| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cerebral Palsy v1.56 | CTNNA2 | Zornitza Stark Marked gene: CTNNA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.56 | CTNNA2 | Zornitza Stark Gene: ctnna2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.56 | CTNNA2 | Zornitza Stark Classified gene: CTNNA2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.56 | CTNNA2 | Zornitza Stark Gene: ctnna2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.36 | CTNNA2 |
Luisa Weiss gene: CTNNA2 was added gene: CTNNA2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: CTNNA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTNNA2 were set to 30013181 Phenotypes for gene: CTNNA2 were set to Cortical dysplasia, complex, with other brain malformations MIM#618174 Review for gene: CTNNA2 was set to GREEN Added comment: In 7 affected individuals of three consanguineous families a complex brain malformation syndrome with pachygyria, cortical gray matter thickening, hypogenesis of the corpus callosum, and cerebellar hypoplasia, neurodevelopmental delay, acquired microcephaly and seizures is described. All of the individuals are described as having hypotonic cerebral palsy and biallelic mutations in CTNNA2. Sources: Literature |
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