1. Genes and Genomic Entities
  2. LTBP3

LTBP3

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

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Red LTBP3 in Bilateral congenital or childhood onset cataracts


Level 2: Ophthalmology
Version 8.13
Latest signed off version: v8.5 (12 Aug 2026)

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)


Level 2: Cardiology
Version 5.8
Latest signed off version: v5.7 (12 Aug 2026)

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 2: Musculoskeletal
Version 10.5
Latest signed off version: v10.0 (12 Aug 2026)

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 2: Musculoskeletal
    Version 4.38
    Latest signed off version: v4.37 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Eligibility statement prior genetic testing
    • Other
    Phenotypes
    • Dental anomalies and short stature, OMIM:601216
    Green LTBP3 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.5
    Latest signed off version: v8.0 (12 Aug 2026)

    		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 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    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 2: Developmental disorders
    Version 11.26
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Tooth agenesis, selective, 6, 613097