PanelApp
  1. Genes and Genomic Entities
  2. IFT57

IFT57

intraflagellar transport 57
OMIM: 606621, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Amber IFT57 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 Amber
    • Literature
    Phenotypes
    • Bardet-Bield syndrome
    • ciliopathy - MONDO:0005308

    Amber IFT57 in Ciliopathies


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.95

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Bardet-Bield syndrome
    • ciliopathy - MONDO:0005308

    Amber IFT57 in Mendeliome


    Version 1.3795

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Orofaciodigital syndrome XVIII, MIM# 617927
    • Bardet-Bield syndrome
    • ciliopathy - MONDO:0005308

    Amber IFT57 in Polydactyly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.297

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Bardet-Bield syndrome
    • ciliopathy - MONDO:0005308

    Red IFT57 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 Unknown
    Sources
    • Expert Review Red
    • KidGen_CilioNephronop v38.1.0
    Phenotypes
    • Orofaciodigital syndrome XVIII, MIM#617927

    Amber IFT57 in Cone-rod Dystrophy


    Level 2: Ophthalmological disorders
    Version 0.58

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Bardet-Bield syndrome
    • ciliopathy - MONDO:0005308

    Red IFT57 in Hand and foot malformations


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.80

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • ?Orofaciodigital syndrome XVIII MIM#617927

    Amber IFT57 in Fetal anomalies


    Version 1.481

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Bardet-Bield syndrome
    • ciliopathy - MONDO:0005308, IFT57-related