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Early onset or syndromic epilepsy v1.236 PIK3CA Rebecca Foulger Marked gene: PIK3CA as ready
Early onset or syndromic epilepsy v1.236 PIK3CA Rebecca Foulger Gene: pik3ca has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v1.236 PIK3CA Rebecca Foulger Classified gene: PIK3CA as Red List (low evidence)
Early onset or syndromic epilepsy v1.236 PIK3CA Rebecca Foulger Gene: pik3ca has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v1.235 PIK3CA Rebecca Foulger commented on gene: PIK3CA: 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 to demote PIK3CA from Green to Red. This panel is not the appropriate test for somatic variant detection due to the coverage. R110 Segmental overgrowth disorders (panel #98) should be used where megalencephaly is present to allow detection of somatic mosaic mutations.
Early onset or syndromic epilepsy v1.191 PIK3CA Rebecca Foulger Source Wessex and West Midlands GLH was added to PIK3CA.
Early onset or syndromic epilepsy v1.190 PIK3CA Rebecca Foulger Source NHS GMS was added to PIK3CA.
Early onset or syndromic epilepsy v1.189 PIK3CA Rebecca Foulger reviewed gene: PIK3CA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 PIK3CA Tracy Lester reviewed gene: PIK3CA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v0.1059 PIK3CA Eleanor Williams Marked gene: PIK3CA as ready
Early onset or syndromic epilepsy v0.1059 PIK3CA Eleanor Williams Added comment: Comment when marking as ready: Sufficient cases
Early onset or syndromic epilepsy v0.1059 PIK3CA Eleanor Williams Gene: pik3ca has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1059 PIK3CA Eleanor Williams Classified gene: PIK3CA as Green List (high evidence)
Early onset or syndromic epilepsy v0.1059 PIK3CA Eleanor Williams Added comment: Comment on list classification: > 3 cases of variants in this gene associated with phenotype, and with seizures
Early onset or syndromic epilepsy v0.1059 PIK3CA Eleanor Williams Gene: pik3ca has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1058 PIK3CA Eleanor Williams Phenotypes for gene: PIK3CA were changed from to Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501
Early onset or syndromic epilepsy v0.1057 PIK3CA Eleanor Williams Publications for gene: PIK3CA were set to
Early onset or syndromic epilepsy v0.1056 PIK3CA Eleanor Williams Added comment: Comment on mode of pathogenicity: Gain of function
Early onset or syndromic epilepsy v0.1056 PIK3CA Eleanor Williams Mode of pathogenicity for gene: PIK3CA 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 v0.1046 PIK3CA Eleanor Williams Added comment: Comment on mode of inheritance: Note somatic mosiacism
Early onset or syndromic epilepsy v0.1046 PIK3CA Eleanor Williams Mode of inheritance for gene: PIK3CA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.1045 PIK3CA Eleanor Williams Tag mosaicism tag was added to gene: PIK3CA.
Tag somatic tag was added to gene: PIK3CA.
Early onset or syndromic epilepsy v0.1045 PIK3CA Eleanor Williams commented on gene: PIK3CA
Early onset or syndromic epilepsy PIK3CA Zornitza Stark reviewed gene: PIK3CA
Early onset or syndromic epilepsy PIK3CA Sarah Leigh Added gene to panel