Activity

Filter

Cancel
Date Panel Item Activity
3 actions
Mendeliome v0.9249 KDM7A Zornitza Stark Marked gene: KDM7A as ready
Mendeliome v0.9249 KDM7A Zornitza Stark Gene: kdm7a has been classified as Red List (Low Evidence).
Mendeliome v0.9249 KDM7A Zornitza Stark gene: KDM7A was added
gene: KDM7A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KDM7A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM7A were set to 25666757
Phenotypes for gene: KDM7A were set to Cerebral palsy
Review for gene: KDM7A was set to RED
Added comment: Synonyms: JHDMID, KDM7, KIAA1718

De novo missense VUS identified in a WES CP cohort study, no other reports.
Sources: Literature