Osteogenesis imperfecta
Gene: IFITM5
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: IFITM5; Suggested initial gene rating: greenCreated: 3 Apr 2019, 4:08 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
osteogenesis imperfecta
Publications
Variants in this GENE are reported as part of current diagnostic practice
https://oi.gene.le.ac.uk/home.php?select_db=IFITM5Created: 8 Dec 2015, noon
Source NHS GMS was added to IFITM5. Rating Changed from Green List (high evidence) to Green List (high evidence)
Mode of inheritance for IFITM5 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
IFITM5 was added to Osteogenesis Imperfecta panel. Sources: Eligibility statement prior genetic testing
IFITM5 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory
IFITM5 was added to Osteogenesis Imperfecta panel. Sources: Radboud University Medical Center, Nijmegen