1. Genes and Genomic Entities
  2. MESD

MESD

mesoderm development LRP chaperone
OMIM: 607783, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green MESD in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Osteogenesis imperfecta, type XX, OMIM:618644
    • Osteogenesis imperfecta, type 20, MONDO:0032846
    Green MESD in Fetal anomalies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Osteogenesis imperfecta, type XX, OMIM:618644
    • Osteogenesis imperfecta, type 20, MONDO:0032846
    Green MESD in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.5
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Osteogenesis imperfecta, type XX, OMIM:618644
    • Osteogenesis imperfecta, type 20, MONDO:0032846
    Green MESD 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
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • OSTEOGENESIS IMPERFECTA