Familial breast cancer
Gene: ATMEnsemblGeneIds (GRCh38): ENSG00000149311
EnsemblGeneIds (GRCh37): ENSG00000149311
OMIM: 607585, Gene2Phenotype
ATM is in 32 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)
some evidence of higher penetrance for V2424G but not currently tested for in UK. To remain under review for green statusCreated: 2 Oct 2015, 11 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paul Pharoah (University of Cambridge)
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
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- {Breast cancer, susceptibility to}, OMIM:114480
- OMIM
- 607585
- Clinvar variants
- Variants in ATM
- Penetrance
- Incomplete
- Publications
- Panels with this gene
-
- Familial breast cancer
- Inherited prostate cancer
- Brain cancer pertinent cancer susceptibility
- Primary ovarian insufficiency
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Inherited pancreatic cancer
- Ataxia and cerebellar anomalies - narrow panel
- Haematological malignancies for rare disease
- Adult onset neurodegenerative disorder
- Intellectual disability
- Hereditary ataxia with onset in adulthood
- Ataxia telangiectasia - mutation testing
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- DDG2P
- Hereditary neuropathy
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Inherited breast cancer and ovarian cancer
- Vascular skin disorders
- Familial Tumours Syndromes of the central & peripheral Nervous system
- COVID-19 research
- Childhood solid tumours
- Adult solid tumours for rare disease
- Sarcoma susceptibility
- Early onset dystonia
- Adult solid tumours cancer susceptibility
- Adult onset dystonia, chorea or related movement disorder
- Inherited ovarian cancer (without breast cancer)
- Hereditary neuropathy or pain disorder
- Hereditary haemorrhagic telangiectasia
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ATM were changed from Ataxia-telangiectasia, 208900; Lymphoma, B-cell non-Hodgkin, somatic; {Breast cancer, susceptibility to}, 114480; Lymphoma, mantle cell; T-cell prolymphocytic leukemia, somatic; Breast and Ovarian Cancer to {Breast cancer, susceptibility to}, OMIM:114480
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ATM were set to 19781682
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for ATM was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)ATM was added to Familial breast cancerpanel. Sources: Emory Genetics Laboratory
Added New Source
Eik Haraldsdottir (Genomics England)ATM was added to Familial breast cancerpanel. Sources: Radboud University Medical Center, Nijmegen