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Early onset or syndromic epilepsy v2.0 CNPY3 Louise Daugherty Tag watchlist was removed from gene: CNPY3.
Early onset or syndromic epilepsy v2.0 CNPY3 Louise Daugherty commented on gene: CNPY3
Early onset or syndromic epilepsy v1.233 CNPY3 Rebecca Foulger Marked gene: CNPY3 as ready
Early onset or syndromic epilepsy v1.233 CNPY3 Rebecca Foulger Gene: cnpy3 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.222 CNPY3 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. Helen Lord (Oxford Medical Genetics Laboratories) notes that there are two further 2019 paper supporting inclusion. 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. Helen Lord (Oxford Medical Genetics Laboratories) notes that there are two further 2019 paper supporting inclusion. Promoted from Amber to Green.
Early onset or syndromic epilepsy v1.214 CNPY3 Rebecca Foulger Classified gene: CNPY3 as Green List (high evidence)
Early onset or syndromic epilepsy v1.214 CNPY3 Rebecca Foulger Gene: cnpy3 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.213 CNPY3 Rebecca Foulger commented on gene: CNPY3: 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. Helen Lord (Oxford Medical Genetics Laboratories) notes that there are two further 2019 paper supporting inclusion. Promoted from Amber to Green.
Early onset or syndromic epilepsy v1.191 CNPY3 Rebecca Foulger Source Wessex and West Midlands GLH was added to CNPY3.
Early onset or syndromic epilepsy v1.190 CNPY3 Rebecca Foulger Source NHS GMS was added to CNPY3.
Early onset or syndromic epilepsy v1.189 CNPY3 Rebecca Foulger edited their review of gene: CNPY3: 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 CNPY3 Tracy Lester reviewed gene: CNPY3: Rating: GREEN; Mode of pathogenicity: ; Publications: 29394991; Phenotypes: Epileptic encephalopathy, early infantile, 60, 617929; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.77 CNPY3 Rebecca Foulger Classified gene: CNPY3 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.77 CNPY3 Rebecca Foulger Added comment: Comment on list classification: Re-reviewed gene:disease association for CNPY3 during curation of GMS panel. Amber rating is still appropriate: Probable Disease confidence rating in DD-G2P for EARLY ONSET EPILEPTIC ENCEPHALOPATHY, and literature evidence remains at 3 patients from 2 unrelated families from one paper (PMID:29394991) with limited segregation data from one of the families.
Early onset or syndromic epilepsy v1.77 CNPY3 Rebecca Foulger Gene: cnpy3 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.76 CNPY3 Rebecca Foulger commented on gene: CNPY3
Early onset or syndromic epilepsy v0.1438 CNPY3 Sarah Leigh Marked gene: CNPY3 as ready
Early onset or syndromic epilepsy v0.1438 CNPY3 Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least three variants identified in two unrelated cases.
Early onset or syndromic epilepsy v0.1438 CNPY3 Sarah Leigh Gene: cnpy3 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1438 CNPY3 Sarah Leigh Tag watchlist tag was added to gene: CNPY3.
Early onset or syndromic epilepsy v0.1438 CNPY3 Sarah Leigh Publications for gene: CNPY3 were set to
Early onset or syndromic epilepsy v0.1437 CNPY3 Sarah Leigh Mode of inheritance for gene: CNPY3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1436 CNPY3 Sarah Leigh Phenotypes for gene: CNPY3 were changed from to Epileptic encephalopathy, early infantile, 60 617929
Early onset or syndromic epilepsy CNPY3 Zornitza Stark reviewed gene: CNPY3
Early onset or syndromic epilepsy CNPY3 Sarah Leigh Added gene to panel