| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cerebral Palsy v1.308 | VPS13B | Zornitza Stark Marked gene: VPS13B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.308 | VPS13B | Zornitza Stark Gene: vps13b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.308 | VPS13B | Zornitza Stark Classified gene: VPS13B as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.308 | VPS13B | Zornitza Stark Gene: vps13b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.294 | VPS13B |
Clare van Eyk gene: VPS13B was added gene: VPS13B was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS13B were set to PMID: 38693247 Phenotypes for gene: VPS13B were set to Cohen syndrome, MIM#216550 Review for gene: VPS13B was set to RED Added comment: 2 individuals with biallelic LOF variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Sources: Literature |
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