1. Panels
  2. Adult onset dystonia, chorea or related movement disorder
  3. VPS37A
Genes in panel
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Adult onset dystonia, chorea or related movement disorder

Gene: VPS37A

Red List (low evidence)
VPS37A (VPS37A, ESCRT-I subunit)
EnsemblGeneIds (GRCh38): ENSG00000155975
EnsemblGeneIds (GRCh37): ENSG00000155975
OMIM: 609927, Gene2Phenotype
VPS37A is in 7 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED
Created: 19 Jun 2019, 4:50 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 12:18 p.m.
Created: 23 Apr 2019, 12:18 p.m.

Panel version: 0.88

Emily Jones (North Bristol NHS Trust)

Red List (low evidence)

PMID 22717650 describes two families. 2/9 family members had dystonia but was not predominant feature
Created: 23 Apr 2019, 12:14 p.m.

Phenotypes
Spastic paraplegia 53, autosomal recessive, 614898

Publications

Created: 23 Apr 2019, 12:14 p.m.

Panel version: 0.49

History Filter Activity

23 Apr 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Spastic paraplegia 53, autosomal recessive, 614898 for gene: VPS37A Publications for gene VPS37A were changed from to 22717650

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to VPS37A.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to VPS37A.

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: VPS37A was added gene: VPS37A was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: VPS37A was set to Phenotypes for gene: VPS37A were set to Dystonia