Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Skeletal Dysplasia_Fetal v0.155 EXTL3 Zornitza Stark Marked gene: EXTL3 as ready
Skeletal Dysplasia_Fetal v0.155 EXTL3 Zornitza Stark Gene: extl3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.155 EXTL3 Zornitza Stark Classified gene: EXTL3 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.155 EXTL3 Zornitza Stark Gene: extl3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.154 EXTL3 Krithika Murali gene: EXTL3 was added
gene: EXTL3 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXTL3 were set to PMID: 28132690
Phenotypes for gene: EXTL3 were set to Immunoskeletal dysplasia with neurodevelopmental abnormalities - MIM#617425
Review for gene: EXTL3 was set to GREEN
Added comment: Disproportionate short stature with limb shortening and death in the neonatal period reported.
Sources: Literature