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
-
- Vascular skin disorders
- Intellectual disability
- Fetal anomalies
- Familial breast cancer
- Adult solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Brain cancer pertinent cancer susceptibility
- Dystonia, chorea or related movement disorder, childhood onset
- Primary ovarian insufficiency
- Inherited prostate cancer
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Haematological malignancies for rare disease
- Hereditary neuropathy or pain disorder
- Inherited pancreatic cancer
- Dystonia, chorea or related movement disorder, adult onset
- Hereditary neuropathy
- 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
- Childhood solid tumours
- Hereditary ataxia, adult onset
- Inherited ovarian cancer (without breast cancer)
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