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Skeletal dysplasia

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

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

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.

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

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

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

8 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for IFITM5 were set to Osteogenesis imperfecta, type V 610967

18 May 2016, Gel status: 4

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

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

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

IFITM5 was added to Unexplained skeletal dysplasiapanel. Sources:

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

IFITM5 was created by sleigh