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| Congenital diaphragmatic hernia v1.3 | LONP1 | Seb Lunke Marked gene: LONP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v1.3 | LONP1 | Seb Lunke Gene: lonp1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v1.3 | LONP1 |
Seb Lunke gene: LONP1 was added gene: LONP1 was added to Congenital diaphragmatic hernia. Sources: Literature Mode of inheritance for gene: LONP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LONP1 were set to 34547244 Phenotypes for gene: LONP1 were set to Congenital diaphragmatic hernia Penetrance for gene: LONP1 were set to Incomplete Review for gene: LONP1 was set to RED Added comment: LONP1 described as potential new risk factor for CDH. Putative disruptive variants are enriched by approx a factor 10 fold, but remain rare (up to 3% of studied CDH cohort). Segregation studies in 5 families showed incomplete penetrance, at ~50%. A mouse model with lung specific know-out had impaired lung development, but het mice unaffected. Sources: Literature |
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