| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.2712 | SHROOM4 | Zornitza Stark Marked gene: SHROOM4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2712 | SHROOM4 | Zornitza Stark Gene: shroom4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1809 | SHROOM4 | Alison Yeung Classified gene: SHROOM4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1809 | SHROOM4 | Alison Yeung Gene: shroom4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1808 | SHROOM4 |
Alison Yeung gene: SHROOM4 was added gene: SHROOM4 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: SHROOM4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SHROOM4 were set to 35663265 Phenotypes for gene: SHROOM4 were set to epilepsy, idiopathic generalised, SHROOM4-related, MONDO:0005579 Review for gene: SHROOM4 was set to GREEN Added comment: Six unrelated cases with idiopathic epilepsy without intellectual disability. SHROOM4 variants were all missense variants and were located around the N-terminal PDZ domain and the C-terminal ASD2 domain Sources: Literature |
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