PanelApp (stage)
  1. Genes and Genomic Entities
  2. IFT57

IFT57

intraflagellar transport 57
OMIM: 606621, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red IFT57 in Mendeliome


Version 1.1891

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

Red IFT57 in Renal Ciliopathies and Nephronophthisis


Level 2: Renal and urinary tract disorders
Version 1.22

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Cystic Disease_SuperPanel

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

    Red IFT57 in Hand and foot malformations


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.74

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

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