| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Multiple pterygium syndrome_Fetal akinesia sequence v0.54 | ADCY6 | Zornitza Stark Marked gene: ADCY6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple pterygium syndrome_Fetal akinesia sequence v0.54 | ADCY6 | Zornitza Stark Gene: adcy6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple pterygium syndrome_Fetal akinesia sequence v0.54 | ADCY6 | Zornitza Stark Phenotypes for gene: ADCY6 were changed from Lethal congenital contracture syndrome 8, MIM# 616287; MONDO:0014570 to Lethal congenital contracture syndrome 8, MIM# 616287; MONDO:0014570 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple pterygium syndrome_Fetal akinesia sequence v0.53 | ADCY6 | Zornitza Stark Phenotypes for gene: ADCY6 were changed from Lethal congenital contracture syndrome 8, MIM# 616287 to Lethal congenital contracture syndrome 8, MIM# 616287; MONDO:0014570 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple pterygium syndrome_Fetal akinesia sequence v0.52 | ADCY6 | Zornitza Stark Classified gene: ADCY6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple pterygium syndrome_Fetal akinesia sequence v0.52 | ADCY6 | Zornitza Stark Gene: adcy6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple pterygium syndrome_Fetal akinesia sequence v0.51 | ADCY6 |
Zornitza Stark gene: ADCY6 was added gene: ADCY6 was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Literature Mode of inheritance for gene: ADCY6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADCY6 were set to 24319099; 26257172; 31846058 Phenotypes for gene: ADCY6 were set to Lethal congenital contracture syndrome 8, MIM# 616287 Review for gene: ADCY6 was set to GREEN Added comment: Three unrelated families and supportive data from a zebrafish model. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||