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Hereditary neuropathy NOT PMP22 copy number

Gene: ATM

Amber List (moderate evidence)

ATM (ATM serine/threonine kinase)
EnsemblGeneIds (GRCh38): ENSG00000149311
EnsemblGeneIds (GRCh37): ENSG00000149311
OMIM: 607585, Gene2Phenotype
ATM is in 29 panels

7 reviews

Natalie Forrester (SWGLH - Bristol Genetics)

I don't know

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

Phenotypes
Hereditary Neuropathies; Ataxia-telangiectasia

Louise Daugherty (Genomics England Curator)

I don't know

Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - ataxia with neuropathy / Broader phenotype - biallelic only (cancer risk)
Created: 6 Dec 2019, 2 p.m. | Last Modified: 6 Dec 2019, 2 p.m.
Panel Version: 0.29
Comment on list classification: 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, 1:59 p.m. | Last Modified: 6 Dec 2019, 1:59 p.m.
Panel Version: 0.29
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.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Can get a neuropathy but not in isolation
Created: 29 Apr 2019, 9:20 a.m.

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

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.

Alexander Rossor (UCL Institute of Neurology)

Ataxia telangiectasia
Created: 9 Dec 2015, 8:49 a.m.

Mary Reilly (Institute of Neurology)

Ataxia telangiectasia
Created: 8 Dec 2015, 3:05 p.m.

History Filter Activity

6 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: atm has been classified as Amber List (Moderate Evidence).

5 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: ATM was added gene: ATM was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,Expert Review Green,South West GLH Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATM were set to Hereditary Neuropathies; Ataxia-telangiectasia