Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Skeletal dysplasia v0.304 MEG3 Zornitza Stark Marked gene: MEG3 as ready
Skeletal dysplasia v0.304 MEG3 Zornitza Stark Gene: meg3 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.304 MEG3 Zornitza Stark Classified gene: MEG3 as Green List (high evidence)
Skeletal dysplasia v0.304 MEG3 Zornitza Stark Gene: meg3 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.303 MEG3 Zornitza Stark gene: MEG3 was added
gene: MEG3 was added to Skeletal dysplasia. Sources: Expert list
SV/CNV, non-coding gene tags were added to gene: MEG3.
Mode of inheritance for gene: MEG3 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: MEG3 were set to 33010492; 33746039; 33067531; 38212313
Phenotypes for gene: MEG3 were set to Kagami-Ogata syndrome, MIM# 608149
Review for gene: MEG3 was set to GREEN
Added comment: Small deletions of MAG3 reported in multiple patients as one of the mechanisms of disease. Bell-shaped thorax and multiple other skeletal anomalies are a feature.
Sources: Expert list