Sarcoma 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
1 review
Rebecca Foulger (Genomics England curator)
This gene was added to the panel as suggested by Dr Fernanda Amary (Royal National Orthopaedic Hospital, NHS Trust). Gene Symbol submitted: ATM; Evidence for inclusion: PMID:27498913. Rated Amber as agreed at the Genomics Cancer Panel Workshop, 16th July 2019.Created: 23 Jul 2019, 3:16 p.m. | Last Modified: 23 Jul 2019, 3:16 p.m.
Panel Version: 0.2
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Amber
- Expert list
- Phenotypes
-
- Sarcoma, MONDO:0005089
- OMIM
- 607585
- Clinvar variants
- Variants in ATM
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary haemorrhagic telangiectasia
- Familial breast cancer
- Inherited prostate cancer
- Hereditary neuropathy
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Brain cancer pertinent cancer susceptibility
- Primary ovarian insufficiency
- Haematological malignancies cancer susceptibility
- Inherited pancreatic cancer
- COVID-19 research
- Adult onset neurodegenerative disorder
- Haematological malignancies for rare disease
- Hereditary ataxia with onset in adulthood
- Ataxia telangiectasia - mutation testing
- Hereditary ataxia
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Childhood onset dystonia, chorea or related movement disorder
- Inherited breast cancer and ovarian cancer
- Adult onset dystonia, chorea or related movement disorder
- Vascular skin disorders
- Familial Tumours Syndromes of the central & peripheral Nervous system
- DDG2P
- Intellectual disability
- Adult solid tumours for rare disease
- Sarcoma susceptibility
- Early onset dystonia
- Ataxia and cerebellar anomalies - narrow panel
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Inherited ovarian cancer (without breast cancer)
- Hereditary neuropathy or pain disorder
History Filter Activity
11 Mar 2021, Gel status: 2
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: ATM were set to 27498913; 30567006
11 Mar 2021, Gel status: 2
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: ATM were set to 27498913
11 Mar 2021, Gel status: 2
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: ATM was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Mar 2021, Gel status: 2
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ATM were changed from to Sarcoma, MONDO:0005089
1 Aug 2019, Gel status: 2
Added New Source
Rebecca Foulger (Genomics England curator)Source NHS GMS was added to ATM.
23 Jul 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set publications
Rebecca Foulger (Genomics England curator)gene: ATM was added gene: ATM was added to Sarcoma susceptibility. Sources: Expert list,Expert Review Amber Mode of inheritance for gene: ATM was set to Publications for gene: ATM were set to 27498913