This Panel is marked as Retired
Multiple Tumours
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 McDonagh (Genomics England Curator)
Information from TruSight panel: Pathogenic Mutations are Inactivating.Created: 5 Feb 2016, 11:46 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- TruSight Cancer Panel (Illumina)
- Phenotypes
-
- Ataxia-Telangiectasia (biallelic mutations)
- Lymphoid hematological malignancy (leukemia, lymphoma) (biallelic mutations)
- Breast cancer (monoallelic mutations)
- Paediatric congenital malformation-dysmorphism-tumour syndromes
- 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
- Primary ovarian insufficiency
- Adult onset neurodegenerative disorder
- Inherited pancreatic cancer
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Hereditary ataxia with onset in adulthood
- Haematological malignancies for rare disease
- Hereditary neuropathy
- Fetal anomalies
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset dystonia, chorea or related movement disorder
- Ataxia telangiectasia - mutation testing
- Vascular skin disorders
- Childhood solid tumours cancer susceptibility
- Inherited breast cancer and ovarian cancer
- Inherited ovarian cancer (without breast cancer)
- Hereditary neuropathy or pain disorder
- Familial Tumours Syndromes of the central & peripheral Nervous system
- COVID-19 research
- Hereditary haemorrhagic telangiectasia
- Hereditary ataxia
- Inherited prostate cancer
- Adult solid tumours for rare disease
- Ataxia and cerebellar anomalies - narrow panel
- Sarcoma susceptibility
- Early onset dystonia
- DDG2P
- Childhood solid tumours
- Intellectual disability
History Filter Activity
9 Mar 2016, Gel status: 4
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)ATM was added to Multiple Tumourspanel. Source: Expert Review Green Model of inheritance for gene ATM was set to BIALLELIC, autosomal or pseudoautosomal
5 Feb 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ATM was created by ellenmcdonagh
5 Feb 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)ATM was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)