1. Genes and Genomic Entities
  2. TMEM38B

TMEM38B

transmembrane protein 38B
OMIM: 611236, Gene2Phenotype

4 panels

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

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.56
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

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


    Version 3.155
    Latest signed off version: v3.0 (22 Mar 2023)

    		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 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
    • NHS GMS
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Expert
    Phenotypes
    • Osteogenesis imperfecta, type XIV, OMIM:615066
    • Osteogenesis imperfecta type 14, MONDO:0014029
    Green TMEM38B in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Osteogenesis imperfecta, type XIV, OMIM:615066
    • Osteogenesis imperfecta type 14, MONDO:0014029