| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.2062 | GPSM2 | Zornitza Stark Marked gene: GPSM2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2062 | GPSM2 | Zornitza Stark Gene: gpsm2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2062 | GPSM2 | Zornitza Stark Classified gene: GPSM2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2062 | GPSM2 | Zornitza Stark Gene: gpsm2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2061 | GPSM2 |
Zornitza Stark gene: GPSM2 was added gene: GPSM2 was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: GPSM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPSM2 were set to 20602914; 22578326; 28387217; 27180139; 27064331 Phenotypes for gene: GPSM2 were set to Chudley-McCullough syndrome, MIM# 604213 Review for gene: GPSM2 was set to AMBER Added comment: Chudley-McCullough syndrome is an autosomal recessive neurologic disorder characterized by early-onset sensorineural deafness and specific brain anomalies on MRI, including hypoplasia of the corpus callosum, enlarged cysterna magna with mild focal cerebellar dysplasia, and nodular heterotopia/PMG. Some individuals have hydrocephalus. Development is generally normal. Over 10 families reported, supportive functional data. Seizures reported but rare. Sources: Expert list |
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