Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Cerebral Palsy v1.380 | KIF5C | Zornitza Stark Marked gene: KIF5C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v1.380 | KIF5C | Zornitza Stark Gene: kif5c has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v1.380 | KIF5C | Zornitza Stark Classified gene: KIF5C as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v1.380 | KIF5C | Zornitza Stark Gene: kif5c has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v1.367 | KIF5C |
Clare van Eyk gene: KIF5C was added gene: KIF5C was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: KIF5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF5C were set to PMID: 39213953 Phenotypes for gene: KIF5C were set to Cortical dysplasia, complex, with other brain malformations 2 MIM#615282 Review for gene: KIF5C was set to RED Added comment: Single individual with de novo missense variant reported in a monocentric cohort study (PMID: 39213953). Clinically spastic diplegia, DD, severe ID, epilepsy, polymicrogyria. Sources: Literature |