Activity
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5 actions
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Cerebral Palsy v0.188 | STXBP1 | Zornitza Stark Marked gene: STXBP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v0.188 | STXBP1 | Zornitza Stark Gene: stxbp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v0.188 | STXBP1 | Zornitza Stark Classified gene: STXBP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v0.188 | STXBP1 | Zornitza Stark Gene: stxbp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v0.187 | STXBP1 |
Zornitza Stark gene: STXBP1 was added gene: STXBP1 was added to Cerebral Palsy. Sources: Expert Review Mode of inheritance for gene: STXBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: STXBP1 were set to 29761117 Phenotypes for gene: STXBP1 were set to Developmental and epileptic encephalopathy 4, MIM# 612164 Review for gene: STXBP1 was set to GREEN Added comment: ID and seizures, though spastic quadriplegia reported, and variants identified as part of CP cohorts. Sources: Expert Review |