Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Cerebral Palsy v1.236 | SMARCA4 | Zornitza Stark Marked gene: SMARCA4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v1.236 | SMARCA4 | Zornitza Stark Gene: smarca4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v1.236 | SMARCA4 | Zornitza Stark Classified gene: SMARCA4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v1.236 | SMARCA4 | Zornitza Stark Gene: smarca4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v1.194 | SMARCA4 |
Clare van Eyk gene: SMARCA4 was added gene: SMARCA4 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMARCA4 were set to PMID: 38693247 Phenotypes for gene: SMARCA4 were set to Coffin-Siris syndrome 4, MIM#614609 Review for gene: SMARCA4 was set to RED Added comment: 1 individual with mono-allelic splice variant reported in large-scale exome sequencing study (PMID: 38693247). No detailed clinical information provided. Sources: Literature |