Skeletal dysplasia
Gene: IFITM5
OI and decreasing bone density gp of SD. Many cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Osteogenesis imperfecta, type V 610967
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: IFITM5; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Tier 1Created: 17 Jun 2016, 8:05 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Osteogenesis imperfecta, type V 610967
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Osteogenesis imperfecta, type V 610967 for gene: IFITM5
Source NHS GMS was added to IFITM5. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for IFITM5 were set to Osteogenesis imperfecta, type V 610967
IFITM5 was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen IFITM5 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory IFITM5 was added to Unexplained skeletal dysplasiapanel. Source: Eligibility statement prior genetic testing IFITM5 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Green Model of inheritance for gene IFITM5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
IFITM5 was added to Unexplained skeletal dysplasiapanel. Sources:
IFITM5 was created by sleigh