Hereditary neuropathy
Gene: SACS
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
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.
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Complex phnenotype; caution in reporting in absence of other featuresCreated: 8 Jul 2016, 4:39 a.m.
Comment on list classification: Is a probable DD gene for spastic ataxia charlevoix-saguenay type.Created: 5 May 2016, 9:33 a.m.
Complex phenotype, not CMTCreated: 9 Dec 2015, 8:50 a.m.
Complex phenotype, not CMTCreated: 8 Dec 2015, 3:06 p.m.
Source NHS GMS was added to SACS.
Source London North GLH was added to SACS. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for SACS was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Red List (Low Evidence).
SACS was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Emory Genetics Laboratory
SACS was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Emory Genetics Laboratory