| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cerebral Palsy v1.369 | TSEN54 | Zornitza Stark Marked gene: TSEN54 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.369 | TSEN54 | Zornitza Stark Gene: tsen54 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.369 | TSEN54 | Zornitza Stark Classified gene: TSEN54 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.369 | TSEN54 | Zornitza Stark Gene: tsen54 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.367 | TSEN54 |
Clare van Eyk gene: TSEN54 was added gene: TSEN54 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSEN54 were set to PMID: 39213953 Phenotypes for gene: TSEN54 were set to Pontocerebellar hypoplasia type 2, MIM#277470 Review for gene: TSEN54 was set to RED Added comment: Two individuals with recurrent homozygous variant reported in a monocentric cohort study (PMID: 39213953). Not clear if they are related. One with spastic CP, DD, epilepsy, feeding difficulties, behavioral problems, vision problems, pontocerebellar atrophy. Other with spastic CP and axial hypotonia, peripheral hypertonia, DD, ID, cortical visual impairment, pontocerebellar atrophy. Sources: Literature |
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