| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia - paediatric v0.140 | SPTBN2 | Zornitza Stark Marked gene: SPTBN2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.140 | SPTBN2 | Zornitza Stark Gene: sptbn2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.140 | SPTBN2 | Zornitza Stark Classified gene: SPTBN2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.140 | SPTBN2 | Zornitza Stark Gene: sptbn2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.139 | SPTBN2 |
Zornitza Stark gene: SPTBN2 was added gene: SPTBN2 was added to Ataxia - paediatric. Sources: Expert list Mode of inheritance for gene: SPTBN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SPTBN2 were set to 23236289; 23838597; 22781464; 31617442; 31066025 Phenotypes for gene: SPTBN2 were set to Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386; Spinocerebellar ataxia 5, MIM# 600224 Review for gene: SPTBN2 was set to GREEN Added comment: Both mono-allelic and bi-allelic variants in this gene are associated with childhood-onset ataxia. Sources: Expert list |
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