorders
    Version 1.45

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Cystic Disease_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • KidGen_CilioNephronop v38.1.0
    Phenotypes
    • Bardet-Biedl syndrome
    • Nephronophthisis 15, MIM# 614845
    • Oro-facio-digital syndrome

    Green CEP164 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Bardet-Biedl syndrome
    • Nephronophthisis 15, MIM# 614845
    • Oro-facio-digital syndrome

    Red CEP164 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.346

    		1 review Not set
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • Victorian Clinical Genetics Services

    Green CEP164 in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 0.234

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • RetNet
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green CEP164 in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • KidGen_CilioNephronop v38.1.0
    Phenotypes
    • Bardet-Biedl syndrome
    • Nephronophthisis 15, MIM# 614845
    • Oro-facio-digital syndrome

    Green CEP164 in Severe early-onset obesity


    Level 2: Endocrine disorders
    Version 1.19

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Bardet-Biedl syndrome