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Newborns main panel

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Newborns Variant Discussion (NVD) recommended.

Additional Information: Sheffield Diagnostic Genetics Service ([email protected]) have requested to be involved at the variant review stage. They will be able to assist with variant interpretation prior to reporting.
Created: 4 Nov 2025, 12:17 p.m. | Last Modified: 4 Nov 2025, 5:04 p.m.
Panel Version: 0.480
Special Consideration: Internal inclusion list only
Created: 26 Sep 2024, 3:33 p.m. | Last Modified: 25 Oct 2024, 10:45 a.m.
Panel Version: 0.469
Created: 26 Sep 2024, 3:33 p.m.
Last Modified: 4 Nov 2025, 5:04 p.m.
Panel version: 0.480

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is gain-of-function (GOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 23240094 PMID: 36289625
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
If this condition is included might we only look for the c.-14C>T variant which is associated with the OI type V phenotype?
Created: 1 Jun 2023, 12:20 p.m. | Last Modified: 1 Jun 2023, 12:20 p.m.
Panel Version: 0.133
Is this to be included for LOF prioritisation? The c.-14C>T and c.-9C>A variants result in additional amino acids and I can't find any reported truncating variants. Just noting there is also c.119C>G variant reported. -> DB: This cannot go in with the usual LOF process. PMID: 36289625. Pathogenesis is not clear. If we assign GOF to suggest dysfunctional protein this would work in our process. I changed it to GOF. We could chat.
Created: 10 May 2023, 9:05 a.m. | Last Modified: 10 May 2023, 9:05 a.m.
Panel Version: 0.76
Created: 10 May 2023, 9:05 a.m.
Last Modified: 10 May 2023, 9:05 a.m.
Panel version: 0.137

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Osteogenesis Imperfecta type V
Tags
special_consideration internal_inclusion_list_only
OMIM
614757
Clinvar variants
Variants in IFITM5
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: IFITM5.

26 Sep 2023, Gel status: 3

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag internal_inclusion_list_only tag was added to gene: IFITM5.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Osteogenesis Imperfecta type V for gene: IFITM5

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to IFITM5. Added phenotypes Osteogenesis Imperfecta type V for gene: IFITM5 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag GOF was removed from gene: IFITM5.

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to IFITM5. Added phenotypes Osteogenesis Imperfecta type V for gene: IFITM5 Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to IFITM5. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Set mode of pathogenicity

Mafalda Gomes (Genomics England Curator)

Mode of pathogenicity for gene: IFITM5 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

9 Mar 2023, Gel status: 2

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag GOF tag was added to gene: IFITM5.

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Osteogenesis Imperfecta type V for gene: IFITM5

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: IFITM5 was added gene: IFITM5 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: IFITM5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown