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
- Haematological malignancies cancer susceptibility
- Brain cancer pertinent cancer susceptibility
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- DDG2P
- Primary ovarian insufficiency
- Childhood onset dystonia, chorea or related movement disorder
- Haematological malignancies for rare disease
- Adult onset neurodegenerative disorder
- Inherited breast cancer and ovarian cancer
- Inherited prostate cancer
- Ataxia telangiectasia - mutation testing
- Inherited pancreatic cancer
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Fetal anomalies
- Ataxia and cerebellar anomalies - narrow panel
- Childhood solid tumours cancer susceptibility
- Vascular skin disorders
- Familial Tumours Syndromes of the central & peripheral Nervous system
- COVID-19 research
- Inherited ovarian cancer (without breast cancer)
- Hereditary ataxia
- Adult solid tumours for rare disease
- Hereditary neuropathy or pain disorder
- Sarcoma susceptibility
- Early onset dystonia
- Adult solid tumours cancer susceptibility
- Childhood solid tumours
- Primary immunodeficiency or monogenic inflammatory bowel disease
- 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