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| Cerebral Palsy v1.207 | SPTBN2 | Zornitza Stark Publications for gene: SPTBN2 were set to 31066025; 25981959; 31721007 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.194 | SPTBN2 | Clare van Eyk reviewed gene: SPTBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Spinocerebellar ataxia 5 MIM#600224, Spinocerebellar ataxia, autosomal recessive 14 MIM#615386; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.164 | SPTBN2 | Zornitza Stark Marked gene: SPTBN2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.164 | SPTBN2 | Zornitza Stark Gene: sptbn2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.164 | SPTBN2 | Zornitza Stark Classified gene: SPTBN2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.164 | SPTBN2 | Zornitza Stark Gene: sptbn2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.146 | SPTBN2 | Luisa Weiss reviewed gene: SPTBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31066025, 25981959, 31721007; Phenotypes: Spinocerebellar ataxia 5 MIM#600224, Spinocerebellar ataxia, autosomal recessive 14 MIM#615386; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.146 | SPTBN2 | Luisa Weiss Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.146 | SPTBN2 |
Luisa Weiss gene: SPTBN2 was added gene: SPTBN2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SPTBN2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: SPTBN2 were set to 31066025; 25981959; 31721007 Phenotypes for gene: SPTBN2 were set to Spinocerebellar ataxia 5 MIM#600224; Spinocerebellar ataxia, autosomal recessive 14 MIM#615386 Added comment: 5 patients presented in an overview study with ataxic CP and heterozygous (4/5) or biallelic SPTBN2 (1/5) mutations. In addition, one more case report and another case in a larger CP cohort study, all children presenting with ataxic CP. Note both heterozygous and biallelic mutations have been reported to cause ataxic CP in children, even though heterozygous mutations have previously been associated with adult onset spinocerebellar ataxia. Sources: Literature |
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