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| Cerebral Palsy v1.400 | SOX2 | Zornitza Stark Publications for gene: SOX2 were set to 38553553; 39736497 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.399 | SOX2 | Zornitza Stark Publications for gene: SOX2 were set to PMID: 38553553 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.398 | SOX2 | Zornitza Stark Classified gene: SOX2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.398 | SOX2 | Zornitza Stark Gene: sox2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.397 | SOX2 | Clare van Eyk edited their review of gene: SOX2: Added comment: Additional report of a 12 year old girl with a spastic and dystonic movement disorder diagnosed as CP and found to have a de novo loss of function variant in SOX2 (same child reported in both PMID: 39736497; https://doi.org/10.1186/s43042-025-00665-z). Notably, she did not have ocular symptoms.; Changed rating: AMBER; Changed publications: PMID: 38553553, PMID: 39736497 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.350 | SOX2 | Zornitza Stark Marked gene: SOX2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.350 | SOX2 | Zornitza Stark Gene: sox2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.350 | SOX2 | Zornitza Stark Classified gene: SOX2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.350 | SOX2 | Zornitza Stark Gene: sox2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.348 | SOX2 |
Clare van Eyk gene: SOX2 was added gene: SOX2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SOX2 were set to PMID: 38553553 Phenotypes for gene: SOX2 were set to Microphthalmia, syndromic 3; Optic nerve hypoplasia and abnormalities of the central nervous system, MIM#206900 Review for gene: SOX2 was set to RED Added comment: Single individual with de novo frameshift deletion described in WGS study of clinically confirmed CP (PMID: 38553553). SOX2 disorders are associated with a spectrum of phenotypes which frequently include psychomotor delay, hypotonia, dystonia (including status dystonicus), spastic diplegia/quadriplegia. Sources: Literature |
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