Hereditary ataxia with onset in adulthood
Gene: ATMEnsemblGeneIds (GRCh38): ENSG00000149311
EnsemblGeneIds (GRCh37): ENSG00000149311
OMIM: 607585, Gene2Phenotype
ATM is in 32 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Well described. Currently also listed in test directory for single gene sequencing in Sheffield. Evidence of cancer risk for heterozygous carriersCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia-telangiectasia, 607585
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Hereditary ataxia v1.148
- Phenotypes
-
- Ataxia-telangiectasia, OMIM:208900
- OMIM
- 607585
- Clinvar variants
- Variants in ATM
- Penetrance
- None
- Panels with this gene
-
- Familial breast cancer
- Inherited prostate cancer
- Brain cancer pertinent cancer susceptibility
- Primary ovarian insufficiency
- Intellectual disability
- Inherited pancreatic cancer
- Hereditary ataxia with onset in adulthood
- Haematological malignancies for rare disease
- Fetal anomalies
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Childhood onset dystonia, chorea or related movement disorder
- Ataxia telangiectasia - mutation testing
- Hereditary ataxia
- Hereditary neuropathy
- Childhood solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Inherited breast cancer and ovarian cancer
- Vascular skin disorders
- Hereditary neuropathy or pain disorder
- Familial Tumours Syndromes of the central & peripheral Nervous system
- COVID-19 research
- Childhood solid tumours
- Adult solid tumours for rare disease
- Adult onset neurodegenerative disorder
- Sarcoma susceptibility
- Early onset dystonia
- Adult solid tumours cancer susceptibility
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Inherited ovarian cancer (without breast cancer)
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary haemorrhagic telangiectasia
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ATM were changed from Ataxia-telangiectasia, 607585; Ataxia-Telangiectasia to Ataxia-telangiectasia, OMIM:208900
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Ataxia-telangiectasia, 607585 for gene: ATM
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ATM.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to ATM.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked panel against panel constituents. Ready to promote to version 1.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: ATM was added gene: ATM was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATM were set to Ataxia-Telangiectasia