Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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 |