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  3. VPS37A
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Dystonia - complex

Gene: VPS37A

Red List (low evidence)
VPS37A (VPS37A, ESCRT-I subunit)
EnsemblGeneIds (GRCh38): ENSG00000155975
EnsemblGeneIds (GRCh37): ENSG00000155975
OMIM: 609927, Gene2Phenotype
VPS37A is in 6 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Single consanguineous Arab Moslem kindred with dystonia as a feature of the condition.
Sources: Expert list
Created: 6 Apr 2020, 9:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 53, autosomal recessive MIM#614898

Publications

Created: 6 Apr 2020, 9:25 a.m.

Panel version: 0.55

Details

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

History Filter Activity

6 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vps37a has been classified as Red List (Low Evidence).

6 Apr 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: VPS37A was added gene: VPS37A was added to Dystonia - complex. Sources: Expert list Mode of inheritance for gene: VPS37A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS37A were set to 22717650 Phenotypes for gene: VPS37A were set to Spastic paraplegia 53, autosomal recessive MIM#614898 Review for gene: VPS37A was set to RED