IFT57

intraflagellar transport 57
OMIM: 606621, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber IFT57 in Limb disorders


Level 2: Musculoskeletal
Version 8.7
Latest signed off version: v8.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • ?Orofaciodigital syndrome XVIII, OMIM:617927
    • ciliopathy, MONDO:0005308
    Tags
    • Q2_26_promote_green
    Amber IFT57 in Bardet Biedl syndrome


    Level 2: Ophthalmology
    Version 2.17
    Latest signed off version: v2.16 (6 May 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Bardet-Biedl syndrome, MONDO:0015229
    • ?Orofaciodigital syndrome XVIII, OMIM:617927
    Green IFT57 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 7.10
    Latest signed off version: v7.0 (6 May 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Bardet-Biedl Syndrome