| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cerebral Palsy v1.239 | SLC1A2 | Zornitza Stark Marked gene: SLC1A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.239 | SLC1A2 | Zornitza Stark Gene: slc1a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.239 | SLC1A2 | Zornitza Stark Classified gene: SLC1A2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.239 | SLC1A2 | Zornitza Stark Gene: slc1a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.194 | SLC1A2 |
Clare van Eyk gene: SLC1A2 was added gene: SLC1A2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SLC1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC1A2 were set to PMID: 38693247; PMID:33528536 Phenotypes for gene: SLC1A2 were set to Developmental and epileptic encephalopathy 41, MIM#617105 Review for gene: SLC1A2 was set to AMBER Added comment: 1 individual with mono-allelic stopgain variant reported in large-scale exome sequencing study (PMID: 38693247). 1 individual with mono-allelic de novo missense variant reported in large retrospective analysis of WES data from a clinical laboratory referral cohort and healthcare cohort (PMID:33528536). Sources: Literature |
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