Hereditary neuropathyGene: ATM
Not pure neuropathy but would perhaps include for differential diagnosis of Ataxia-telangiectasia. But caution needed as linked with cancer susceptibility
Created: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathies; Ataxia-telangiectasia
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.
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 29 Apr 2019, 12:53 p.m.
Can get a neuropathy but not in isolation
Created: 29 Apr 2019, 9:20 a.m.
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Promoted from red to green due to expert review, and a confirmed DD gene for ataxia-telangiectasia.
Created: 4 May 2016, 9:38 a.m.
Comment on mode of inheritance: Source: OMIM and G2P.
Created: 4 May 2016, 9:37 a.m.
Created: 9 Dec 2015, 8:49 a.m.
Created: 8 Dec 2015, 3:05 p.m.
Added phenotypes Hereditary Neuropathies; Ataxia-telangiectasia for gene: ATM
Source South West GLH was added to ATM.
Source NHS GMS was added to ATM.
Source London North GLH was added to ATM. Rating Changed from Green List (high evidence) to Green List (high evidence)
Phenotypes for ATM were set to Hereditary Neuropathies; Ataxia-telangiectasia
This gene has been classified as Green List (High Evidence).
Mode of inheritance for ATM was changed to BIALLELIC, autosomal or pseudoautosomal
ATM was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory