Hereditary ataxia, adult onset
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
-
- Hereditary neuropathy or pain disorder
- Familial breast cancer
- Adult solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Brain cancer pertinent cancer susceptibility
- Primary ovarian insufficiency
- Fetal anomalies
- Inherited prostate cancer
- Haematological malignancies for rare disease
- Neurodegenerative disorders, adult onset
- Inherited pancreatic cancer
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Hereditary neuropathy
- DDG2P
- Inherited breast cancer and ovarian cancer
- Childhood solid tumours cancer susceptibility
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Ataxia and cerebellar anomalies - childhood onset
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Ataxia telangiectasia - mutation testing
- COVID-19 research
- Hereditary ataxia
- Adult solid tumours for rare disease
- Sarcoma susceptibility
- Early onset dystonia
- Intellectual disability
- Hereditary haemorrhagic telangiectasia
- Childhood solid tumours
- Hereditary ataxia, adult onset
- 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 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