Hereditary neuropathy NOT PMP22 copy numberGene: SPAST
Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - HSP with neuropathy / Broader phenotype (HSP)
Created: 7 Dec 2019, 12:03 a.m. | Last Modified: 7 Dec 2019, 12:03 a.m.
Panel Version: 0.86
This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Created: 6 Dec 2019, 10:25 p.m. | Last Modified: 6 Dec 2019, 10:25 p.m.
Panel Version: 0.84
Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
Created: 11 Jun 2019, 1:40 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, 5 p.m.
Agree, wasnt aware this also caused neuropathy
Created: 29 Apr 2019, 9:20 a.m.
Comment on list classification: Promoted from amber to green due to expert review, and is green on the HSP (hereditary spastic paraplegia) panel.
Created: 4 May 2016, 9:07 a.m.
Peripheral neuropathy in > unrelated individuals in above case series
Created: 4 Jun 2019, 1:46 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created: 8 Dec 2015, 3:05 p.m.
Source Expert Review Amber was added to SPAST. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
gene: SPAST was added gene: SPAST was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,UKGTN,Expert Review Green Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPAST were set to 28572275 Phenotypes for gene: SPAST were set to Hereditary Neuropathies; Spastic paraplegia 4, autosomal dominant; Spasticity