| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v0.4445 | ROGDI | Zornitza Stark Marked gene: ROGDI as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4445 | ROGDI | Zornitza Stark Gene: rogdi has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4445 | ROGDI | Zornitza Stark Phenotypes for gene: ROGDI were changed from KOHLSCHAYTTER-TANZ SYNDROME to Kohlschutter-Tonz syndrome, MIM# 226750 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4444 | ROGDI | Zornitza Stark Publications for gene: ROGDI were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4443 | ROGDI |
Zornitza Stark changed review comment from: Kohlschutter-Tonz syndrome (KTZS) is an autosomal recessive disorder characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta affecting both primary and secondary teeth and causing yellow or brown discolouration of the teeth. More than 10 families reported.; to: Kohlschutter-Tonz syndrome (KTZS) is an autosomal recessive disorder characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta affecting both primary and secondary teeth and causing yellow or brown discolouration of the teeth. More than 10 families reported. Cerebellar hypoplasia and ventriculomegaly described. |
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| Fetal anomalies v0.0 | ROGDI |
Zornitza Stark gene: ROGDI was added gene: ROGDI was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ROGDI was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ROGDI were set to KOHLSCHAYTTER-TANZ SYNDROME |
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