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DDG2P

Gene: IFIH1

Green List (high evidence)
IFIH1 (interferon induced with helicase C domain 1)
EnsemblGeneIds (GRCh38): ENSG00000115267
EnsemblGeneIds (GRCh37): ENSG00000115267
OMIM: 606951, Gene2Phenotype
IFIH1 is in 17 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for IFIH1-related Aicardi-Goutieres syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 24686847, 24995871, 25080300, 25620204, 26833990, 27658362, 28319323, 28716935, 29018476, 29270977, 29782060, 31427910, 31898846, 32042913, 32202700, 34189822, 34453469, 36685504). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01033. The DDG2P confidence category, allelic requirement and molecular mechanism for IFIH1-related Singleton-Merten syndrome are strong, monoallelic_autosomal and gain of function (PMIDs: 25620204, 28319323). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01514.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease AICARDI-GOUTIERES SYNDROME 7, OMIM:615846 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:24995871).

The DDG2P confidence category for the disease SINGLETON-MERTEN SYNDROME, OMIM:182250 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:25620204).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 6 Oct 2023, 6:03 p.m.
Panel Version: 3.44

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
IFIH1-related Aicardi-Goutieres syndrome; OMIM:182250.0; IFIH1-related Singleton-Merten syndrome; AICARDI-GOUTIERES SYNDROME 7, OMIM:615846; MONDO:0014367; MONDO:0024535; SINGLETON-MERTEN SYNDROME, OMIM:182250; OMIM:615846.0

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 6 Oct 2023, 6:03 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for AICARDI-GOUTIERES SYNDROME 7.
Created: 28 Jan 2019, 2:29 p.m.
Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
Created: 19 Nov 2018, 1:50 p.m.
Multiple MOPs in DD-G2P download: activating, all missense/in frame. Multiple ratings in DD-G2P download: Rated confirmed for AICARDI-GOUTIERES SYNDROME 7 615846 and rated probable for SINGLETON-MERTEN SYNDROME 182250.
Created: 19 Nov 2018, 11:30 a.m.
Created: 19 Nov 2018, 11:30 a.m.

Panel version: 0.55

History Filter Activity

16 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: IFIH1 was changed from Other to None

6 Oct 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: IFIH1 were changed from AICARDI-GOUTIERES SYNDROME 7, OMIM:615846; SINGLETON-MERTEN SYNDROME, OMIM:182250 to AICARDI-GOUTIERES SYNDROME 7, OMIM:615846; SINGLETON-MERTEN SYNDROME, OMIM:182250

6 Oct 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: IFIH1 were changed from AICARDI-GOUTIERES SYNDROME 7, OMIM:615846; SINGLETON-MERTEN SYNDROME, OMIM:182250 to AICARDI-GOUTIERES SYNDROME 7, OMIM:615846; SINGLETON-MERTEN SYNDROME, OMIM:182250

6 Oct 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: IFIH1 were changed from AICARDI-GOUTIERES SYNDROME 7 615846; SINGLETON-MERTEN SYNDROME 182250 to AICARDI-GOUTIERES SYNDROME 7, OMIM:615846; SINGLETON-MERTEN SYNDROME, OMIM:182250

6 Oct 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag watchlist was removed from gene: IFIH1.

4 Oct 2023, Gel status: 3

Set mode of pathogenicity, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene IFIH1 was changed from Other - please provide details in the comments to Other Publications for gene: IFIH1 were updated from 25620204 to 24995871; 25620204

29 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Multiple MOPs in DD-G2P downlo

28 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: ifih1 has been classified as Green List (High Evidence).

19 Nov 2018, Gel status: 2

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: IFIH1.

19 Nov 2018, Gel status: 2

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes SINGLETON-MERTEN SYNDROME 182250 for gene: IFIH1 Publications for gene IFIH1 were changed from 24995871 to 25620204

19 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Rebecca Foulger (Genomics England curator)

gene: IFIH1 was added gene: IFIH1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: IFIH1 were set to 24995871 Phenotypes for gene: IFIH1 were set to AICARDI-GOUTIERES SYNDROME 7 615846 Mode of pathogenicity for gene: IFIH1 was set to Other - please provide details in the comments