Familial breast cancer

Gene: ATM

Green List (high evidence)

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

4 reviews

Ellen McDonagh (Genomics England Curator)

Inclusion of this gene on this panel was raised within the Inherited Cancer Predisposition GeCIP Domain group July 5th, and the conclusion was that this gene should be included on this panel for reporting.
Created: 18 Jul 2017, 8:54 a.m.
Comment on list classification: New feedback from Clare Turnbull; this gene should now be green.
Created: 30 May 2017, 9:50 a.m.

Ellen Thomas (Genomics England Curator)

Comment when marking as ready: Not currently actionable in the NHS. Will need to keep this under review.
Created: 29 Jan 2016, 2:15 p.m.
Comment on list classification: No clinical pathway at present. Could consider just adding V2424G once we can curate variants.
Created: 29 Jan 2016, 2:12 p.m.

Clare Turnbull (Queen Mary University London)

Red List (low evidence)

some evidence of higher penetrance for V2424G but not currently tested for in UK. To remain under review for green status
Created: 2 Oct 2015, 11 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Paul Pharoah (University of Cambridge)

Green List (high evidence)

Model: incomplete penetrance dominant
LoF variants associated with lifetime risk of 20-30%
V2424G very rare and associated with risk>30%
Created: 1 Oct 2015, 2:45 p.m.

Mode of inheritance
Other

Phenotypes
breast cacner

Publications

Mode of pathogenicity
Other

Details

History Filter Activity

30 May 2017, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ATM were set to 19781682

30 May 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Jan 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

29 Jan 2016, Gel status: 1

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for ATM was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

29 Jan 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

27 Jul 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

ATM was added to Familial breast cancerpanel. Sources: Emory Genetics Laboratory

27 Jul 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

ATM was added to Familial breast cancerpanel. Sources: Radboud University Medical Center, Nijmegen