1. Genes and Genomic Entities
  2. LTBP1

LTBP1

latent transforming growth factor beta binding protein 1
OMIM: 150390, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green LTBP1 in Limb disorders


Level 2: Musculoskeletal
Version 7.20
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Cutis laxa, autosomal recessive, type IIE, OMIM:619451
    • Brachydactyly, HP:0001156
    • Clinodactyly, HP:0030084
    • Syndactyly, HP:0001159
    Green LTBP1 in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 8.34
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • inherited cutis laxa MONDO:0100237
    • Cutis laxa, autosomal recessive, type IIE, OMIM:619451
    Amber LTBP1 in Ehlers Danlos syndrome with a likely monogenic cause


    Level 2: Musculoskeletal
    Version 4.6
    Latest signed off version: v4.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Cutis laxa, autosomal recessive, type IIE, OMIM:619451
    • Joint hyperlaxity
    Green LTBP1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Cutis laxa, autosomal recessive, type IIE, OMIM:619451
    Green LTBP1 in Rare syndromic craniosynostosis or isolated multisuture synostosis


    Level 2: Musculoskeletal
    Version 6.3
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cutis laxa, autosomal recessive, type IIE, OMIM:619451
    • craniosynostosis, MONDO:0015469
    Green LTBP1 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • LTBP1-related cutis laxa and craniosynostosis