CEP19

centrosomal protein 19
OMIM: 615586, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red CEP19 in Bardet Biedl syndrome


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.10

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Bardet Biedl syndrome

    Red CEP19 in Ciliopathies


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.54

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    • Expert list
    Phenotypes
    • Bardet-Biedl syndorme

    Amber CEP19 in Mendeliome


    Version 1.1891

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • Morbid obesity and spermatogenic failure MIM#615703
    • Bardet-Biedl syndorme

    Amber CEP19 in Severe early-onset obesity


    Level 2: Endocrine disorders
    Version 1.10

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    • Expert list
    Phenotypes
    • Morbid obesity and spermatogenic failure, OMIM:615703
    • Bardet Biedl syndrome