Hereditary spastic paraplegia
Gene: VPS37A

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)

Gene to be reviewed again after the GMS Neurology specialist test group have reviewed and agreed rating of gene on the Hereditary spastic paraplegia - childhood onset panel on May 2019
Created: 3 May 2019, 9:15 a.m.

Created: 3 May 2019, 9:15 a.m.

Panel version: 1.203

emma baple (Genomics England Curator)

Comment when marking as ready: single founder Arab mutation further evidence required.
A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis.
Zivony-Elboum Y1, Westbroek W, Kfir N, Savitzki D, Shoval Y, Bloom A, Rod R, Khayat M, Gross B, Samri W, Cohen H, Sonkin V, Freidman T, Geiger D, Fattal-Valevski A, Anikster Y, Waters AM, Kleta R, Falik-Zaccai TC.
Created: 10 May 2016, 2:17 p.m.

Created: 10 May 2016, 2:17 p.m.

Panel version: 0.36

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Expert list
Radboud University Medical Center, Nijmegen

Phenotypes

Spastic paraplegia 53, autosomal recessive

OMIM

609927

Clinvar variants

Variants in VPS37A

Penetrance

Complete

Publications

Zivony-Elboum et al. (2012)

Panels with this gene

History Filter Activity

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

20 Jul 2015, Gel status: 1