Adult onset neurodegenerative disorder
Gene: VAPB
Adult onset ALS - >3 cases: mostly V65S variantCreated: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Amyotrophic lateral sclerosis 8, 608627; Amyotrophic Lateral Sclerosis, Dominant
Mode of pathogenicity
Other - please provide details in the comments
Age of onset from third to sixth decade of lifeCreated: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Amyotrophic lateral sclerosis 8, 608627; Amyotrophic Lateral Sclerosis, Dominant
Publications
Variants in this GENE are reported as part of current diagnostic practice
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 5:35 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: VAPB were changed from Amyotrophic lateral sclerosis 8, 608627; Amyotrophic Lateral Sclerosis, Dominant to Amyotrophic lateral sclerosis 8, OMIM:608627
Source Wessex and West Midlands GLH was added to VAPB.
Publications for gene VAPB were changed from to 18555774; 15372378
Source Yorkshire and North East GLH was added to VAPB.
Source NHS GMS was added to VAPB.
Source London North GLH was added to VAPB.
Louise Daugherty: Comment on phenotypes: amended
gene: VAPB was added gene: VAPB was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: VAPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: VAPB were set to Amyotrophic lateral sclerosis 8, 608627; Amyotrophic Lateral Sclerosis, Dominant