Adult 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
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
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.
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: 25 Apr 2019, 1:22 p.m.
Phenotypes
Spastic paraplegia 53, autosomal recessive, 614898, AR
Source Expert Review Amber was added to VPS37A. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Publications for gene: VPS37A were set to Zivony-Elboum et al. (2012)
Source Yorkshire and North East GLH was added to VPS37A.
Mode of inheritance for gene: VPS37A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 53, autosomal recessive for gene: VPS37A Publications for gene VPS37A were changed from to Zivony-Elboum et al. (2012)
Source South West GLH was added to VPS37A.
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)
Source NHS GMS was added to VPS37A.
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