| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cerebral Palsy v1.165 | ST3GAL5 | Zornitza Stark Marked gene: ST3GAL5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.165 | ST3GAL5 | Zornitza Stark Gene: st3gal5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.165 | ST3GAL5 | Zornitza Stark Classified gene: ST3GAL5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.165 | ST3GAL5 | Zornitza Stark Gene: st3gal5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.146 | ST3GAL5 |
Luisa Weiss gene: ST3GAL5 was added gene: ST3GAL5 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: ST3GAL5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ST3GAL5 were set to 34540776; 30185102; 25131622; 24026681 Phenotypes for gene: ST3GAL5 were set to Salt and pepper developmental regression syndrome MIM#609056 Review for gene: ST3GAL5 was set to GREEN Added comment: Several reports on patients with different forms of CP (dystonic, quadriplegic or spastic) later found to harbor biallelic ST3GAL5 mutations. One patient in a larger CP cohort (34540776) with a homozygous VUS, others with pathogenic mutations. Note that the patients which were presented with photographs all showed cutaneous abnormalities as well. Sources: Literature |
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