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Motor Neurone Disease

Gene: VAPB

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

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

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 type
Created: 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

Created: 18 May 2023, 6:22 a.m.
Last Modified: 18 May 2023, 6:22 a.m.
Panel version: 0.138

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinal muscular atrophy, late-onset, Finkel type (MIM# 182980)
  • Amyotrophic lateral sclerosis 8
Tags
founder
OMIM
605704
Clinvar variants
Variants in VAPB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 May 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vapb has been classified as Green List (High Evidence).

19 May 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: VAPB were changed from to Spinal muscular atrophy, late-onset, Finkel type (MIM# 182980); Amyotrophic lateral sclerosis 8

19 May 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: VAPB were set to

19 May 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: VAPB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

19 May 2023, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag founder tag was added to gene: VAPB.

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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