| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Macrocephaly_Megalencephaly v0.46 | CHD4 | Seb Lunke Marked gene: CHD4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.46 | CHD4 | Seb Lunke Gene: chd4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.46 | CHD4 | Seb Lunke Classified gene: CHD4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.46 | CHD4 | Seb Lunke Gene: chd4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.45 | CHD4 |
Ain Roesley gene: CHD4 was added gene: CHD4 was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: CHD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CHD4 were set to 31388190; 27616479 Phenotypes for gene: CHD4 were set to Sifrim-Hitz-Weiss syndrome (MIM#617159) Penetrance for gene: CHD4 were set to unknown Review for gene: CHD4 was set to GREEN Added comment: PMID: 31388190 Out of 32 probands, 5 had OFC of > 3 SD PMID: 27616479 Out of 5 patients, 3 had OFC of >98th percentiles and 1x 90th * all de novo variants Sources: Literature |
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