1. Genes and Genomic Entities
  2. IFT52

IFT52

intraflagellar transport 52
OMIM: 617094, Gene2Phenotype

10 panels

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

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.20

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


Version 4.18
Latest signed off version: v4.0 (22 Mar 2023)

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 1.29

    		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 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.56
    Latest signed off version: v4.0 (22 Mar 2023)

    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


    Version 3.155
    Latest signed off version: v3.0 (22 Mar 2023)

    		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 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 4.108
    Latest signed off version: v4.0 (22 Mar 2023)

    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 1.170

    		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 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 3.21
    Latest signed off version: v3.1 (22 Mar 2023)

    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


    Version 3.75
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • London North GLH
    Green IFT52 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • 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