| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Macrocephaly_Megalencephaly v0.149 | CHD1 | Zornitza Stark Marked gene: CHD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.149 | CHD1 | Zornitza Stark Gene: chd1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.149 | CHD1 | Zornitza Stark Classified gene: CHD1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.149 | CHD1 | Zornitza Stark Gene: chd1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.148 | CHD1 |
Boris Keren changed review comment from: Two of the 5 patients in the Pilarowski paper have macrocephaly associated with their neurodevelopmental disorder. All the variants in the Pilarowski paper are missenses, and the assumed mechanism is a dominant negative effect, although there are now a few pathogenic/likely pathogenic LoFs in ClinVar. Sources: Literature; to: Two of the 5 patients in the Pilarowski paper have macrocephaly associated with their neurodevelopmental disorder. All the variants in the Pilarowski paper are missenses, and the assumed mechanism is a dominant negative effect, although there are now a few pathogenic/likely pathogenic LoFs in ClinVar. Sources: Literature |
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| Macrocephaly_Megalencephaly v0.148 | CHD1 |
Boris Keren gene: CHD1 was added gene: CHD1 was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: CHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHD1 were set to 28866611 Phenotypes for gene: CHD1 were set to intellectual disability; macrocephaly Penetrance for gene: CHD1 were set to Incomplete Mode of pathogenicity for gene: CHD1 was set to Other Review for gene: CHD1 was set to AMBER gene: CHD1 was marked as current diagnostic Added comment: Two of the 5 patients in the Pilarowski paper have macrocephaly associated with their neurodevelopmental disorder. All the variants in the Pilarowski paper are missenses, and the assumed mechanism is a dominant negative effect, although there are now a few pathogenic/likely pathogenic LoFs in ClinVar. Sources: Literature |
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