| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Fetal anomalies v0.1584 | FGD1 | Zornitza Stark Phenotypes for gene: FGD1 were changed from AARSKOG-SCOTT SYNDROME to Aarskog-Scott syndrome, MIM # 305400; Mental retardation, X-linked syndromic 16, MIM# 305400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1582 | FGD1 |
Zornitza Stark changed review comment from: Aarskog-Scott syndrome is characterised by short stature, hypertelorism, shawl scrotum, brachydactyly, joint hyperextensibility, short nose, widow's peak, and inguinal hernia. Most patients do not have intellectual disability, but some may have neurobehavioral features. Carrier females may present with subtle features, such as widow's peak or short stature. Numerous cases reported with variants in FGD1 gene with replication over time.; to: Aarskog-Scott syndrome is characterised by short stature, hypertelorism, shawl scrotum, brachydactyly, joint hyperextensibility, short nose, widow's peak, and inguinal hernia. Most patients do not have intellectual disability, but some may have neurobehavioral features. Carrier females may present with subtle features, such as widow's peak or short stature. Cleft lip/palate reported. Numerous cases reported with variants in FGD1 gene with replication over time. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.763 | AARS | Zornitza Stark Tag new gene name tag was added to gene: AARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.763 | AARS | Zornitza Stark Marked gene: AARS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.763 | AARS | Zornitza Stark Gene: aars has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.763 | AARS | Zornitza Stark Publications for gene: AARS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.762 | AARS | Zornitza Stark Classified gene: AARS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.762 | AARS | Zornitza Stark Gene: aars has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | AARS |
Zornitza Stark gene: AARS was added gene: AARS was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: AARS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AARS were set to Developmental and epileptic encephalopathy 29, OMIM:616339; Developmental and epileptic encephalopathy, 29, MONDO:0014593 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | FGD1 |
Zornitza Stark gene: FGD1 was added gene: FGD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: FGD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FGD1 were set to AARSKOG-SCOTT SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||