Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Hereditary neuropathy NOT PMP22 copy number

Gene: VAPB

No list

VAPB (VAMP associated protein B and C)
EnsemblGeneIds (GRCh38): ENSG00000124164
EnsemblGeneIds (GRCh37): ENSG00000124164
OMIM: 605704, Gene2Phenotype
VAPB is in 5 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

p.P56S variant found in multiple families from different ethnicities but additional variant also reported; functional data.
Sources: Expert list
Created: 2 Apr 2020, 8:11 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Adult proximal spinal muscular atrophy, autosomal dominant; dHMN/dSMA; Spinal muscular atrophy, late-onset, Finkel type, MIM# 182980

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Adult proximal spinal muscular atrophy, autosomal dominant
  • dHMN/dSMA
  • Spinal muscular atrophy, late-onset, Finkel type, MIM# 182980
OMIM
605704
Clinvar variants
Variants in VAPB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: VAPB was added gene: VAPB was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Expert list Mode of inheritance for gene: VAPB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: VAPB were set to 15372378; 32162544; 28993872; 28173107; 26566915 Phenotypes for gene: VAPB were set to Adult proximal spinal muscular atrophy, autosomal dominant; dHMN/dSMA; Spinal muscular atrophy, late-onset, Finkel type, MIM# 182980 Review for gene: VAPB was set to GREEN