MESD

mesoderm development LRP chaperone
OMIM: 607783, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green MESD in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.223

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Osteogenesis imperfecta, type XX, MIM# 618644

Green MESD in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Osteogenesis imperfecta, type XX, MIM# 618644

Green MESD in Osteogenesis Imperfecta and Osteoporosis


Level 2: Skeletal disorders
Version 0.114

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Osteogenesis imperfecta, type XX, MIM# 618644

Green MESD in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Osteogenesis imperfecta, type XX, MIM# 618644

Green MESD in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Other
Phenotypes
  • Osteogenesis imperfecta, type XX, OMIM:618644
  • Osteogenesis imperfecta, type 20, MONDO:0032846

Green MESD in BabyScreen+ newborn screening


Level 2: Screening
Version 1.114

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Osteogenesis imperfecta, type XX, MIM# 618644
Tags
  • treatable
  • skeletal

Green MESD in Transplant Co-Morbidity Superpanel


Level 2: Screening
Version 0.18

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Osteogenesis imperfecta, type XX, MIM# 618644