| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cerebral Palsy v1.387 | TBCK | Zornitza Stark Marked gene: TBCK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.387 | TBCK | Zornitza Stark Gene: tbck has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.387 | TBCK | Zornitza Stark Classified gene: TBCK as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.387 | TBCK | Zornitza Stark Gene: tbck has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.367 | TBCK |
Clare van Eyk gene: TBCK was added gene: TBCK was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: TBCK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBCK were set to PMID: 39213953 Phenotypes for gene: TBCK were set to Hypotonia, infantiale with psychomotor retardation and characteristic facies 3, MIM#616900 Review for gene: TBCK was set to RED Added comment: Single individual with biallelic variants in TBCK reported in a monocentric cohort study (PMID: 39213953). Clinically, hypotonic CP, DD, muscle weakness, hyperlaxicity, epilepsy. Sources: Literature |
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