Skeletal dysplasia
Gene: TMEM38B
OI and decreasing bone density gp of SD. green - 7 variants described on HGMD; Review on behalf of Tracy Lester/Michael OldridgeCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis imperfecta, type XIV 615066; Osteogenesis imperfecta, type XIV, 615066; osteogenesis imperfecta
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: TMEM38B; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Tier 1Created: 17 Jun 2016, 8:09 a.m.
Mode of inheritance
Unknown
Phenotypes
Osteogenesis imperfecta, type XIV 615066
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: TMEM38B were changed from Osteogenesis imperfecta, type XIV 615066; Osteogenesis imperfecta, type XIV 615066; osteogenesis imperfecta; Osteogenesis imperfecta, type XIV, 615066 to Osteogenesis imperfecta, type XIV, OMIM:615066; Osteogenesis imperfecta type 14, MONDO:0014029
Added phenotypes Osteogenesis imperfecta, type XIV 615066; Osteogenesis imperfecta, type XIV, 615066; osteogenesis imperfecta for gene: TMEM38B
Source NHS GMS was added to TMEM38B. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
TMEM38B was added to Unexplained skeletal dysplasiapanel. Source: Expert TMEM38B was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen TMEM38B was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Green Model of inheritance for gene TMEM38B was set to BIALLELIC, autosomal or pseudoautosomal
TMEM38B was added to Unexplained skeletal dysplasiapanel. Sources:
TMEM38B was created by sleigh