| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cerebral Palsy v1.313 | SLC25A12 | Zornitza Stark Marked gene: SLC25A12 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.313 | SLC25A12 | Zornitza Stark Gene: slc25a12 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.313 | SLC25A12 | Zornitza Stark Classified gene: SLC25A12 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.313 | SLC25A12 | Zornitza Stark Gene: slc25a12 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.294 | SLC25A12 |
Clare van Eyk gene: SLC25A12 was added gene: SLC25A12 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SLC25A12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A12 were set to PMID: 31403263; PMID: 38693247 Phenotypes for gene: SLC25A12 were set to Developmental and epileptic encephalopathy 39, MIM#612949 Review for gene: SLC25A12 was set to RED Added comment: 1 patient with novel compound heterozygous variants reported with spastic quadriplegic cerebral palsy (PMID: 31403263). Additional individual reported with homozygous missense variant in large-scale exome sequencing study (PMID: 38693247), however detailed clinical information and functional support for pathogenicity were not supplied. Sources: Literature |
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