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Intellectual disability

Gene: SVBP

Green List (high evidence)

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

8 reviews

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating to Green to match Green review by Catherine Snow. Phenotypes include global DD and intellectual disability in >3 families.
Created: 28 Nov 2019, 10:34 p.m. | Last Modified: 28 Nov 2019, 10:34 p.m.
Panel Version: 2.1132

Catherine Snow (Genomics England)

Green List (high evidence)

SVBP has been identified by Alistair Pagnamenta who has reviewed (PMID: 31363758; 30607023). SVBP is in OMIM and sufficient number of unrelated individuals identified to rate SVBP as Green
Created: 26 Nov 2019, 3:11 p.m. | Last Modified: 26 Nov 2019, 3:11 p.m.
Panel Version: 2.1117

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Alistair Pagnamenta (University of Oxford)

Green List (high evidence)

Homozygous stop-gain or frameshifting variants have now been reported in a total of 12 individuals from 5 independent families (PMID: 31363758; 30607023). Functional studies confirmed effect of variants on tubulin detyrosination and a mouse model replicates some if not all features. Notably, the p.(Q28*) allele crops up in 4 out of the 5 families.
Created: 25 Oct 2019, 2:09 p.m. | Last Modified: 25 Oct 2019, 2:09 p.m.
Panel Version: 2.1092

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
brain abnormalities; microcephaly; intellectual disability; delayed gross motor development; spasticity; delayed speech development

Publications

Olivia Niblock (Genomics England Curator)

Red List (low evidence)

Unable to find any literature evidence or evidence from the four sources to suggest a link between variants in this gene and Intellectual Disability.
Created: 22 Feb 2018, 2:16 p.m.

Mode of inheritance
Unknown

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Gene name changed from CCDC23 to SVBP. Not associated with phenotype in OMIM or G2P. Reported as a candidate gene in PMID 26350204
Created: 15 Dec 2017, 9:38 a.m.

Mode of inheritance
Unknown

Publications

Caroline Wright (Sanger)

Red List (low evidence)

Louise Daugherty (Genomics England Curator)

added new-gene-name tag. New HGNC approved gene symbol SVBP
Created: 13 Jun 2017, 11:08 a.m.

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, 618569
Clinvar variants
Variants in SVBP
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

26 Nov 2019, Gel status: 1

Set Phenotypes

Catherine Snow (Genomics England)

Phenotypes for gene: SVBP were changed from Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, 618569 to Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, 618569

26 Nov 2019, Gel status: 1

Set mode of inheritance

Catherine Snow (Genomics England)

Mode of inheritance for gene: SVBP was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

26 Nov 2019, Gel status: 1

Set Phenotypes

Catherine Snow (Genomics England)

Phenotypes for gene: SVBP were changed from Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, 618569 to Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, 618569

26 Nov 2019, Gel status: 1

Set publications

Catherine Snow (Genomics England)

Publications for gene: SVBP were set to 26350204; 31363758; 30607023

26 Nov 2019, Gel status: 1

Set Phenotypes

Catherine Snow (Genomics England)

Phenotypes for gene: SVBP were changed from to Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, 618569

26 Nov 2019, Gel status: 1

Set publications

Catherine Snow (Genomics England)

Publications for gene: SVBP were set to 26350204

26 Nov 2019, Gel status: 1

Set mode of inheritance

Catherine Snow (Genomics England)

Mode of inheritance for gene: SVBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

5 Jan 2018, Gel status: 1

Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SVBP was set to Unknown Publications for gene SVBP was set to ['26350204']

5 Nov 2017, Gel status: 1

Changed Gene Name

GEL ()

CCDC23 was changed to SVBP

5 Nov 2017, Gel status: 1

Removed Tag

GEL ()

new-gene-name was removed from CCDC23. Panel: Intellectual disability

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CCDC23 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CCDC23 was added to Intellectual disabilitypanel. Sources: Expert Review Red