Ataxia - paediatric
Gene: SVBPEnsemblGeneIds (GRCh38): ENSG00000177868
EnsemblGeneIds (GRCh37): ENSG00000177868
SVBP is in 4 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
Ataxia is a prominent feature of the phenotype for this condition.
Sources: Expert listCreated: 17 Jan 2020, 12:21 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, 618569
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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: LiteratureCreated: 13 Dec 2019, 10:18 p.m. | Last Modified: 13 Sep 2020, 6:58 a.m.
Panel Version: 0.257
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly; OMIM #618569
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Literature
- Phenotypes
-
- Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, 618569
- Tags
- Clinvar variants
- Variants in SVBP
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag founder tag was added to gene: SVBP.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: svbp has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SVBP were set to
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: svbp has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)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