Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Skeletal dysplasia v0.131 BGN Zornitza Stark Marked gene: BGN as ready
Skeletal dysplasia v0.131 BGN Zornitza Stark Gene: bgn has been classified as Green List (High Evidence).
Skeletal dysplasia v0.131 BGN Zornitza Stark Classified gene: BGN as Green List (high evidence)
Skeletal dysplasia v0.131 BGN Zornitza Stark Gene: bgn has been classified as Green List (High Evidence).
Skeletal dysplasia v0.129 BGN Krithika Murali gene: BGN was added
gene: BGN was added to Skeletal dysplasia. Sources: Expert list,Literature
Mode of inheritance for gene: BGN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: BGN were set to 27236923
Phenotypes for gene: BGN were set to Spondyloepimetaphyseal dysplasia, X-linked - MIM# 300106
Review for gene: BGN was set to GREEN
Added comment: Well-established gene-disease associated with X-linked spondyloepimetaphyseal dysplasia (SEMD)
Sources: Expert list, Literature