PanelApp (staging)
  1. Genes and Genomic Entities
  2. IFT81

IFT81

intraflagellar transport 81
OMIM: 605489, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Amber IFT81 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.225

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Phenotypes
  • Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895

Green IFT81 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.62

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895

Green IFT81 in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895

Green IFT81 in Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy


Level 2: Skeletal disorders
Version 1.15

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895

Red IFT81 in Renal Ciliopathies and Nephronophthisis


Level 2: Renal and urinary tract disorders
Version 1.26

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Cystic Disease_SuperPanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • KidGen_CilioNephronop v38.1.0
    Phenotypes
    • Short-rib thoracic dysplasia 19 with or without polydactyly
    • OMIM #617895

    Amber IFT81 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.302

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Other
    • NHS GMS
    Phenotypes
    • Short-rib thoracic dysplasia 19 with or without polydactyly -617895
    • Short-Rib Polydactyly Syndrome

    Amber IFT81 in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 0.219

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • RetNet
    Phenotypes
    • Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895

    Amber IFT81 in Fetal anomalies


    Version 1.313

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
    Phenotypes
    • Short-rib thoracic dysplasia 19 with or without polydactyly, MONDO:0033485
    • Short-rib thoracic dysplasia 19 with or without polydactyly, OMIM:617895