Amyotrophic lateral sclerosis/motor neuron disease
Gene: VAPB

VAPB (VAMP associated protein B and C)
EnsemblGeneIds (GRCh38): ENSG00000124164
EnsemblGeneIds (GRCh37): ENSG00000124164
OMIM: 605704, Gene2Phenotype
VAPB is in 4 panels

1 review

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from amber to green due to presence on the NHNN panel and more than 3 cases/families reported in OMIM. The 166C-T transition in exon 2 of the VAPB gene, leading to a pro56-to-ser (P56S) amino acid change may be a founder variant found in the Brazilian families, but it has also been identified in a Japanese patient and a different variant was found in a non-Brazilian male.
Created: 15 Jun 2016, 1:40 p.m.

This gene is on the ALS/MND NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.
Created: 13 Jun 2016, 9:17 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Created: 13 Jun 2016, 9:17 a.m.

Panel version: 0.46

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Amyotrophic Lateral Sclerosis, Dominant
Amyotrophic lateral sclerosis 8, 608627

OMIM

605704

Clinvar variants

Variants in VAPB

Penetrance

Complete

Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on 19th December 2016 following external review and internal curation

15 Jun 2016, Gel status: 4