Childhood onset hereditary spastic paraplegia
Gene: VPS37A
Childhood onset. Two families with same mutation. No additional patients identified using Sheffield panel.Created: 10 May 2019, 11:10 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Red gene with Green GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.Created: 21 May 2019, 4:50 p.m.
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:54 p.m.
Red rating on Hereditary spastic paraplegia panel 1.198
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.
emma baple (Genomics England Curator), 10 May 2016. Submitted Red ratingCreated: 2 May 2019, 5:01 p.m.
9 affected members of 2 consanguineous Arab Moslem families with early-onset autosomal recessive spastic paraplegia-53, Haplotype analysis indicated a founder effect. In sheffield HSP panelCreated: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 53, autosomal recessive 614898, AR
Source Expert Review Amber was added to VPS37A. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Publications for gene: VPS37A were set to Zivony-Elboum et al. (2012)
Phenotypes for gene: VPS37A were changed from Spastic paraplegia 53, autosomal recessive to Spastic paraplegia 53, 614898, AR
Source Yorkshire and North East GLH was added to VPS37A.
Gene: vps37a has been classified as Red List (Low Evidence).
Gene: vps37a has been classified as Green List (High Evidence).
Source NHS GMS was added to VPS37A.
Source London North GLH was added to VPS37A.
Added phenotypes Spastic paraplegia 53, autosomal recessive for gene: VPS37A
Rebecca Foulger: Comment on list classification
gene: VPS37A was added gene: VPS37A was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red Mode of inheritance for gene: VPS37A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS37A were set to Zivony-Elboum et al. (2012) Phenotypes for gene: VPS37A were set to Spastic paraplegia 53, autosomal recessive