1. Genes and Genomic Entities
  2. IFT81

IFT81

intraflagellar transport 81
OMIM: 605489, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green IFT81 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 Polydactyly Syndrome
Green IFT81 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.1
Latest signed off version: v5.0 (1 May 2024)

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 19 with or without polydactyly -617895
    • Short-Rib Polydactyly Syndrome
    Green IFT81 in Fetal anomalies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Short-rib thoracic dysplasia 19 with or without polydactyly, OMIM:617895
    • Short-rib thoracic dysplasia 19 with or without polydactyly, MONDO:0033485
    Amber IFT81 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 5.4
    Latest signed off version: v5.0 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • RetNet
    • Expert Review Amber
    Phenotypes
    • Short-rib thoracic dysplasia 19 with or without polydactyly, OMIM:617895,MONDO:0033485
    Amber IFT81 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.172

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Short-rib thoracic dysplasia 19 with or without polydactyly, 617895
    Tags
    • watchlist
    Green IFT81 in Skeletal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Short-rib thoracic dysplasia 19 with or without polydactyly, 617895
    Green IFT81 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 19 with or without polydactyly, 617895