Hereditary spastic paraplegia - adult onset

Gene: VPS37A

Amber List (moderate evidence)

VPS37A (VPS37A, ESCRT-I subunit)
EnsemblGeneIds (GRCh38): ENSG00000155975
EnsemblGeneIds (GRCh37): ENSG00000155975
OMIM: 609927, Gene2Phenotype
VPS37A is in 8 panels

4 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Red List (low evidence)

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

Chris Buxton (North Bristol NHS Trust)

Red List (low evidence)

1 report HSP (Zivony-Elboum et al 2012). Subseqient report of hom vars in Idiopathic transverse myelitis.
Created: 27 Apr 2019, 4:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 53, autosomal recessive

Publications

  • Zivony-Elboum et al. (2012)

Louise Daugherty (Genomics England Curator)

I don't know

Green gene with Red 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, 4:14 p.m.
Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 4:50 p.m.
Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 27 Apr 2019, 4:30 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

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 panel
Created: 25 Apr 2019, 1:22 p.m.

Phenotypes
Spastic paraplegia 53, autosomal recessive, 614898, AR

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Yorkshire and North East GLH
  • South West GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • Spastic paraplegia 53, autosomal recessive
  • Spastic paraplegia 53, autosomal recessive, 614898, AR
OMIM
609927
Clinvar variants
Variants in VPS37A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 May 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to VPS37A. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

13 May 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: VPS37A were set to Zivony-Elboum et al. (2012)

13 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to VPS37A.

27 Apr 2019, Gel status: 4

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: VPS37A was changed from to BIALLELIC, autosomal or pseudoautosomal

27 Apr 2019, Gel status: 4

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Spastic paraplegia 53, autosomal recessive for gene: VPS37A Publications for gene VPS37A were changed from to Zivony-Elboum et al. (2012)

27 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to VPS37A.

25 Apr 2019, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to VPS37A. Added phenotypes Spastic paraplegia 53, autosomal recessive, 614898, AR for gene: VPS37A Rating Changed from Red List (low evidence) to Green List (high evidence)

24 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to VPS37A.

24 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 Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: VPS37A was set to