| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital diaphragmatic hernia v0.9 | SPECC1L | Zornitza Stark Marked gene: SPECC1L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v0.9 | SPECC1L | Zornitza Stark Gene: specc1l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v0.9 | SPECC1L | Zornitza Stark Classified gene: SPECC1L as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v0.9 | SPECC1L | Zornitza Stark Gene: specc1l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v0.8 | SPECC1L |
Zornitza Stark gene: SPECC1L was added gene: SPECC1L was added to Congenital diaphragmatic hernia. Sources: Literature Mode of inheritance for gene: SPECC1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPECC1L were set to 32954677 Phenotypes for gene: SPECC1L were set to Opitz GBBB syndrome, type II, MIM# 145410 Review for gene: SPECC1L was set to GREEN Added comment: 5 individuals with CDH and AD Opitz GBBB syndrome caused by SPECC1L variants reported. Sources: Literature |
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