| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Fetal anomalies v0.3184 | SEPT9 | Zornitza Stark Marked gene: SEPT9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3184 | SEPT9 | Zornitza Stark Gene: sept9 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3184 | SEPT9 | Zornitza Stark Classified gene: SEPT9 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3184 | SEPT9 | Zornitza Stark Gene: sept9 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3183 | SEPT9 | Zornitza Stark reviewed gene: SEPT9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3151 | SEPT9 |
Krithika Murali gene: SEPT9 was added gene: SEPT9 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SEPT9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SEPT9 were set to 16186812; 19451530; 19939853; 19139049; 18492087 Phenotypes for gene: SEPT9 were set to Amyotrophy, hereditary neuralgic, MIM# 162100 Review for gene: SEPT9 was set to AMBER Added comment: No new relevant published evidence since last PanelApp review May 2021 -- Only one report identified from 2008 of dysmorphic features including cleft palate co-occurring with HNA. New gene name is SEPTIN9, also note founder variants as well as 5'UTR variants and intragenic duplications reported. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||