This Panel is marked as Internal
DNA Repair Genes pertinent cancer susceptibility
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
- Sources
-
- Human DNA Repair Genes Database
- Phenotypes
-
- Class: Genes defective in diseases associated with sensitivity to DNA damaging agents
- Activity: ataxia telangiectasia
- OMIM
- 607585
- Clinvar variants
- Variants in ATM
- Penetrance
- Complete
- Panels with this gene
-
- Inherited ovarian cancer (without breast cancer)
- Vascular skin disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- Neurodegenerative disorders, adult onset
- Hereditary ataxia, adult onset
- Familial breast cancer
- Adult solid tumours cancer susceptibility
- Ataxia and cerebellar anomalies - childhood onset
- Haematological malignancies cancer susceptibility
- Brain cancer pertinent cancer susceptibility
- Primary ovarian insufficiency
- Inherited prostate cancer
- Haematological malignancies for rare disease
- Inherited pancreatic cancer
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- DDG2P
- Inherited breast cancer and ovarian cancer
- Childhood solid tumours cancer susceptibility
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Dystonia, chorea or related movement disorder, adult onset
- Ataxia telangiectasia - mutation testing
- COVID-19 research
- Hereditary ataxia
- Adult solid tumours for rare disease
- Intellectual disability
- Sarcoma susceptibility
- Early onset dystonia
- Hereditary haemorrhagic telangiectasia
- Dystonia, chorea or related movement disorder, childhood onset
- Childhood solid tumours
History Filter Activity
7 Sep 2018, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)This Cancer Germline 100K panel has been subjected to extensive internal and external review and has been versioned to V1 to enable germline reporting in the Cancer Pipeline.
21 Jun 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ATM was created by ellenmcdonagh
21 Jun 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)ATM was added to DNA Repair Genespanel. Sources: Human DNA Repair Genes Database