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| DDG2P v3.56 | PCGF2 | Achchuthan Shanmugasundram Tag watchlist was removed from gene: PCGF2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.56 | PCGF2 |
Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Craniofacial Neurological Cardiovascular and Skeletal Features is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:30526864). The DDG2P confidence category for the disease INTELLECTUAL DISABILITY is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure.; to: The DDG2P confidence category for the disease Craniofacial Neurological Cardiovascular and Skeletal Features is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:30526864). The DDG2P confidence category for the disease INTELLECTUAL DISABILITY is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure. |
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| DDG2P v3.12 | PCGF2 | Achchuthan Shanmugasundram reviewed gene: PCGF2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30526864; Phenotypes: Craniofacial Neurological Cardiovascular and Skeletal Features, INTELLECTUAL DISABILITY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PCGF2 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene PCGF2 was changed from Other - please provide details in the comments to Other Publications for gene: PCGF2 were updated from to 30526864 |
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| DDG2P v1.30 | PCGF2 | Rebecca Foulger commented on gene: PCGF2: Added 'watchlist' tag to reflect multiple Disease confidence ratings for different disorders in Gene2Phenotype: Rated probable for INTELLECTUAL DUSBILITY. Rated confirmed for Craniofacial Neurological Cardiovascular and Skeletal. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.30 | PCGF2 | Rebecca Foulger Tag watchlist tag was added to gene: PCGF2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.30 | PCGF2 | Rebecca Foulger Classified gene: PCGF2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.30 | PCGF2 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green to reflect 'confirmed' disorder added to Gene2Phenotype in March 2019 (Craniofacial Neurological Cardiovascular and Skeletal). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.30 | PCGF2 | Rebecca Foulger Gene: pcgf2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.29 | PCGF2 | Rebecca Foulger commented on gene: PCGF2: New gene:disorder association added to DDG2P in March 2019: Craniofacial Neurological Cardiovascular and Skeletal Features. DDG2P Disease confidence: confirmed. DDG2P mode of pathogenicity/mutation consequence: all missense/in frame. DDG2P mode of inheritance: monoallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.29 | PCGF2 | Rebecca Foulger Phenotypes for gene: PCGF2 were changed from INTELLECTUAL DUSBILITY to INTELLECTUAL DUSBILITY; Craniofacial Neurological Cardiovascular and Skeletal Features | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PCGF2 | Rebecca Foulger reviewed gene: PCGF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PCGF2 |
Rebecca Foulger gene: PCGF2 was added gene: PCGF2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PCGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PCGF2 were set to INTELLECTUAL DUSBILITY Mode of pathogenicity for gene: PCGF2 was set to Other - please provide details in the comments |
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