Childhood solid tumours 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
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Changed to biallelic after feedback from Clare Turnbull.Created: 27 Jul 2017, 11 a.m.
Clare Turnbull (Queen Mary University London)
Tumour suppressor. Kinase. Report biallelic only.Created: 5 Jul 2017, 11:28 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Ataxia Telangiectasia
Publications
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
- Complete
- Publications
- 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
15 Jul 2021, Gel status: 3
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ATM were changed from Ataxia Telangiectasia to Ataxia-telangiectasia, OMIM:208900
7 Sep 2018, Gel status: 3
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Clare Turnbull: Tumour suppressor. Kinase. Rep
27 Jul 2017, Gel status: 4
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for ATM was changed to BIALLELIC, autosomal or pseudoautosomal
5 Jul 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)ATM was added to Childhood solid tumourspanel. Source: Expert Review Green
5 Jul 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ATM was created by ellenmcdonagh
5 Jul 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)ATM was added to Childhood solid tumourspanel. Sources: Expert list