Activity
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7 actions
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| Limb disorders v0.273 | PIK3CA | Eleanor Williams Marked gene: PIK3CA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v0.273 | PIK3CA | Eleanor Williams Gene: pik3ca has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v0.273 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v0.271 | PIK3CA |
Eleanor Williams Source Expert Review Green was added to PIK3CA. Mode of inheritance for gene PIK3CA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Macrodactyly, somatic 155500; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501; CLOVE syndrome, somatic 612918; CLAPO syndrome, somatic 613089 for gene: PIK3CA Publications for gene PIK3CA were changed from to 23100325; 19353582; 29446767; 22729224; 19011570 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Limb disorders v0.270 | PIK3CA | Sarah Leigh reviewed gene: PIK3CA: 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: 23100325, 29446767, 19011570, 19353582, 22729224; Phenotypes: Macrodactyly, somatic 155500, CLAPO syndrome, somatic 613089, CLOVE syndrome, somatic 612918, Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v0.249 | PIK3CA |
Sarah Leigh Tag mosaicism tag was added to gene: PIK3CA. Tag somatic tag was added to gene: PIK3CA. |
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| Limb disorders | PIK3CA | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||