1. Genes and Genomic Entities
  2. IFT52

IFT52

intraflagellar transport 52
OMIM: 617094, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Green IFT52 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.24

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102
  • Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915
No list IFT52 in Limb disorders


Level 2: Musculoskeletal
Version 7.20
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • Victorian Clinical Genetics Services
    Phenotypes
    • Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102
    • Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915
    Tags
    • curated_removed
    No list IFT52 in Ductal plate malformation


    Version 1.31

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102
    • Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915
    Tags
    • curated_removed
    Green IFT52 in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 8.34
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Other
    Phenotypes
    • Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102
    • Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915
    Green IFT52 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102
    • Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915
    Amber IFT52 in Clefting


    Level 2: Musculoskeletal
    Version 6.20
    Latest signed off version: v6.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102
    • Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915
    Green IFT52 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.180

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102
    • Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915
    Green IFT52 in Skeletal ciliopathies


    Level 2: Musculoskeletal
    Version 6.5
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    • Expert Review Green
    Phenotypes
    • Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102
    • Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915
    Red IFT52 in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • London North GLH