Hereditary neuropathy or pain disorder

Gene: ATM

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 24 Feb 2025, 5:02 p.m. | Last Modified: 24 Feb 2025, 5:02 p.m.

Panel Version: 6.148

Numerous ATM variants have been associated with Ataxia-telangiectasia (OMIM:208900) in 34 cases in PMID: 37540892. Polyneuropathy was a common feature within the affected patients.

Created: 4 Nov 2024, 11:26 a.m. | Last Modified: 4 Nov 2024, 11:26 a.m.

Panel Version: 6.20

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ataxia-telangiectasia, OMIM:208900

Publications

• 37540892

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

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.

Red List (low evidence)

Can get a neuropathy but not in isolation

Created: 29 Apr 2019, 9:20 a.m.

Green List (high evidence)

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.

Green List (high evidence)

Should now be included as R78 has extended its scope to include complex phenotypes that include neuropathy such as ataxia telangiectasia

Created: 15 Oct 2024, 10:28 p.m. | Last Modified: 15 Oct 2024, 10:28 p.m.

Panel Version: 5.19

Ataxia telangiectasia

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 37553836

Ataxia telangiectasia

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