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| Ataxia - paediatric v0.257 | SVBP | Zornitza Stark Tag founder tag was added to gene: SVBP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.257 | SVBP |
Zornitza Stark changed review comment from: 5 unrelated families with homozygous mutations in SVBP; syndromic cause of paediatric ataxia. The mutations segregated with the disorder in all families. In vitro functional cellular expression studies showed that protein levels of the SVBP mutants were barely detectable, suggesting instability, and that the mutant proteins had lost VASH/SVBP catalytic detyrosination activity toward tubulin. Knockdown of about 50% Svbp expression using shRNA in rat hippocampal neurons impaired the formation of excitatory synapses compared to controls. Sources: Literature; to: 5 unrelated families with homozygous mutations in SVBP; syndromic cause of paediatric ataxia. Some shared the same founder variant, p.Q28*. The mutations segregated with the disorder in all families. In vitro functional cellular expression studies showed that protein levels of the SVBP mutants were barely detectable, suggesting instability, and that the mutant proteins had lost VASH/SVBP catalytic detyrosination activity toward tubulin. Knockdown of about 50% Svbp expression using shRNA in rat hippocampal neurons impaired the formation of excitatory synapses compared to controls. Sources: Literature |
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| Ataxia - paediatric v0.186 | SVBP | Zornitza Stark Marked gene: SVBP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.186 | SVBP | Zornitza Stark Gene: svbp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.186 | SVBP | Zornitza Stark Publications for gene: SVBP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.40 | SVBP | Bryony Thompson Classified gene: SVBP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.40 | SVBP | Bryony Thompson Gene: svbp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.39 | SVBP |
Bryony Thompson gene: SVBP was added gene: SVBP was added to Ataxia - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: SVBP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SVBP were set to Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, 618569 Review for gene: SVBP was set to GREEN Added comment: Ataxia is a prominent feature of the phenotype for this condition. Sources: Expert list |
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