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
-
- Familial breast cancer
- Inherited prostate cancer
- Brain cancer pertinent cancer susceptibility
- Primary ovarian insufficiency
- Inherited pancreatic cancer
- Hereditary neuropathy or pain disorder
- Hereditary ataxia with onset in adulthood
- Haematological malignancies for rare disease
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Childhood onset dystonia, chorea or related movement disorder
- Ataxia telangiectasia - mutation testing
- Hereditary ataxia
- Hereditary neuropathy
- Childhood solid tumours cancer susceptibility
- Intellectual disability
- 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
- Ataxia and cerebellar anomalies - narrow panel
- Adult solid tumours for rare disease
- Adult onset neurodegenerative disorder
- Sarcoma susceptibility
- Early onset dystonia
- Adult solid tumours cancer susceptibility
- Adult onset dystonia, chorea or related movement disorder
- Fetal anomalies
- DDG2P
- Inherited ovarian cancer (without breast cancer)
- Hereditary haemorrhagic telangiectasia
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