LTBP3

latent transforming growth factor beta binding protein 3
OMIM: 602090, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Red LTBP3 in Cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.110
Latest signed off version: v2.76 (5 Aug 2021)

review Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Confirmed DD gene for PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA

Amber LTBP3 in Thoracic aortic aneurysm and dissection


Version 1.23
Latest signed off version: v1.2 (19 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Short stature
  • dental anomalies
  • aortopathy
  • facial dysmorphism
  • learning disability
  • Dental anomalies and short stature, OMIM:601216
Tags
  • Q1_22_rating

Green LTBP3 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.211
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Geleophysic dysplasia 3, OMIM:617809
    • Dental anomalies and short stature, OMIM:610216
    • geleophysic dysplasia 3, MONDO:0054722,
    Tags
    • Q1_22_NHS_review
    • Q1_22_MOI

    Green LTBP3 in Amelogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.20
    Latest signed off version: v2.2 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Eligibility statement prior genetic testing
    • Other
    Phenotypes
    • Dental anomalies and short stature, OMIM:601216
    • Amelogenesis Imperfecta
    • syndromic AI with brachyolmia

    Green LTBP3 in Fetal anomalies


    Version 1.905
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA
    Tags
    • Q1_22_MOI

    Green LTBP3 in DDG2P


    Version 2.78
    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
    • PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA 601216

    Red LTBP3 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1677
    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 Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Tooth agenesis, selective, 6, 613097

    Green LTBP3 in Severe Paediatric Disorders


    Version 1.127

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Geleophysic dysplasia 3, 617809
    • Dental anomalies and short stature, 601216