Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Brain Calcification v1.69 GNA11 Zornitza Stark Marked gene: GNA11 as ready
Brain Calcification v1.69 GNA11 Zornitza Stark Gene: gna11 has been classified as Red List (Low Evidence).
Brain Calcification v1.69 GNA11 Zornitza Stark Classified gene: GNA11 as Red List (low evidence)
Brain Calcification v1.69 GNA11 Zornitza Stark Gene: gna11 has been classified as Red List (Low Evidence).
Brain Calcification v1.51 GNA11 Yetong Chen gene: GNA11 was added
gene: GNA11 was added to Brain Calcification. Sources: Expert list
Mode of inheritance for gene: GNA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNA11 were set to 27334330
Phenotypes for gene: GNA11 were set to Hypocalcemia, autosomal dominant 2, MIM# 615361
Review for gene: GNA11 was set to RED
Added comment: PMID 27334330 reports 4 patients with the same GNA11 variant (c.1018G>A), who are from the same family, developed intracranial calcifications.
Sources: Expert list