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Early onset or syndromic epilepsy v1.443 GFM1 Rebecca Foulger Classified gene: GFM1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.443 GFM1 Rebecca Foulger Gene: gfm1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.442 GFM1 Rebecca Foulger commented on gene: GFM1: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call 22nd November 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is insufficient evidence to rate this gene Green. Better tested through the metabolic panel. Demoted from Green to Amber.
Early onset or syndromic epilepsy v1.412 GFM1 Rebecca Foulger Publications for gene: GFM1 were set to 25852744; 26937387; 28216230; 23430926; 21986555
Early onset or syndromic epilepsy v1.411 GFM1 Rebecca Foulger commented on gene: GFM1: PMID:28216230 (Simon et al., 2017) report 2 brothers with compound het variants in GFM1 (maternally-inherited p.Arg250Trp and paternally-inherited p.Gly230_231Glnins19). The younger brother (P1) developed seizures by 4.5 months, characterised as infantile spasms. He has remained seizure free on treatment with topiramate. No seizures were noted for the brother who died age 10 months from multiple organ failure. The authors suggest additional modifier genes may be responsible for the different in severity between the brothers.
Early onset or syndromic epilepsy v1.411 GFM1 Rebecca Foulger commented on gene: GFM1: PMID:26937387 (Ravn et al., 2015) describe 3 patients with novel GFM1 variants. Patient 3 (a girl of non-consanguineous parents) had epileptic seizures beginning at 2 months old. She died at 3 months during a febrile episode.
Early onset or syndromic epilepsy v1.411 GFM1 Rebecca Foulger commented on gene: GFM1: PMID:21986555. Galmiche et al., 2012 report two unrelated patients with homozygous GFM1 variants (R671C). The parents were both heterozygous for this variant For the first patient (an Algerian boy from consanguineous parents), no clinical seizures were noted but EEG showed burst of multifocal spikes.
Early onset or syndromic epilepsy v1.411 GFM1 Rebecca Foulger commented on gene: GFM1: PMID:25852744. Brito et al., 2015 report an infant born to unrelated Caucasian parents with seizures amongst her phenotype (starting age 7 months) and compound het variants in GFM1 (Gly469Valfs*84 and Arg671Cys). The authors summarise clinical features of previous GFM1-deficient patients and note seizures in 5/12 patients.
Early onset or syndromic epilepsy v1.411 GFM1 Rebecca Foulger commented on gene: GFM1: PMID:21119709. In a girl, born of consanguineous parents, with combined oxidative phosphorylation deficiency, Smits et al. (2011) identified a homozygous R250W variant in GFM1. The patient had refractory seizures amongst her phenotypes. This paper is referred to in the review by Tracy Lester.
Early onset or syndromic epilepsy v1.191 GFM1 Rebecca Foulger Source Wessex and West Midlands GLH was added to GFM1.
Early onset or syndromic epilepsy v1.190 GFM1 Rebecca Foulger Source NHS GMS was added to GFM1.
Early onset or syndromic epilepsy v1.189 GFM1 Rebecca Foulger reviewed gene: GFM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 GFM1 Tracy Lester reviewed gene: GFM1: Rating: AMBER; Mode of pathogenicity: ; Publications: 21119709; Phenotypes: Combined oxidative phosphorylation deficiency, 609060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1450 GFM1 Sarah Leigh Classified gene: GFM1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1450 GFM1 Sarah Leigh Gene: gfm1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1449 GFM1 Sarah Leigh Marked gene: GFM1 as ready
Early onset or syndromic epilepsy v0.1449 GFM1 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least five variants reported in at least three unrelated cases in which seizures are a phenotypic feature.
Early onset or syndromic epilepsy v0.1449 GFM1 Sarah Leigh Gene: gfm1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1449 GFM1 Sarah Leigh Mode of inheritance for gene: GFM1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1448 GFM1 Sarah Leigh Phenotypes for gene: GFM1 were changed from to Combined oxidative phosphorylation deficiency 1 609060
Early onset or syndromic epilepsy v0.1447 GFM1 Sarah Leigh Publications for gene: GFM1 were set to
Early onset or syndromic epilepsy GFM1 Zornitza Stark reviewed gene: GFM1
Early onset or syndromic epilepsy GFM1 Sarah Leigh Added gene to panel