Amyotrophic lateral sclerosis/motor neuron disease
Gene: VAPBComment 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
Promoted to version 1 on 19th December 2016 following external review and internal curation
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene VAPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
VAPB was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Radboud University Medical Center, Nijmegen
Model of inheritance for gene VAPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
VAPB was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene VAPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
VAPB was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Radboud University Medical Center, Nijmegen
VAPB was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen