LTBP2

latent transforming growth factor beta binding protein 2
OMIM: 602091, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels
Green LTBP2 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Primary Congenital Glaucoma
  • Glaucoma 3, primary congenital, D 613086
Red LTBP2 in Bilateral congenital or childhood onset cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.14
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
Green LTBP2 in Corneal abnormalities

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.13

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 251750
Amber LTBP2 in Corneal dystrophy


Version 3.10
Latest signed off version: v3.2 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, OMIM:251750
  • Glaucoma 3, primary congenital, D, OMIM:613086
  • Weill-Marchesani syndrome 3, recessive, OMIM:614819
Tags
  • Q4_23_promote_green
Red LTBP2 in Thoracic aortic aneurysm or dissection (GMS)


Version 3.16
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • South West GLH
  • South West GLH
Phenotypes
  • Marfan syndrome
Red LTBP2 in Thoracic aortic aneurysm or dissection

Level 3: Connective tissue disorders and aortopathies
Level 2: Cardiovascular disorders
Version 1.127

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Literature
Phenotypes
  • Marfan syndrome
Red LTBP2 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.4
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • NHS GMS
    Phenotypes
    • Weill-Marchesani
    Amber LTBP2 in Ehlers Danlos syndrome with a likely monogenic cause

    Level 3: Connective tissues disorders
    Level 2: Rheumatological disorders
    Version 3.15
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, OMIM:251750
    • Glaucoma 3, primary congenital, D, OMIM:613086
    • Weill-Marchesani syndrome 3, recessive, OMIM:614819
    Tags
    • Q4_23_promote_green
    Red LTBP2 in Fetal anomalies


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • MICROSPHEROPHAKIA
    • PRIMARY CONGENITAL GLAUCOMA TYPE 3D
    Green LTBP2 in DDG2P


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MICROSPHEROPHAKIA 251750
    • PRIMARY CONGENITAL GLAUCOMA TYPE 3D 613086
    Red LTBP2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.21
    Latest signed off version: v6.0 (1 May 2024)

    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
    • Glaucoma 3, primary congenital, D, 613086
    • Microspherophakia
    • and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750
    • Weill-Marchesani syndrome 3, recessive, 614819
    Green LTBP2 in Structural eye disease


    Version 3.79
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Glaucoma 3, primary congenital, D 613086
    • Primary Congenital Glaucoma
    Green LTBP2 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
    • ?Weill-Marchesani syndrome 3, recessive, 614819
    • Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750
    • Glaucoma 3, primary congenital, D, 613086