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Severe microcephaly

Gene: SVBP

Amber List (moderate evidence)

SVBP (small vasohibin binding protein)
EnsemblGeneIds (GRCh38): ENSG00000177868
EnsemblGeneIds (GRCh37): ENSG00000177868
SVBP is in 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is sufficient evidence to rate this gene Green at the next GMS panel update (added 'for-review' tag).

12 individuals from 5 independent families (PMIDs: 31363758 and 30607023). Phenotypes include severe microcephaly in >3 families. SVBP is associated with a relevant phenotype in OMIM.
Created: 4 Dec 2020, 12:45 p.m. | Last Modified: 4 Dec 2020, 12:45 p.m.
Panel Version: 2.48

Zornitza Stark (Australian Genomics)

Green List (high evidence)

5 unrelated families with homozygous mutations in SVBP, microcephaly is part of the phenotype. 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: 3 Sep 2020, 9:03 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 Amber
Phenotypes
  • Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, OMIM:618569
  • Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, MONDO:0032816
Tags
for-review
Clinvar variants
Variants in SVBP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Dec 2020, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SVBP were changed from Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, OMIM #618569 to Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, OMIM:618569; Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, MONDO:0032816

4 Dec 2020, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: SVBP.

4 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: svbp has been classified as Amber List (Moderate Evidence).

3 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: SVBP was added gene: SVBP was added to Severe microcephaly. 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