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| DDG2P v3.40 | PIK3CA | Achchuthan Shanmugasundram Phenotypes for gene: PIK3CA were changed from HEMIMEGALENCEPHALY PIK3CA; CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, OMIM:612918; MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3, OMIM:602501 to HEMIMEGALENCEPHALY PIK3CA; CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, OMIM:612918; MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3, OMIM:602501 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.40 | PIK3CA | Achchuthan Shanmugasundram Phenotypes for gene: PIK3CA were changed from HEMIMEGALENCEPHALY PIK3CA; CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, OMIM:612918; MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3, OMIM:602501 to HEMIMEGALENCEPHALY PIK3CA; CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, OMIM:612918; MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3, OMIM:602501 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.40 | PIK3CA | Achchuthan Shanmugasundram Phenotypes for gene: PIK3CA were changed from CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI 612918; MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3 602501; HEMIMEGALENCEPHALY PIK3CA to HEMIMEGALENCEPHALY PIK3CA; CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, OMIM:612918; MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3, OMIM:602501 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.14 | PIK3CA |
Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, OMIM:612918 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:22658544). The DDG2P confidence category for the disease MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3, OMIM:602501 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:22729224). The DDG2P confidence category for the disease HEMIMEGALENCEPHALY PIK3CA is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure.; to: The DDG2P confidence category for the disease CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, OMIM:612918 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically mosaic respectively (PMID:22658544). The DDG2P confidence category for the disease MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3, OMIM:602501 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically mosaic respectively (PMID:22729224). The DDG2P confidence category for the disease HEMIMEGALENCEPHALY PIK3CA is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically mosaic respectively. |
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| DDG2P v3.12 | PIK3CA | Achchuthan Shanmugasundram reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22658544, 22729224; Phenotypes: HEMIMEGALENCEPHALY PIK3CA, CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, OMIM:612918, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3, OMIM:602501; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PIK3CA |
Achchuthan Shanmugasundram Mode of pathogenicity for gene PIK3CA was changed from Other - please provide details in the comments to Other Publications for gene: PIK3CA were updated from 22729224 to 22658544; 22729224 |
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| DDG2P v0.3 | PIK3CA | Rebecca Foulger Tag mosaicism tag was added to gene: PIK3CA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.3 | PIK3CA | Rebecca Foulger commented on gene: PIK3CA: Mosaicism tag added: In DD-G2P download, mosaic MOI listed for CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI 612918, HEMIMEGALENCEPHALY PIK3CA and MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3 602501. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PIK3CA | Rebecca Foulger reviewed gene: PIK3CA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PIK3CA |
Rebecca Foulger Added phenotypes MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3 602501 for gene: PIK3CA Publications for gene PIK3CA were changed from 22658544 to 22729224 |
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| DDG2P v0.1 | PIK3CA | Rebecca Foulger Added phenotypes HEMIMEGALENCEPHALY PIK3CA for gene: PIK3CA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PIK3CA |
Rebecca Foulger gene: PIK3CA was added gene: PIK3CA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PIK3CA were set to 22658544 Phenotypes for gene: PIK3CA were set to CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI 612918 Mode of pathogenicity for gene: PIK3CA was set to Other - please provide details in the comments |
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