IFT27:Ensemblv90

intraflagellar transport 27
OMIM: 615870, ClinGen, DECIPHER

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green IFT27 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 19, MIM#615996

    Green IFT27 in Ciliopathies


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.96

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Bardet-Biedl syndrome 19, MIM#615996

    Green IFT27 in Mendeliome


    Version 1.3802

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bardet-Biedl syndrome 19, MIM#615996

    Green IFT27 in Polydactyly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.297

    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
    • Expert Review Green

    Green IFT27 in Renal Ciliopathies and Nephronophthisis


    Level 2: Renal and urinary tract disorders
    Version 1.46

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Cystic Disease_SuperPanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • KidGen_CilioNephronop v38.1.0
    Phenotypes
    • Bardet-Biedl syndrome 19, MIM#615996

    Green IFT27 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.508

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Bardet-Biedl syndrome 19, MIM#615996

    Green IFT27 in Fetal anomalies


    Version 1.482

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Bardet-Biedl syndrome 19-MIM#615996

    Green IFT27 in Severe early-onset obesity


    Level 2: Endocrine disorders
    Version 1.23

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Bardet-Biedl syndrome 19, MIM#615996

    Green IFT27 in Bardet Biedl syndrome


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Bardet-Biedl syndrome 19, MIM#615996

    Green IFT27 in Ciliopathies


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Bardet-Biedl syndrome 19, MIM#615996

    Green IFT27 in Polydactyly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.0

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Expert list
    • Expert Review Green

    Green IFT27 in Renal Ciliopathies and Nephronophthisis


    Level 2: Renal and urinary tract disorders
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • KidGen_CilioNephronop v38.1.0
    • Expert list
    • Expert Review Green
    Phenotypes
    • Bardet-Biedl syndrome 19, MIM#615996

    Green IFT27 in Severe early-onset obesity


    Level 2: Endocrine disorders
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Bardet-Biedl syndrome 19, MIM#615996