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Early onset or syndromic epilepsy v2.474 IFIH1 Arina Puzriakova Phenotypes for gene: IFIH1 were changed from Aicardi-Goutieres syndrome 7, 615846; seizures to Aicardi-Goutieres syndrome 7, OMIM:615846
Early onset or syndromic epilepsy v1.191 IFIH1 Rebecca Foulger Source Wessex and West Midlands GLH was added to IFIH1.
Early onset or syndromic epilepsy v1.190 IFIH1 Rebecca Foulger Source NHS GMS was added to IFIH1.
Early onset or syndromic epilepsy v1.189 IFIH1 Rebecca Foulger edited their review of gene: IFIH1: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.188 IFIH1 Tracy Lester reviewed gene: IFIH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24686847, 24995871; Phenotypes: Aicardi-Goutieres syndrome, 615846, Singleton-Merten syndrome, 182250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.727 IFIH1 Rebecca Foulger Classified gene: IFIH1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.727 IFIH1 Rebecca Foulger Gene: ifih1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.622 IFIH1 Rebecca Foulger Marked gene: IFIH1 as ready
Early onset or syndromic epilepsy v0.622 IFIH1 Rebecca Foulger Gene: ifih1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.622 IFIH1 Rebecca Foulger Classified gene: IFIH1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.622 IFIH1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green. Confirmed DD-G2P gene for Aicardi-Goutieres syndrome 7, which can present with seizures. Sufficient cases (>3) of seizures from PMID:24995871, PMID:24686847 and 29270977. Plus a number of other papers reporting seizures as a common phenotype of AGS (PMID:25604658).
Early onset or syndromic epilepsy v0.622 IFIH1 Rebecca Foulger Gene: ifih1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.621 IFIH1 Rebecca Foulger Publications for gene: IFIH1 were set to
Early onset or syndromic epilepsy v0.620 IFIH1 Rebecca Foulger Mode of inheritance for gene: IFIH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.619 IFIH1 Rebecca Foulger commented on gene: IFIH1: 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).
Early onset or syndromic epilepsy v0.619 IFIH1 Rebecca Foulger commented on gene: IFIH1: PMID:29270977 report a 7 year old Japanese girl with febrile seizures amongst her phenotypes and a novel IFIH1 variant.
Early onset or syndromic epilepsy v0.619 IFIH1 Rebecca Foulger commented on gene: IFIH1: 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.
Early onset or syndromic epilepsy v0.619 IFIH1 Rebecca Foulger commented on gene: IFIH1: 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.
Early onset or syndromic epilepsy v0.619 IFIH1 Rebecca Foulger commented on gene: IFIH1
Early onset or syndromic epilepsy v0.619 IFIH1 Rebecca Foulger Phenotypes for gene: IFIH1 were changed from to Aicardi-Goutieres syndrome 7, 615846; seizures
Early onset or syndromic epilepsy IFIH1 Zornitza Stark reviewed gene: IFIH1
Early onset or syndromic epilepsy IFIH1 Sarah Leigh Added gene to panel