| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Polymicrogyria and Schizencephaly v0.144 | COL4A2 | Zornitza Stark Marked gene: COL4A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.144 | COL4A2 | Zornitza Stark Gene: col4a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.144 | COL4A2 | Zornitza Stark Phenotypes for gene: COL4A2 were changed from 614483 to Brain small vessel disease 2, MIM#614483 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.143 | COL4A2 | Zornitza Stark Classified gene: COL4A2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.143 | COL4A2 | Zornitza Stark Gene: col4a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.142 | COL4A2 |
Chloe Stutterd gene: COL4A2 was added gene: COL4A2 was added to Polymicrogyria and Schizencephaly. Sources: Literature Mode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL4A2 were set to 30315939 Phenotypes for gene: COL4A2 were set to 614483 Review for gene: COL4A2 was set to AMBER Added comment: Two unrelated individuals reported with PMG. Third unrelated family identified in MCRI study not yet published Sources: Literature |
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