Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Skeletal Dysplasia_Fetal v0.171 | FIG4 | Zornitza Stark Marked gene: FIG4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal Dysplasia_Fetal v0.171 | FIG4 | Zornitza Stark Gene: fig4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal Dysplasia_Fetal v0.171 | FIG4 | Zornitza Stark Classified gene: FIG4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal Dysplasia_Fetal v0.171 | FIG4 | Zornitza Stark Gene: fig4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal Dysplasia_Fetal v0.163 | FIG4 |
Krithika Murali gene: FIG4 was added gene: FIG4 was added to Skeletal Dysplasia_Fetal. Sources: Literature Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FIG4 were set to 31094135; 24088667; 23623387 Phenotypes for gene: FIG4 were set to Yunis-Varon syndrome - MIM#216340 Review for gene: FIG4 was set to GREEN Added comment: Biallelic FIG4 variants are associated with an allelic disorder - Yunis-Varon syndrome - phenotypic skeletal dysplasia features include severe prenatal growth restriction, absent halluces and congenital fractures. Sources: Literature |