Adult solid tumours cancer susceptibility
Gene: ATMEnsemblGeneIds (GRCh38): ENSG00000149311
EnsemblGeneIds (GRCh37): ENSG00000149311
OMIM: 607585, Gene2Phenotype
ATM is in 32 panels
3 reviews
Ivone Leong (Genomics England Curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene greenCreated: 2 Aug 2019, 12:34 p.m. | Last Modified: 2 Aug 2019, 12:34 p.m.
Panel Version: 1.5
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Changed from 'both' monoallelic and biallelic to biallelic after feedback from Lara Hawkes and Clare Turnbull (Cancer Clinical Team, Genomics England) as monoallelic variants in this gene confer moderate risk.Created: 20 Aug 2018, 11:53 a.m.
Comment on mode of pathogenicity: Confirmed with Clare Turnbull that loss of function variants should be reported in this gene.Created: 16 Mar 2018, 9:48 a.m.
Comment on mode of inheritance: Changed to 'both' after feedback from Clare Turnbull.Created: 27 Jul 2017, 10:58 a.m.
Clare Turnbull (Queen Mary University London)
Tumor Suppressor. Biallelic phenotype. Gain of functionCreated: 5 Jul 2017, 12:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Ataxia Telangiectasia
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Expert list
- Phenotypes
-
- Ataxia-telangiectasia, OMIM:208900
- 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
- Adult onset neurodegenerative disorder
- Inherited pancreatic cancer
- Haematological malignancies for rare disease
- Hereditary ataxia with onset in adulthood
- Ataxia telangiectasia - mutation testing
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Hereditary ataxia
- Fetal anomalies
- DDG2P
- Hereditary neuropathy
- Childhood solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Inherited breast cancer and ovarian cancer
- Vascular skin disorders
- Childhood onset dystonia, chorea or related movement disorder
- Familial Tumours Syndromes of the central & peripheral Nervous system
- COVID-19 research
- Ataxia and cerebellar anomalies - narrow panel
- Childhood solid tumours
- Adult solid tumours for rare disease
- Sarcoma susceptibility
- Early onset dystonia
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Adult solid tumours cancer susceptibility
- Adult onset dystonia, chorea or related movement disorder
- Inherited ovarian cancer (without breast cancer)
- Hereditary haemorrhagic telangiectasia
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ATM were changed from Ataxia Telangiectasia to Ataxia-telangiectasia, OMIM:208900
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to ATM.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Clare Turnbull: Tumor Suppressor. Biallelic ph
Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for gene: ATM was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)Mode of pathogenicity for ATM was changed to None
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for ATM was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)Mode of pathogenicity for ATM was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added New Source
Ellen McDonagh (Genomics England Curator)ATM was added to Adult solid tumourspanel. Source: Expert Review Green
Created
Ellen McDonagh (Genomics England Curator)ATM was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)ATM was added to Adult solid tumourspanel. Sources: Expert list