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
-
- Familial breast cancer
- Haematological malignancies cancer susceptibility
- Brain cancer pertinent cancer susceptibility
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- DDG2P
- Primary ovarian insufficiency
- Ataxia and cerebellar anomalies - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Haematological malignancies for rare disease
- Adult onset neurodegenerative disorder
- Inherited breast cancer and ovarian cancer
- Inherited prostate cancer
- Ataxia telangiectasia - mutation testing
- Inherited pancreatic cancer
- Hereditary neuropathy
- Fetal anomalies
- Adult onset dystonia, chorea or related movement disorder
- Childhood solid tumours cancer susceptibility
- Vascular skin disorders
- Familial Tumours Syndromes of the central & peripheral Nervous system
- COVID-19 research
- Inherited ovarian cancer (without breast cancer)
- Hereditary ataxia
- Adult solid tumours for rare disease
- Hereditary neuropathy or pain disorder
- Sarcoma susceptibility
- Early onset dystonia
- Adult solid tumours cancer susceptibility
- Childhood solid tumours
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Hereditary haemorrhagic telangiectasia
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