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  3. VAPB
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Early-onset Dementia

Gene: VAPB

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Dementia and cognitive decline are not prominent features of the conditions caused by this gene. Mild executive dysfunction and behavioural changes have been reported in cases with ALS8.
Created: 6 Feb 2020, 7:17 a.m. | Last Modified: 6 Feb 2020, 7:17 a.m.
Panel Version: 0.14

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Amyotrophic lateral sclerosis 8 MIM#608627; Spinal muscular atrophy, late-onset, Finkel type MIM#182980

Publications

Created: 6 Feb 2020, 7:17 a.m.
Last Modified: 6 Feb 2020, 7:17 a.m.
Panel version: 0.14

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Amyotrophic lateral sclerosis 8 MIM#608627
  • Spinal muscular atrophy, late-onset, Finkel type MIM#182980
OMIM
605704
Clinvar variants
Variants in VAPB
Penetrance
None
Panels with this gene

History Filter Activity

6 Feb 2020, Gel status: 1

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: VAPB were changed from to Amyotrophic lateral sclerosis 8 MIM#608627; Spinal muscular atrophy, late-onset, Finkel type MIM#182980

6 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: vapb has been classified as Red List (Low Evidence).

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 Early-onset Dementia_MGHA_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