Haematological malignancies for rare disease
Gene: ATMEnsemblGeneIds (GRCh38): ENSG00000149311
EnsemblGeneIds (GRCh37): ENSG00000149311
OMIM: 607585, Gene2Phenotype
ATM is in 32 panels
1 review
Clare Turnbull (Queen Mary University London)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Curated sources
- Phenotypes
-
- Ataxia-telangiectasia, OMIM:208900
- T-cell prolymphocytic leukemia, somatic
- OMIM
- 607585
- Clinvar variants
- Variants in ATM
- Penetrance
- None
- Publications
-
- 28297620
- Cancer Gene Census
- Panels with this gene
-
- Hereditary ataxia, adult onset
- Familial breast cancer
- Adult solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Brain cancer pertinent cancer susceptibility
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Primary ovarian insufficiency
- Dystonia, chorea or related movement disorder, childhood onset
- Inherited prostate cancer
- Haematological malignancies for rare disease
- Inherited pancreatic cancer
- Hereditary neuropathy
- DDG2P
- Inherited breast cancer and ovarian cancer
- Childhood solid tumours cancer susceptibility
- Intellectual disability
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Dystonia, chorea or related movement disorder, adult onset
- Ataxia telangiectasia - mutation testing
- COVID-19 research
- Hereditary ataxia
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - childhood onset
- Adult solid tumours for rare disease
- Sarcoma susceptibility
- Neurodegenerative disorders, adult onset
- Early onset dystonia
- Hereditary haemorrhagic telangiectasia
- Fetal anomalies
- Childhood solid tumours
- Inherited ovarian cancer (without breast cancer)
- Vascular skin disorders
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ATM were changed from Class: BM failure syndrome (typ AR); Ataxia telangiectasia; leukaemia; lymphoma; medulloblastoma; glioma; ataxia-telangiectasia; Lymphoma, ALL (particularly T-ALL); Leukaemia to Ataxia-telangiectasia, OMIM:208900; T-cell prolymphocytic leukemia, somatic
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)22nd August 2018: Reviewed by Helen Brittain, and suggested changes approved by Clare Turnbull. Changes made prior to promoting to version 1.
Added New Source
Ellen McDonagh (Genomics England Curator)ATM was added to Haematological malignancies for rare disease panel. Sources: Curated sources,Expert Review Green
Created
Ellen McDonagh (Genomics England Curator)ATM was created by Ellen McDonagh