| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital diaphragmatic hernia v0.22 | GATA6 | Zornitza Stark Marked gene: GATA6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v0.22 | GATA6 | Zornitza Stark Gene: gata6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v0.22 | GATA6 | Zornitza Stark Classified gene: GATA6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v0.22 | GATA6 | Zornitza Stark Gene: gata6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v0.21 | GATA6 |
Zornitza Stark gene: GATA6 was added gene: GATA6 was added to Congenital diaphragmatic hernia. Sources: Expert list Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GATA6 were set to 31301121 Phenotypes for gene: GATA6 were set to Pancreatic agenesis and congenital heart defects, MIM# 600001 Review for gene: GATA6 was set to GREEN Added comment: Recent review of 78 published cases: most common phenotypes were structural cardiac and pancreatic abnormalities, with a penetrance of 87 and 60%, respectively. Other common malformations were gallbladder agenesis, congenital diaphragmatic hernia, and neurocognitive abnormalities, mostly developmental delay. Approximately half were inherited, variable expressivity. Sources: Expert list |
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