Ataxia and cerebellar anomalies - narrow panelGene: SVBP
5 families with homozygous mutations in SVBP; syndromic cause of paediatric ataxia. Some shared 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: Expert list
Created: 13 Sep 2020, 6:58 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, OMIM #618569
Variants in this GENE are reported as part of current diagnostic practice
gene: SVBP was added gene: SVBP was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: SVBP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SVBP were set to 31363758; 30607023 Phenotypes for gene: SVBP were set to Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, OMIM #618569 Review for gene: SVBP was set to GREEN gene: SVBP was marked as current diagnostic