1. Panels
  2. GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH
  3. VPS37A
STRs in panel
Prev Next
Regions in panel
Prev Next

GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH

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

1 review

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: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Created: 9 Jul 2019, 3:59 p.m.
Last Modified: 9 Jul 2019, 3:59 p.m.
Panel version: 0.10

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • South West GLH
Phenotypes
  • Spastic paraplegia 53, autosomal recessive, 614898
OMIM
609927
Clinvar variants
Variants in VPS37A
Penetrance
None
Panels with this gene

History Filter Activity

9 Jul 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene VPS37A was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 53, autosomal recessive, 614898 for gene: VPS37A

2 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to VPS37A.

2 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: VPS37A was added gene: VPS37A was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: VPS37A was set to