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Genetic epilepsy syndromes

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 15 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Aicardi-Goutieres syndrome is associated with seizures. AD Aicardi Goutieres Syndrome 7 (AGS7) and AD Singleton-Merton syndrome 1 (SGMRT1). AGS7 - Oda et al, 2014 2/3 unrelated Japanese boys also presented with seizures - all had de novo het missense variants and some functional work done into all 3 variants. Rice et al, 2004 - 8 children with a neurodevelopmental disorder - 8 diff missense varints identified, 6 de novo, 1 not known and 1 inherited from clinically unaff father and grandmother. 1/8 reported to have seizures. Crow et al, 2014 - An individual with HSP who had a de novo missense variant in this gene. SGMRT1 - characterised by abnormalities of blood vessels, teeth and bone - Seizures/epilepsy are not a feature. Seizures seen in 3/12 patients.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Aicardi-Goutieres syndrome, 615846; Singleton-Merten syndrome, 182250

Publications

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Comment on list classification: Updated rating from Amber to Green. Green review and confirmed DD-G2P gene for Aicardi-Goutieres syndrome 7, which can present with seizures. Seizures reported in PMID:24995871, PMID:24686847 and 29270977 (note some cases are febrile seizures). Since seizures are a recognised phenotype for Aicardi-Goutieres syndrome (reported by e.g. PMID:25604658), and other AGS-associated genes are on the panel, it is reasonable to include IFIH1 on this panel.
Created: 8 Nov 2018, 9:21 a.m.
PMID:24686847 (Rice et al. 2014) observed six rare IFIH1 variants in eight probands with AGS. 2 of the patients presented with seizures (see Supplementary material): F102 (European Italian male with R720Q variant) and F626 (European Italian male with D393V variant).
Created: 8 Nov 2018, 9:16 a.m.
PMID:29270977 report a 7 year old Japanese girl with febrile seizures amongst her phenotypes and a novel IFIH1 variant.
Created: 8 Nov 2018, 9:08 a.m.
PMID:25604658 (Crow et al. 2015) reported on 374 patients from 299 families with symptoms including seizures in 140 patients. Monoallelic variants of IFIH1 were found in 9 families.
Created: 8 Nov 2018, 9:08 a.m.
PMID:29239743 (Mutairi et al., 2018) reviewed the records of 24 unrelated patients with Aicardi-Goutières syndrome from 6 tertiary hospitals in different Arab countries. The most common presenting signs were developmental delay and seizures. A Heterozygous c.961G>T variant in IFIH1 was found in 1 patient who didn't have seizures as part of her phenotype.
Created: 8 Nov 2018, 9:08 a.m.
Oda et al 2014 (PMID:24995871) report IFIH1 variants in 3 unrelated Japanese patients with AGS7. 2 individuals had complex febrile seizures.
Created: 8 Nov 2018, 9:08 a.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are a feature of this multi-system disorder.
Created: 16 Aug 2018, 12:45 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Aicardi-Goutieres syndrome 7, MIM#615846

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

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to IFIH1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to IFIH1.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are a feature of this

12 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

8 Nov 2018, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: ifih1 has been classified as Amber List (Moderate Evidence).

8 Nov 2018, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: ifih1 has been classified as Amber List (Moderate Evidence).

8 Nov 2018, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: IFIH1 were set to

8 Nov 2018, Gel status: 2

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: IFIH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

8 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: IFIH1 were changed from to Aicardi-Goutieres syndrome 7, 615846; seizures

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to IFIH1. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

IFIH1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

IFIH1 was created by Sarah Leigh