| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cerebral Palsy v1.68 | CASK | Zornitza Stark Marked gene: CASK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.68 | CASK | Zornitza Stark Gene: cask has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.68 | CASK | Zornitza Stark Classified gene: CASK as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.68 | CASK | Zornitza Stark Gene: cask has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.36 | CASK |
Luisa Weiss gene: CASK was added gene: CASK was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: CASK were set to 33528536 Phenotypes for gene: CASK were set to Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749 Review for gene: CASK was set to GREEN Added comment: 4 individual cases in one large CP cohort study. 3 of them confirmed de novo nonsense mutations, one in-frame five AA deletion with unknown inheritance. All reported to be heterozygous in an X-linked gene and thus affecting females as known for the allelic disease ID with pontine and cerebellar hypoplasia. Sources: Literature |
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