Activity

Filter

Cancel
Date Panel Item Activity
5 actions
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