Hereditary neuropathy
Gene: SPAST
The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.Created: 7 Dec 2019, 6:08 p.m. | Last Modified: 7 Dec 2019, 6:08 p.m.
Panel Version: 1.352
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 neuropathyCreated: 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 seriesCreated: 4 Jun 2019, 1:46 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
spasticity
Publications
HSPCreated: 8 Dec 2015, 3:05 p.m.
Phenotypes for gene: SPAST were changed from Hereditary Neuropathies; Spastic paraplegia 4, autosomal dominant; Spasticity to Spastic paraplegia 4, autosomal dominant, OMIM:182601; hereditary spastic paraplegia 4, MONDO:0008438
Phenotypes for gene: SPAST were changed from Hereditary Neuropathies; Spastic paraplegia 4, autosomal dominant to Hereditary Neuropathies; Spastic paraplegia 4, autosomal dominant; Spasticity
Publications for gene: SPAST were set to
Source NHS GMS was added to SPAST.
Source London North GLH was added to SPAST. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for SPAST was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for SPAST were set to Hereditary Neuropathies; Spastic paraplegia 4, autosomal dominant
This gene has been classified as Green List (High Evidence).
SPAST was added to Charcot-Marie-Tooth diseasepanel. Sources: UKGTN,Emory Genetics Laboratory
SPAST was added to Charcot-Marie-Tooth diseasepanel. Sources: UKGTN,Emory Genetics Laboratory