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  3. IFITM5
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Osteogenesis imperfecta

Gene: IFITM5

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

5 reviews

Duncan Baker (Sheffield Genetics)

Green List (high evidence)

Created: 3 Apr 2019, 4:14 p.m.

Panel version: 1.19

Eleanor Williams (Genomics England Curator)

I don't know

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: green
Created: 3 Apr 2019, 4:08 p.m.
Created: 3 Apr 2019, 4:08 p.m.

Panel version: 1.18

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

Green List (high evidence)

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

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Raymond Dalgleish (University of Leicester)

Green List (high evidence)

https://oi.gene.le.ac.uk/home.php?select_db=IFITM5
Created: 8 Dec 2015, noon
Created: 8 Dec 2015, noon

Panel version: 0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Osteogenesis imperfecta, type V, 610967
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
  • c-14C>T IFITM5 testing
OMIM
614757
Clinvar variants
Variants in IFITM5
Penetrance
Complete
Panels with this gene

History Filter Activity

13 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)

10 May 2016, Gel status: 4

Set Mode of Inheritance

Chris Boustred (Genomics England)

Mode of inheritance for IFITM5 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Chris Boustred (Genomics England)

This gene has been classified as Green List (High Evidence).

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Chris Boustred (Genomics England)

This gene has been classified as Green List (High Evidence).

12 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

IFITM5 was added to Osteogenesis Imperfecta panel. Sources: Eligibility statement prior genetic testing

23 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

IFITM5 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory

23 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

IFITM5 was added to Osteogenesis Imperfecta panel. Sources: Radboud University Medical Center, Nijmegen