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Childhood onset hereditary spastic paraplegia v1.166 VPS37A Louise Daugherty commented on gene: VPS37A: 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.
Childhood onset hereditary spastic paraplegia v1.165 VPS37A Louise Daugherty Source Expert Review Amber was added to VPS37A.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.164 VPS37A Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.99 VPS37A Louise Daugherty Publications for gene: VPS37A were set to Zivony-Elboum et al. (2012)
Childhood onset hereditary spastic paraplegia v1.98 VPS37A Louise Daugherty Phenotypes for gene: VPS37A were changed from Spastic paraplegia 53, autosomal recessive to Spastic paraplegia 53, 614898, AR
Childhood onset hereditary spastic paraplegia v1.75 VPS37A Louise Daugherty Source Yorkshire and North East GLH was added to VPS37A.
Childhood onset hereditary spastic paraplegia v1.74 VPS37A Nick Beauchamp reviewed gene: VPS37A: Rating: RED; Mode of pathogenicity: None; Publications: 22717650; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 VPS37A Louise Daugherty commented on gene: VPS37A: 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.
Childhood onset hereditary spastic paraplegia v1.72 VPS37A Louise Daugherty Classified gene: VPS37A as Red List (low evidence)
Childhood onset hereditary spastic paraplegia v1.72 VPS37A Louise Daugherty Gene: vps37a has been classified as Red List (Low Evidence).
Childhood onset hereditary spastic paraplegia v1.71 VPS37A Louise Daugherty commented on gene: VPS37A: 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 rating
Childhood onset hereditary spastic paraplegia v1.48 VPS37A Louise Daugherty reviewed gene: VPS37A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.8 VPS37A Louise Daugherty Classified gene: VPS37A as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.8 VPS37A Louise Daugherty Gene: vps37a has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v1.6 VPS37A James Polke reviewed gene: VPS37A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 53, autosomal recessive 614898, AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.5 VPS37A Louise Daugherty Source NHS GMS was added to VPS37A.
Childhood onset hereditary spastic paraplegia v1.4 VPS37A Louise Daugherty Source London North GLH was added to VPS37A.
Childhood onset hereditary spastic paraplegia v1.3 VPS37A Louise Daugherty Added phenotypes Spastic paraplegia 53, autosomal recessive for gene: VPS37A
Childhood onset hereditary spastic paraplegia v0.6 VPS37A Sarah Leigh 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