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| DDG2P v3.12 | CHD3 | Achchuthan Shanmugasundram reviewed gene: CHD3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30397230; Phenotypes: Macrocephaly and impaired speech and language; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CHD3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CHD3. Mode of pathogenicity for gene CHD3 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.71 | CHD3 | Rebecca Foulger Phenotypes for gene: CHD3 were changed from Apraxia of speech to Macrocephaly and impaired speech and language | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.70 | CHD3 | Rebecca Foulger Added comment: Comment on publications: Added PMID:30397230 based on June 2019 DD-G2P update for CHD3. Removed PMID:29463886 as it is no longer listed as a reference in DD-G2P for CHD3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.70 | CHD3 | Rebecca Foulger Publications for gene: CHD3 were set to 29463886 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.69 | CHD3 | Rebecca Foulger Added comment: Comment on phenotypes: Replaced phenotype 'Apraxia of speech' with 'Macrocephaly and impaired speech and language' to reflect June 2019 DD-G2P update for CHD3. Disease confidence rating remains as: probable. Mode of inheritance remains as: monoallelic. Mode of pathogenicity remains as: all missense/in frame. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.69 | CHD3 | Rebecca Foulger Phenotypes for gene: CHD3 were changed from Apraxia of speech to Apraxia of speech | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.40 | CHD3 | Rebecca Foulger Publications for gene: CHD3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CHD3 | Rebecca Foulger reviewed gene: CHD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CHD3 |
Rebecca Foulger gene: CHD3 was added gene: CHD3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CHD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CHD3 were set to Apraxia of speech Mode of pathogenicity for gene: CHD3 was set to Other - please provide details in the comments |
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