| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Genetic Epilepsy v0.972 | PIGV | Zornitza Stark Marked gene: PIGV as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.972 | PIGV | Zornitza Stark Gene: pigv has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.972 | PIGV | Zornitza Stark Classified gene: PIGV as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.972 | PIGV | Zornitza Stark Gene: pigv has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.971 | PIGV |
Zornitza Stark gene: PIGV was added gene: PIGV was added to Genetic Epilepsy. Sources: Expert Review Mode of inheritance for gene: PIGV was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGV were set to 20802478; 22315194; 28817240; 24129430 Phenotypes for gene: PIGV were set to Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398 Review for gene: PIGV was set to GREEN Added comment: Bi-allelic variants in this gene are associated with intellectual disability, seizures, hypotonia, and hyperphosphatasia. Other features include facial dysmorphism, variable degrees of brachytelephalangy and congenital anomalies. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||