Activity

Filter

Cancel
Date Panel Item Activity
3 actions
Genetic Epilepsy v0.2175 ITGB4 Elena Savva Marked gene: ITGB4 as ready
Genetic Epilepsy v0.2175 ITGB4 Elena Savva Gene: itgb4 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2175 ITGB4 Elena Savva gene: ITGB4 was added
gene: ITGB4 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGB4 were set to Epidermolysis bullosa, junctional 5A, intermediate MIM#619816; Epidermolysis bullosa, junctional 5B, with pyloric atresia MIM#226730
Review for gene: ITGB4 was set to RED
Added comment: No reports of seizures/epilepsy in probands with biallelic variants in this gene
Sources: Literature