Osteogenesis imperfecta
Gene: TMEM38B
This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: TMEM38B; Suggested initial gene rating: greenCreated: 3 Apr 2019, 4:08 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
https://oi.gene.le.ac.uk/home.php?select_db=TMEM38BCreated: 8 Dec 2015, noon
Phenotypes for gene: TMEM38B were changed from Osteogenesis imperfecta, type XIV, 615066; osteogenesis imperfecta to Osteogenesis imperfecta, type XIV, OMIM:615066; Osteogenesis imperfecta type 14, MONDO:0014029
Source NHS GMS was added to TMEM38B. Rating Changed from Green List (high evidence) to Green List (high evidence)
Phenotypes for TMEM38B were set to Osteogenesis imperfecta, type XIV, 615066; osteogenesis imperfecta
Publications for TMEM38B were set to 23316006; 23054245
Mode of inheritance for TMEM38B was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
TMEM38B was added to Osteogenesis Imperfecta panel. Sources: Radboud University Medical Center, Nijmegen
TMEM38B was added to Osteogenesis Imperfecta panel. Sources: Expert