Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Clefting disorders v0.156 SCUBE3 Zornitza Stark Marked gene: SCUBE3 as ready
Clefting disorders v0.156 SCUBE3 Zornitza Stark Gene: scube3 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.156 SCUBE3 Zornitza Stark Classified gene: SCUBE3 as Amber List (moderate evidence)
Clefting disorders v0.156 SCUBE3 Zornitza Stark Gene: scube3 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.155 SCUBE3 Zornitza Stark gene: SCUBE3 was added
gene: SCUBE3 was added to Clefting disorders. Sources: Expert Review
Mode of inheritance for gene: SCUBE3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCUBE3 were set to 33308444
Phenotypes for gene: SCUBE3 were set to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, MIM# 619184
Review for gene: SCUBE3 was set to AMBER
Added comment: Eighteen affected individuals from nine unrelated families reported with a consistent phenotype characterised by reduced growth, skeletal features, distinctive craniofacial appearance, and dental anomalies. Mouse model recapitulated phenotype.

Clefting reported in 3 individuals.
Sources: Expert Review