Familial Tumours Syndromes of the central & peripheral Nervous system
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
1 review
Ellen Thomas (Genomics England Curator)
Comment on list classification: Not specifically PNS and CNS tumours.Created: 27 May 2016, 7:58 a.m.
Details
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Brain, CNS, and PNS Cancer
- OMIM
- 607585
- Clinvar variants
- Variants in ATM
- Penetrance
- Complete
- Panels with this gene
-
- Familial breast cancer
- Adult solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Brain cancer pertinent cancer susceptibility
- Hereditary ataxia with onset in adulthood
- Primary ovarian insufficiency
- DDG2P
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Hereditary neuropathy
- Inherited pancreatic cancer
- Haematological malignancies for rare disease
- Adult onset neurodegenerative disorder
- Ataxia telangiectasia - mutation testing
- Adult onset dystonia, chorea or related movement disorder
- Vascular skin disorders
- Childhood solid tumours cancer susceptibility
- Inherited breast cancer and ovarian cancer
- Inherited ovarian cancer (without breast cancer)
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Familial Tumours Syndromes of the central & peripheral Nervous system
- COVID-19 research
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary haemorrhagic telangiectasia
- Hereditary ataxia
- Inherited prostate cancer
- Adult solid tumours for rare disease
- Fetal anomalies
- Sarcoma susceptibility
- Early onset dystonia
- Childhood solid tumours
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
27 May 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
27 May 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
23 May 2016, Gel status: 2
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
27 Aug 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)ATM was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Source: Emory Genetics Laboratory
22 Jul 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)ATM was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Sources: Emory Genetics Laboratory