IFT172

intraflagellar transport 172
OMIM: 607386, Gene2Phenotype

18 panels

Panel Reviews Mode of inheritance Details
18 panels

Red IFT172 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.30

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

Green IFT172 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.7

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Short-rib thoracic dysplasia 10 with or without polydactyly, 615630

No list IFT172 in Limb disorders


Version 2.11
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Expert Review Removed
    • Victorian Clinical Genetics Services
    Phenotypes
    • Polydactyly

    No list IFT172 in Ductal plate malformation


    Version 1.10

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Short-rib thoracic dysplasia 10 with or without polydactyly (615630)

    Green IFT172 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.9
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

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

    Green IFT172 in Fetal anomalies


    Version 1.73
    Signed off v.1.2 on 17 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MAINZER-SALDINO SYNDROME
    • JEUNE SYNDROME

    Green IFT172 in DDG2P


    Version 2.8
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • JEUNE SYNDROME
    • MAINZER-SALDINO SYNDROME 266920

    Green IFT172 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.3
    Signed off v.2.2 on 4 Mar 2020

    Component of the following Super Panels:

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

    Red IFT172 in Growth failure in early childhood


    Version 1.8
    Signed off v.1.4 on 3 Mar 2020

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

    Green IFT172 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.160
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • MAINZER-SALDINO SYNDROME

    Amber IFT172 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.14
    Signed off v.2.7 on 25 Feb 2020

    review Not set
    Sources
    • NHS GMS
    • RetNet
    • Expert Review Amber

    Green IFT172 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.125

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    • Orphanet
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Retinitis pigmentosa 71, 616394
    • Short-rib thoracic dysplasia 10 with or without polydactyly, 615630
    • Jeune syndrome
    • Saldino-Mainzer syndrome
    • Short-rib thoracic dysplasia 10 with or without polydactyly

    Green IFT172 in Ophthalmological ciliopathies


    Version 1.4
    Signed off v.1.3 on 19 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Orphanet
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert list
    • Other
    Phenotypes
    • Retinitis pigmentosa 71, 616394
    • Short-rib thoracic dysplasia 10 with or without polydactyly
    • Saldino-Mainzer syndrome
    • Jeune syndrome
    • Short-rib thoracic dysplasia 10 with or without polydactyly, 615630

    Green IFT172 in Renal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.25
    Signed off v.1.2 on 4 Mar 2020

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630
    Tags
    • for-review

    Green IFT172 in Skeletal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.3
    Signed off v.1.2 on 19 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Orphanet
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert list
    • Other
    Phenotypes
    • Retinitis pigmentosa 71, 616394
    • Short-rib thoracic dysplasia 10 with or without polydactyly
    • Saldino-Mainzer syndrome
    • Jeune syndrome
    • Short-rib thoracic dysplasia 10 with or without polydactyly, 615630

    Red IFT172 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.4
    Signed off v.1.2 on 25 Feb 2020

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green IFT172 in Kidneyome_SuperPanel_VCGS


    Level 2: Renal and urinary tract disorders
    Version 0.2

    review Unknown
    Sources
    • KidGen_CilioNephronop v38.1.0
    • Expert Review Green

    Green IFT172 in Severe Paediatric Disorders


    Version 1.6

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Short-rib thoracic dysplasia 10 with or without polydactyly, 615630
    • Retinitis pigmentosa 71, 616394