Activity

Filter

Cancel
Date Panel Item Activity
34 actions
Early onset or syndromic epilepsy v2.209 PIGH Eleanor Williams Publications for gene: PIGH were set to 29603516; 29573052
Early onset or syndromic epilepsy v2.208 PIGH Eleanor Williams commented on gene: PIGH
Early onset or syndromic epilepsy v1.223 PIGH Rebecca Foulger Marked gene: PIGH as ready
Early onset or syndromic epilepsy v1.223 PIGH Rebecca Foulger Gene: pigh has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.223 PIGH Rebecca Foulger changed review comment from: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019: Agreed that there is enough evidence to rate this gene Green: PIGx genes act in the same biochemical pathway. Promoted from Amber to Green.; to: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is enough evidence to rate this gene Green: PIGx genes act in the same biochemical pathway. Promoted from Amber to Green.
Early onset or syndromic epilepsy v1.220 PIGH Rebecca Foulger Classified gene: PIGH as Green List (high evidence)
Early onset or syndromic epilepsy v1.220 PIGH Rebecca Foulger Gene: pigh has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.219 PIGH Rebecca Foulger commented on gene: PIGH: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019: Agreed that there is enough evidence to rate this gene Green: PIGx genes act in the same biochemical pathway. Promoted from Amber to Green.
Early onset or syndromic epilepsy v1.191 PIGH Rebecca Foulger Source Wessex and West Midlands GLH was added to PIGH.
Early onset or syndromic epilepsy v1.190 PIGH Rebecca Foulger Source NHS GMS was added to PIGH.
Early onset or syndromic epilepsy v1.189 PIGH Rebecca Foulger edited their review of gene: PIGH: 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: Alison Callaway and John Taylor. Suggested gene rating: Green. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.188 PIGH Tracy Lester reviewed gene: PIGH: Rating: GREEN; Mode of pathogenicity: ; Publications: 29573052; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 17, 618010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.99 PIGH Rebecca Foulger Classified gene: PIGH as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.99 PIGH Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber following review of Literature evidence. Although Zornitza rates as Green, PIGH is not yet associated with a disorder in Gene2Phenotype. There are only two relevant papers in the literature: PMID:29573052 report two siblings, and the individual in PMID:29603516 had only febrile seizures (no epilepsy).
Early onset or syndromic epilepsy v1.99 PIGH Rebecca Foulger Gene: pigh has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.98 PIGH Rebecca Foulger changed review comment from: PMID:29603516: Nguyen et al., 2018 identified an individual with a missense variant (p.Ser103Pro) in gene PIGH. The affected individual had hypotonia, moderate developmental delay, and autism. The proband did not have epilepsy; however, he did have two episodes of febrile seizures.; to: PMID:29603516: Nguyen et al., 2018 identified an individual with a missense variant (p.Ser103Pro) in gene PIGH. The affected individual who was born of consanguineous Indian parents had hypotonia, moderate developmental delay, and autism. The proband did not have epilepsy; however, he did have two episodes of febrile seizures.
Early onset or syndromic epilepsy v1.98 PIGH Rebecca Foulger Added comment: Comment on publications: PMID:29603510 isn't relevant to epilepsy so haven't included in the Publication field. Zornitza probably meant PMID:29603516.
Early onset or syndromic epilepsy v1.98 PIGH Rebecca Foulger Publications for gene: PIGH were set to 29603516; 29573052
Early onset or syndromic epilepsy v1.97 PIGH Rebecca Foulger commented on gene: PIGH: PMID:29603516: Nguyen et al., 2018 identified an individual with a missense variant (p.Ser103Pro) in gene PIGH. The affected individual had hypotonia, moderate developmental delay, and autism. The proband did not have epilepsy; however, he did have two episodes of febrile seizures.
Early onset or syndromic epilepsy v1.97 PIGH Rebecca Foulger commented on gene: PIGH
Early onset or syndromic epilepsy v1.97 PIGH Rebecca Foulger Phenotypes for gene: PIGH were changed from Glycosylphosphatidylinositol biosynthesis defect 17 618010 to Glycosylphosphatidylinositol biosynthesis defect 17, 618010; epilepsy; febrile seizures
Early onset or syndromic epilepsy v0.491 PIGH Sarah Leigh Marked gene: PIGH as ready
Early onset or syndromic epilepsy v0.491 PIGH Sarah Leigh Gene: pigh has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.491 PIGH Sarah Leigh Classified gene: PIGH as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.491 PIGH Sarah Leigh Gene: pigh has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.490 PIGH Sarah Leigh Classified gene: PIGH as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.490 PIGH Sarah Leigh Gene: pigh has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.489 PIGH Sarah Leigh Tag watchlist tag was added to gene: PIGH.
Early onset or syndromic epilepsy v0.489 PIGH Sarah Leigh Added comment: Comment on phenotypes: PMID: 29573052 mentions the following phenotype: hypotonia, moderate developmental delay, and autism, two episodes of febrile seizures
Early onset or syndromic epilepsy v0.489 PIGH Sarah Leigh Phenotypes for gene: PIGH were changed from Hypotonia, moderate developmental delay, and autism, two episodes of febrile seizures to Glycosylphosphatidylinositol biosynthesis defect 17 618010
Early onset or syndromic epilepsy v0.488 PIGH Sarah Leigh Publications for gene: PIGH were set to 29603516; 29573052; 29603510
Early onset or syndromic epilepsy v0.487 PIGH Sarah Leigh Publications for gene: PIGH were set to 29603516
Early onset or syndromic epilepsy PIGH Zornitza Stark reviewed gene: PIGH
Early onset or syndromic epilepsy PIGH Sarah Leigh Added gene to panel