| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital diaphragmatic hernia v1.10 | SETD5 | Zornitza Stark Marked gene: SETD5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v1.10 | SETD5 | Zornitza Stark Gene: setd5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v1.10 | SETD5 | Zornitza Stark Classified gene: SETD5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v1.10 | SETD5 | Zornitza Stark Gene: setd5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v1.9 | SETD5 |
Elena Savva gene: SETD5 was added gene: SETD5 was added to Congenital diaphragmatic hernia. Sources: Literature Mode of inheritance for gene: SETD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SETD5 were set to PMID: 28263952; 24680889 Phenotypes for gene: SETD5 were set to Intellectual developmental disorder, autosomal dominant 23 MIM#615761 Review for gene: SETD5 was set to GREEN Added comment: Internal VCGS patient with a de novo PTC, p.Lys766Glufs*35, and features including diaphragmatic hernia and ID. PMID: 28263952 - describes an additional patient with a PTC, with diaphragmatic hernia and severe cerebral cortical dysplasia PMID: 24680889 - 2 reported children with PTCs had inguinal hernia, 1 had paraumbilical hernia Sources: Literature |
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