Adult solid tumours for rare disease
Gene: ATMEnsemblGeneIds (GRCh38): ENSG00000149311
EnsemblGeneIds (GRCh37): ENSG00000149311
OMIM: 607585, Gene2Phenotype
ATM is in 32 panels
3 reviews
Helen Brittain (Genomics England Curator)
Comment on mode of inheritance: As per updated advice from the cancer clinical teamCreated: 24 Aug 2018, 2:27 p.m.
Recommended after review by Clare Turnbull and Lara Hawkes in view of level of risk associated with monoallelic variants.Created: 24 Aug 2018, 2:26 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ellen McDonagh (Genomics England Curator)
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
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Ataxia-telangiectasia, OMIM:208900
- OMIM
- 607585
- Clinvar variants
- Variants in ATM
- Penetrance
- None
- Panels with this gene
-
- Hereditary haemorrhagic telangiectasia
- Intellectual disability
- 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
- Hereditary neuropathy or pain disorder
- 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
- 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)
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ATM were changed from Ataxia Telangiectasia to Ataxia-telangiectasia, OMIM:208900
Set mode of inheritance
Helen Brittain (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 inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for gene: ATM was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)5th March 2018 - promoted to version 1 after expert review and internal clinical review.
Added New Source
Ellen McDonagh (Genomics England Curator)ATM was added to Adult solid tumours for rare disease panel. Sources: Expert list,Expert Review Green
Created
Ellen McDonagh (Genomics England Curator)ATM was created by Ellen McDonagh