Inherited ovarian cancer (without breast cancer)
Gene: ATM
ATM (ATM serine/threonine kinase)
EnsemblGeneIds (GRCh38): ENSG00000149311
EnsemblGeneIds (GRCh37): ENSG00000149311
OMIM: 607585, Gene2Phenotype
ATM is in 32 panels
EnsemblGeneIds (GRCh38): ENSG00000149311
EnsemblGeneIds (GRCh37): ENSG00000149311
OMIM: 607585, Gene2Phenotype
ATM is in 32 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Emory Genetics Laboratory
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- {Breast cancer, susceptibility to}, OMIM:114480
- OMIM
- 607585
- Clinvar variants
- Variants in ATM
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Familial breast cancer
- Adult solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Brain cancer pertinent cancer susceptibility
- Primary ovarian insufficiency
- Inherited prostate cancer
- Haematological malignancies for rare disease
- Inherited pancreatic cancer
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Hereditary neuropathy
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Neurodegenerative disorders, adult onset
- DDG2P
- Inherited breast cancer and ovarian cancer
- Childhood solid tumours cancer susceptibility
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Ataxia telangiectasia - mutation testing
- COVID-19 research
- Hereditary ataxia
- Ataxia and cerebellar anomalies - childhood onset
- Adult solid tumours for rare disease
- Sarcoma susceptibility
- Early onset dystonia
- Hereditary haemorrhagic telangiectasia
- Hereditary neuropathy or pain disorder
- Childhood solid tumours
- Hereditary ataxia, adult onset
- Fetal anomalies
- Inherited ovarian cancer (without breast cancer)
- Vascular skin disorders
History Filter Activity
15 Jul 2021, Gel status: 1
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
31 Jul 2017, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31/07/2017: Promoted panel to version 1, after checking against the original list sent by Clare Turnbull for this panel.
26 May 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)ATM was added to Familial ovarian cancerpanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert Review Red
26 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ATM was created by ellenmcdonagh