Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Intellectual disability syndromic and non-syndromic v0.4963 RABGAP1 Zornitza Stark Marked gene: RABGAP1 as ready
Intellectual disability syndromic and non-syndromic v0.4963 RABGAP1 Zornitza Stark Gene: rabgap1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4963 RABGAP1 Zornitza Stark Classified gene: RABGAP1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4963 RABGAP1 Zornitza Stark Gene: rabgap1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4962 RABGAP1 Zornitza Stark gene: RABGAP1 was added
gene: RABGAP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: RABGAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RABGAP1 were set to 36083289
Phenotypes for gene: RABGAP1 were set to Neurodevelopmental disorder, RABGAP1-related,MONDO:0700092
Review for gene: RABGAP1 was set to GREEN
Added comment: 5 individuals from three families reported with ID, microcephaly, SNHL and seizures. Mouse model recapitulated the phenotype.
Sources: Literature