Osteogenesis Imperfecta and Osteoporosis
Gene: IFITM5

IFITM5 (interferon induced transmembrane protein 5)
EnsemblGeneIds (GRCh38): ENSG00000206013
EnsemblGeneIds (GRCh37): ENSG00000206013
OMIM: 614757, Gene2Phenotype
IFITM5 is in 7 panels

1 review

Chern Lim (Victorian Clinical Genetics Services)

Green List (high evidence)

- A recurrent c.-14C>T variant has been reported in many patients with type V OI. It introduces an alternative in-frame start codon upstream that is stronger than the reference start codon in transfected HEK cells (PMIDs: 22863190, 22863195). However, the effect of mutant protein (5 amino acids longer) remains unknown but neomorphic mechanism is a widely accepted hypothesis (PMIDs: 25251575, 32383316).

- Missense p.(S40L) variant has a different disease mechanism to that of the recurrent 5'UTR variant: SERPINF1 gene expression and PEDF secretion was increased by the 5'UTR variant but decreased by the p.(S40L) substitution (PMID: 24519609).
Created: 12 May 2020, 8:21 a.m. | Last Modified: 12 May 2020, 8:21 a.m.

Panel Version: 0.14

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Osteogenesis imperfecta type V, MIM#610967

Publications

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

Created: 12 May 2020, 8:21 a.m.
Last Modified: 12 May 2020, 8:21 a.m.
Panel version: 0.14

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Osteogenesis imperfecta type V, MIM#610967

OMIM

614757

Clinvar variants

Variants in IFITM5

Penetrance

None

Publications

Mode of Pathogenicity

Other

Panels with this gene