IFT172

intraflagellar transport 172
OMIM: 607386, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
17 panels

Red IFT172 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.38

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 1.12

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 2.65
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

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

    No list IFT172 in Ductal plate malformation


    Version 1.18

    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)
    Tags
    • curated_removed

    Green IFT172 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.137
    Latest signed off version: v2.2 (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 1.728
    Latest signed off version: v1.92 (21 Aug 2020)

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

    Green IFT172 in DDG2P


    Version 2.49
    Latest signed off version: v2.2 (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 2.57
    Latest signed off version: v2.2 (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 1.85
    Latest signed off version: v1.4 (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 3.1367
    Latest signed off version: v3.2 (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 2.219
    Latest signed off version: v2.195 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • RetNet
    • Expert Review Amber
    Phenotypes
    • Retinitis pigmentosa 71, OMIM:616394, MONDO:0014618
    Tags
    • for-review

    Green IFT172 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.146

    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 1.19
    Latest signed off version: v1.3 (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

    Amber IFT172 in Renal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.42
    Latest signed off version: v1.2 (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 Amber
    • 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 1.10
    Latest signed off version: v1.2 (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 1.157
    Latest signed off version: v1.137 (5 Aug 2021)

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

    Green IFT172 in Severe Paediatric Disorders


    Version 1.84

    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