Motor Neurone Disease
Gene: VAPB
PMID: 20301623 - Founder variant p.Pro56Ser in Portuguese/Brazilian & African/Brazilian individuals with adult onset spinal muscular atrophy finkel type.
PMID: 15372378
Heterozygous missense mutation identified in 3 unrelated kindreds with Spinal muscular atrophy, late-onset, Finkel typeCreated: 18 May 2023, 6:22 a.m. | Last Modified: 18 May 2023, 6:22 a.m.
Panel Version: 0.138
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinal muscular atrophy, late-onset, Finkel type (MIM# 182980); Amyotrophic lateral sclerosis 8
Publications
Gene: vapb has been classified as Green List (High Evidence).
Phenotypes for gene: VAPB were changed from to Spinal muscular atrophy, late-onset, Finkel type (MIM# 182980); Amyotrophic lateral sclerosis 8
Publications for gene: VAPB were set to
Mode of inheritance for gene: VAPB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tag founder tag was added to gene: VAPB.
gene: VAPB was added gene: VAPB was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: VAPB was set to Unknown