Activity

Filter

Cancel
Date Panel Item Activity
22 actions
Early onset or syndromic epilepsy v4.40 RHEB Arina Puzriakova changed review comment from: Comment on list classification: There is sufficient evidence to support an association with epilepsy; however, it is worth noting that variants are brain-specific somatic. Still adding to this panel as other somatic mosaic genes (e.g. GNAQ, MTOR, TSC1, TSC2) are included.; to: Comment on list classification: There is sufficient evidence to support an association with epilepsy; however, it is worth noting that variants are brain-specific somatic. Still adding to this panel as other somatic mosaic genes are included (e.g. GNAQ, MTOR, TSC1, TSC2).
Early onset or syndromic epilepsy v4.40 RHEB Arina Puzriakova changed review comment from: Comment on list classification: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; to: Comment on list classification: There is sufficient evidence to support an association with epilepsy; however, it is worth noting that variants are brain-specific somatic. Still adding to this panel as other somatic mosaic genes (e.g. GNAQ, MTOR, TSC1, TSC2) are included.
Early onset or syndromic epilepsy v2.455 GNAQ Eleanor Williams Tag mosaicism tag was added to gene: GNAQ.
Tag somatic tag was added to gene: GNAQ.
Early onset or syndromic epilepsy v2.455 GNAQ Eleanor Williams Phenotypes for gene: GNAQ were changed from Sturge-Weber syndrome, somatic, mosaic, 185300 to Sturge-Weber syndrome, somatic, mosaic, OMIM:185300
Early onset or syndromic epilepsy v2.454 GNAQ Eleanor Williams Publications for gene: GNAQ were set to 25374402; 23656586; 28126187
Early onset or syndromic epilepsy v2.453 GNAQ Eleanor Williams reviewed gene: GNAQ: Rating: ; Mode of pathogenicity: None; Publications: 34124757; Phenotypes: Sturge-Weber syndrome, somatic, mosaic, OMIM:185300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v1.191 GNAQ Rebecca Foulger Source Wessex and West Midlands GLH was added to GNAQ.
Early onset or syndromic epilepsy v1.190 GNAQ Rebecca Foulger Source NHS GMS was added to GNAQ.
Early onset or syndromic epilepsy v1.189 GNAQ Rebecca Foulger reviewed gene: GNAQ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 GNAQ Tracy Lester reviewed gene: GNAQ: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 28454448; Phenotypes: Capillary malformations, congenital, 1, somatic, mosaic 163000, Sturge-Weber syndrome, somatic, mosaic 185300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.1460 GNAQ Sarah Leigh Marked gene: GNAQ as ready
Early onset or syndromic epilepsy v0.1460 GNAQ Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least one variant (rs397514698) was identified in at least 12/15 cases of Sturge-Weber syndrome, somatic, mosaic, 185300 (PMID 25374402). The percentage of the gain of function variant in brain tissues of these 12 patients ranged from 3.6 to 8.9%.
Early onset or syndromic epilepsy v0.1460 GNAQ Sarah Leigh Gene: gnaq has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1460 GNAQ Sarah Leigh Classified gene: GNAQ as Green List (high evidence)
Early onset or syndromic epilepsy v0.1460 GNAQ Sarah Leigh Gene: gnaq has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1458 GNAQ Sarah Leigh Publications for gene: GNAQ were set to
Early onset or syndromic epilepsy v0.1457 GNAQ Sarah Leigh Added comment: Comment on mode of pathogenicity: Somatic gain of function
Early onset or syndromic epilepsy v0.1457 GNAQ Sarah Leigh Mode of pathogenicity for gene: GNAQ was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Early onset or syndromic epilepsy v0.1456 GNAQ Sarah Leigh Mode of inheritance for gene: GNAQ was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.1451 GNAQ Sarah Leigh Phenotypes for gene: GNAQ were changed from to Sturge-Weber syndrome, somatic, mosaic, 185300
Early onset or syndromic epilepsy GNAQ Zornitza Stark reviewed gene: GNAQ
Early onset or syndromic epilepsy GNAQ Sarah Leigh Added gene to panel