TMEM38B

transmembrane protein 38B
OMIM: 611236, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green TMEM38B in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.38
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Osteogenesis imperfecta, type XIV, OMIM:615066
    • Osteogenesis imperfecta type 14, MONDO:0014029
    Green TMEM38B in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.181
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Osteogenesis imperfecta, type XIV, OMIM:615066
    • Osteogenesis imperfecta type 14, MONDO:0014029
    Green TMEM38B in Osteogenesis imperfecta


    Level 2: Musculoskeletal
    Version 5.5
    Latest signed off version: v5.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Expert
    Phenotypes
    • Osteogenesis imperfecta, type XIV, OMIM:615066
    • Osteogenesis imperfecta type 14, MONDO:0014029