Skeletal dysplasia
Gene: IFITM5

IFITM5 (interferon induced transmembrane protein 5)
EnsemblGeneIds (GRCh38): ENSG00000206013
EnsemblGeneIds (GRCh37): ENSG00000206013
OMIM: 614757, Gene2Phenotype
IFITM5 is in 5 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

OI and decreasing bone density gp of SD. Many cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Osteogenesis imperfecta, type V 610967

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

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: green
Created: 6 Mar 2019, 11:36 a.m.

Created: 6 Mar 2019, 11:36 a.m.

Panel version: 1.146

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 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

Created: 17 Jun 2016, 8:05 a.m.

Panel version: 0.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Radboud University Medical Center, Nijmegen
Expert Review Green
Emory Genetics Laboratory
Eligibility statement prior genetic testing

Phenotypes

Osteogenesis imperfecta, type V 610967

OMIM

614757

Clinvar variants

Variants in IFITM5

Penetrance

Complete

Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Osteogenesis imperfecta, type V 610967 for gene: IFITM5

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to IFITM5. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4