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| Cerebral Palsy v1.194 | SYNGAP1 | Clare van Eyk reviewed gene: SYNGAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Intellectual developmental disorder, autosomal dominant 5, MIM#612621; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.169 | SYNGAP1 | Zornitza Stark Marked gene: SYNGAP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.169 | SYNGAP1 | Zornitza Stark Gene: syngap1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.169 | SYNGAP1 | Zornitza Stark Classified gene: SYNGAP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.169 | SYNGAP1 | Zornitza Stark Gene: syngap1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.146 | SYNGAP1 |
Luisa Weiss gene: SYNGAP1 was added gene: SYNGAP1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SYNGAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SYNGAP1 were set to 33528536; 31700678 Phenotypes for gene: SYNGAP1 were set to Intellectual developmental disorder, autosomal dominant 5 MIM#612621 Review for gene: SYNGAP1 was set to GREEN Added comment: Moreno de Luca et al. found 3 heterozygous de novo SYNGAP1 mutations in a large CP cohort study. In addition, van Eyk et al. found one non-maternally inherited VUS in a child with CP in a cohort study. Sources: Literature |
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