Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Hydrops fetalis v0.177 | FRAS1 | Zornitza Stark Marked gene: FRAS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hydrops fetalis v0.177 | FRAS1 | Zornitza Stark Gene: fras1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hydrops fetalis v0.177 | FRAS1 | Zornitza Stark Classified gene: FRAS1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hydrops fetalis v0.177 | FRAS1 | Zornitza Stark Gene: fras1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hydrops fetalis v0.176 | FRAS1 |
Zornitza Stark gene: FRAS1 was added gene: FRAS1 was added to Hydrops fetalis. Sources: Expert list Mode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FRAS1 were set to 27859469 Phenotypes for gene: FRAS1 were set to Fraser syndrome 1, MIM# 219000 Review for gene: FRAS1 was set to AMBER Added comment: In a series of 38 antenatally ascertained cases, 9 had hydrops. However, 11/38 had molecular testing, and only 8 had molecularly confirmed diagnosis (FRAS1 variants, none in FREM2 or GRIP1). Sources: Expert list |