BBIP1

BBSome interacting protein 1
OMIM: 613605, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green BBIP1 in Bardet Biedl syndrome


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.14

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Bardet-Biedl syndrome 18, MIM#615995

    Green BBIP1 in Ciliopathies


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.71

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Bardet-Biedl syndrome 18, MIM#615995

    Green BBIP1 in Mendeliome


    Version 1.2656

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • KidGen_CilioNephronop v38.1.0
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bardet-Biedl syndrome 18, MIM#615995

    Green BBIP1 in Renal Ciliopathies and Nephronophthisis


    Level 2: Renal and urinary tract disorders
    Version 1.31

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Cystic Disease_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • KidGen_CilioNephronop v38.1.0
    Phenotypes
    • Bardet-Biedl syndrome 18, MIM#615995

    Green BBIP1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.174

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Bardet-Biedl syndrome 18, MIM#615995

    Green BBIP1 in Fetal anomalies


    Version 1.370

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Bardet-Biedl syndrome 18, MIM#615995

    Green BBIP1 in Severe early-onset obesity


    Level 2: Endocrine disorders
    Version 1.17

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Bardet-Biedl syndrome 18, MIM#615995