| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Fetal anomalies v0.2257 | HUWE1 | Zornitza Stark Marked gene: HUWE1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2257 | HUWE1 | Zornitza Stark Gene: huwe1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2257 | HUWE1 | Zornitza Stark Phenotypes for gene: HUWE1 were changed from MENTAL RETARDATION SYNDROMIC X-LINKED TURNER TYPE to Mental retardation, X-linked syndromic, Turner type, MIM#309590 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2256 | HUWE1 | Zornitza Stark Mode of inheritance for gene: HUWE1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2255 | HUWE1 | Zornitza Stark changed review comment from: Females variably affected, ranging from asymptomatic carriers to fully manifesting the condition (particularly with de novo variants).; to: IUGR, joint contractures, microcephaly/macrocephaly are features. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | HUWE1 |
Zornitza Stark gene: HUWE1 was added gene: HUWE1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: HUWE1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: HUWE1 were set to MENTAL RETARDATION SYNDROMIC X-LINKED TURNER TYPE |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||