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Early onset or syndromic epilepsy v1.191 FARS2 Rebecca Foulger Source Wessex and West Midlands GLH was added to FARS2.
Early onset or syndromic epilepsy v1.190 FARS2 Rebecca Foulger Source NHS GMS was added to FARS2.
Early onset or syndromic epilepsy v1.189 FARS2 Rebecca Foulger edited their review of gene: FARS2: 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 FARS2 Tracy Lester reviewed gene: FARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24161539, 29126765; Phenotypes: Combined oxidative phosphorylation deficiency 14, 614946, Spastic paraplegia 77, 617046; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1259 FARS2 Rebecca Foulger Marked gene: FARS2 as ready
Early onset or syndromic epilepsy v0.1259 FARS2 Rebecca Foulger Gene: fars2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1259 FARS2 Rebecca Foulger Classified gene: FARS2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1259 FARS2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Green review by Zornitza- seizures are a common phentoype of MIM:614946. Plenty of unrelated (>3) cases of seizures in FARS2 patients from the literature (PMIDs 24161539, 22833457, 22499341, 28043061) as summarised in 29126765.
Early onset or syndromic epilepsy v0.1259 FARS2 Rebecca Foulger Gene: fars2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1258 FARS2 Rebecca Foulger commented on gene: FARS2: PMID:22499341 (Shamseldin et al 2012) report an index patient and her two siblings with a homozygous FARS2 variant c.431A>G (p.Y144C). The patients had uncontrolled seizures starting in infancy.
Early onset or syndromic epilepsy v0.1258 FARS2 Rebecca Foulger commented on gene: FARS2: Cho et al, 2017 (PMID:28043061) report a novel homozgyous c.925G>A (G309S) missense variant in FARS2 in 4 patients from 2 nonconsanguineous Korean families. All 4 patients had intractable seizures.
Early onset or syndromic epilepsy v0.1258 FARS2 Rebecca Foulger commented on gene: FARS2: PMID:22833457 (Elo et al 2012) discovered compound het FARS2 variants in two siblings with fatal epileptic mitochondrial encephalopathy (p.I329T and p.D391V).
Early onset or syndromic epilepsy v0.1258 FARS2 Rebecca Foulger commented on gene: FARS2
Early onset or syndromic epilepsy v0.1258 FARS2 Rebecca Foulger Publications for gene: FARS2 were set to 24161539, 22833457, 22499341, 29126765
Early onset or syndromic epilepsy v0.1257 FARS2 Rebecca Foulger Publications for gene: FARS2 were set to
Early onset or syndromic epilepsy v0.1256 FARS2 Rebecca Foulger Mode of inheritance for gene: FARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1255 FARS2 Rebecca Foulger Phenotypes for gene: FARS2 were changed from to Combined oxidative phosphorylation deficiency 14, 614946
Early onset or syndromic epilepsy FARS2 Zornitza Stark reviewed gene: FARS2
Early onset or syndromic epilepsy FARS2 Sarah Leigh Added gene to panel