Hereditary neuropathy
Gene: ATP1A1
Mutations reported in multiple familiesCreated: 10 May 2019, 1:01 p.m.
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.
Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2DD, 618036
Publications
Mode of inheritance for gene: ATP1A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Source Expert Review Green was added to ATP1A1. Rating Changed from Red List (low evidence) to Green List (high evidence)
Phenotypes for gene: ATP1A1 were changed from to Charcot-Marie-Tooth disease, axonal, type 2DD, 618036
Publications for gene: ATP1A1 were set to
Source NHS GMS was added to ATP1A1.
gene: ATP1A1 was added gene: ATP1A1 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: ATP1A1 was set to