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Early onset or syndromic epilepsy v1.191 PET100 Rebecca Foulger Source Wessex and West Midlands GLH was added to PET100.
Early onset or syndromic epilepsy v1.190 PET100 Rebecca Foulger Source NHS GMS was added to PET100.
Early onset or syndromic epilepsy v1.189 PET100 Rebecca Foulger edited their review of gene: PET100: 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 PET100 Tracy Lester reviewed gene: PET100: Rating: GREEN; Mode of pathogenicity: ; Publications: 24462369; Phenotypes: Mitochondrial complex IV deficiency,220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.748 PET100 Rebecca Foulger Marked gene: PET100 as ready
Early onset or syndromic epilepsy v0.748 PET100 Rebecca Foulger Gene: pet100 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.748 PET100 Rebecca Foulger Classified gene: PET100 as Green List (high evidence)
Early onset or syndromic epilepsy v0.748 PET100 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Green review, and Green rating agreed by Sarah Leigh. Seizures are a recognised phenotype of patients with Mitochondrial complex IV deficiency, which can be caused by variants in multiple genes, including PET100. 2 different PET100 variants reported so far in the literature (including a founder variant in Lebanese patients) in >3 unrelated individuals with seizures as a prominent phenotype (PMIDs24462369 and 23829769).
Early onset or syndromic epilepsy v0.748 PET100 Rebecca Foulger Gene: pet100 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.742 PET100 Rebecca Foulger commented on gene: PET100: Added 'founder effect' tag based on PMID:24462369 who identified a founder variant in patients of Lebanese descent.
Early onset or syndromic epilepsy v0.742 PET100 Rebecca Foulger Tag founder-effect tag was added to gene: PET100.
Early onset or syndromic epilepsy v0.740 PET100 Rebecca Foulger commented on gene: PET100: PMID:23829769 report a female patient born to British Pakistani parents with seizures beginning at 48 hours old. She died age 55 hours. She had a pathogenic homozygous nonsense variant in the PET100 gene (c.142C>T, p.Gln48*).
Early onset or syndromic epilepsy v0.740 PET100 Rebecca Foulger Publications for gene: PET100 were set to 24462369
Early onset or syndromic epilepsy v0.738 PET100 Rebecca Foulger Mode of inheritance for gene: PET100 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.737 PET100 Rebecca Foulger Phenotypes for gene: PET100 were changed from to Mitochondrial complex IV deficiency, 220110; seizures
Early onset or syndromic epilepsy v0.736 PET100 Rebecca Foulger commented on gene: PET100
Early onset or syndromic epilepsy v0.731 PET100 Rebecca Foulger Publications for gene: PET100 were set to
Early onset or syndromic epilepsy PET100 Zornitza Stark reviewed gene: PET100
Early onset or syndromic epilepsy PET100 Sarah Leigh Added gene to panel