IFT172

intraflagellar transport 172
OMIM: 607386, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Green IFT172 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.230

review Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship

Green IFT172 in Bardet Biedl syndrome


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.10

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bardet-Biedl syndrome 20, MIM# 619471

    Green IFT172 in Ciliopathies


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.62

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bardet-Biedl syndrome 20, MIM# 619471
    • Retinitis pigmentosa 71, MIM# 616394
    • Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630

    Green IFT172 in Mendeliome


    Version 1.2374

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Retinitis pigmentosa 71 616394
    • Short-rib thoracic dysplasia 10 with or without polydactyly - 615630
    • Bardet-Biedl syndrome 20, MIM# 619471

    Green IFT172 in Polydactyly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.281

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green IFT172 in Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy


    Level 2: Skeletal disorders
    Version 1.15

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630

    Green IFT172 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
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • KidGen_CilioNephronop v38.1.0
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bardet-Biedl syndrome 20, MIM# 619471
    • Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630

    Green IFT172 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Bardet-Biedl syndrome MONDO:0015229

    Green IFT172 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.305

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Short-rib thoracic dysplasia 10 with or without polydactyly, 615630
    • SRTD10

    Green IFT172 in Retinitis pigmentosa_Autosomal Recessive/X-linked


    Level 2: Ophthalmological disorders
    Version 0.156

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Retinitis pigmentosa 71, MIM#616394

    Green IFT172 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 (3)

    Green IFT172 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.260

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • SRTD10
    • SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY

    Red IFT172 in Growth failure


    Version 1.76

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • GH deficiency, retinopathy, metaphyseal dysplasia

    Green IFT172 in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
    Phenotypes
    • Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630
    • Bardet-Biedl syndrome

    Green IFT172 in Severe early-onset obesity


    Level 2: Endocrine disorders
    Version 1.13

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Bardet-Biedl syndrome 20, MIM# 619471

    Green IFT172 in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 (3)