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Ataxia telangiectasia - mutation testing
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
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #208900) and the OMIM record was last accessed on 17 December 2025.Created: 17 Dec 2025, 9:53 p.m. | Last Modified: 17 Dec 2025, 9:53 p.m.
Panel Version: 1.2
Eleanor Williams (Genomics England Curator)
ATM has been added to the panel for the clinical indication 'R295 Ataxia telangiectasia - mutation testing' with a green rating as agreed with the NHS Genomic Medicine Service.Created: 14 Jan 2023, 9:26 p.m. | Last Modified: 14 Jan 2023, 9:26 p.m.
Panel Version: 0.3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Ataxia telangiectasia, OMIM:208900
- ataxia telangiectasia, MONDO:0008840
- OMIM
- 607585
- Clinvar variants
- Variants in ATM
- Penetrance
- None
- Panels with this gene
-
- Hereditary haemorrhagic telangiectasia
- 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
- 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
- Intellectual disability
- 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)
- Hereditary neuropathy or pain disorder
History Filter Activity
17 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: ATM were changed from to Ataxia telangiectasia, OMIM:208900; ataxia telangiectasia, MONDO:0008840
14 Jan 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: ATM was added gene: ATM was added to Ataxia telangiectasia - mutation testing. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal