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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) |
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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 |
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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 |