1. Genes and Genomic Entities
  2. LTBP3

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 Bilateral congenital or childhood onset cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.12
Latest signed off version: v4.0 (22 Mar 2023)

review Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Confirmed DD gene for PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA
Amber LTBP3 in Thoracic aortic aneurysm or dissection (GMS)


Version 3.11
Latest signed off version: v3.0 (22 Mar 2023)

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
Green LTBP3 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.56
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    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,
    Green LTBP3 in Amelogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 3.3
    Latest signed off version: v3.0 (22 Mar 2023)

    		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 3.155
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA
    Green LTBP3 in DDG2P


    Version 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  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 1.184

    		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