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Intellectual disability syndromic and non-syndromic

Gene: SVBP

Green List (high evidence)

SVBP (small vasohibin binding protein)
EnsemblGeneIds (GRCh38): ENSG00000177868
EnsemblGeneIds (GRCh37): ENSG00000177868
SVBP is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Some shared the same founder variant, p.Q28*
Created: 13 Sep 2020, 7:01 a.m. | Last Modified: 13 Sep 2020, 7:01 a.m.
Panel Version: 0.3007

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, OMIM #618569

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

5 unrelated families with homozygous mutations in SVBP. 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
Created: 11 Dec 2019, 4:01 a.m.

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
  • Literature
Phenotypes
  • Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly
  • OMIM #618569
Tags
founder
Clinvar variants
Variants in SVBP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Sep 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag founder tag was added to gene: SVBP.

14 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: svbp has been classified as Green List (High Evidence).

11 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: svbp has been classified as Green List (High Evidence).

11 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Chirag Patel (Genetic Health Queensland)

gene: SVBP was added gene: SVBP was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature Mode of inheritance for gene: SVBP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SVBP were set to PMID: 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