| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital diaphragmatic hernia v0.31 | EFEMP2 | Zornitza Stark Marked gene: EFEMP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v0.31 | EFEMP2 | Zornitza Stark Gene: efemp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v0.31 | EFEMP2 | Zornitza Stark Classified gene: EFEMP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v0.31 | EFEMP2 | Zornitza Stark Gene: efemp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v0.30 | EFEMP2 |
Zornitza Stark gene: EFEMP2 was added gene: EFEMP2 was added to Congenital diaphragmatic hernia. Sources: Expert list Mode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EFEMP2 were set to 30140196; 21563328 Phenotypes for gene: EFEMP2 were set to Cutis laxa, autosomal recessive, type IB, MIM# 614437 Review for gene: EFEMP2 was set to GREEN Added comment: Autosomal recessive cutis laxa type IB (ARCL1B) is characterized by the presence of severe systemic connective tissue abnormalities, including emphysema, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels. Diaphragmatic hypoplasia and hernia are features in 25-90%. Sources: Expert list |
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