Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Fetal anomalies v0.2244 | HDAC8 | Zornitza Stark Marked gene: HDAC8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.2244 | HDAC8 | Zornitza Stark Gene: hdac8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.2244 | HDAC8 | Zornitza Stark Phenotypes for gene: HDAC8 were changed from WILSON-TURNER SYNDROME; CORNELIA DE LANGE-LIKE SYNDROME to Cornelia de Lange syndrome 5, MIM# 300882 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.2243 | HDAC8 | Zornitza Stark Publications for gene: HDAC8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.2242 | HDAC8 | Zornitza Stark edited their review of gene: HDAC8: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.2242 | HDAC8 | Zornitza Stark changed review comment from: In a recent series of 246 individuals from diverse populations, congenital diaphragmatic hernia was not a common feature of HDAC8-related CdL.; to: Multiple congenital anomalies are a feature. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.0 | HDAC8 |
Zornitza Stark gene: HDAC8 was added gene: HDAC8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: HDAC8 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: HDAC8 were set to WILSON-TURNER SYNDROME; CORNELIA DE LANGE-LIKE SYNDROME |