Activity

Filter

Cancel
Date Panel Item Activity
3 actions
Intellectual disability syndromic and non-syndromic v0.5767 BANF1 Zornitza Stark Marked gene: BANF1 as ready
Intellectual disability syndromic and non-syndromic v0.5767 BANF1 Zornitza Stark Gene: banf1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.5767 BANF1 Zornitza Stark gene: BANF1 was added
gene: BANF1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: BANF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BANF1 were set to 35982159
Phenotypes for gene: BANF1 were set to Neurodevelopmental disorder, MONDO:0700092, BANF1-related
Review for gene: BANF1 was set to RED
Added comment: Single individual reported with a de novo variant, p.Ala87Thr, and a neurodevelopmental disorder.
Sources: Literature