Adult onset dystonia, chorea or related movement disorder
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
Louise Daugherty (Genomics England Curator)
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 1:19 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- London North GLH
- 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
-
- Familial breast cancer
- Inherited prostate cancer
- Intellectual disability
- Brain cancer pertinent cancer susceptibility
- Primary ovarian insufficiency
- Inherited pancreatic cancer
- Hereditary ataxia with onset in adulthood
- Fetal anomalies
- Haematological malignancies for rare disease
- 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
24 Mar 2021, Gel status: 3
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: ATM were changed from Ataxia-telangiectasia OMIM:208900 to Ataxia-telangiectasia OMIM:208900; ataxia telangiectasia MONDO:0008840
24 Mar 2021, Gel status: 3
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: ATM were changed from Dystonia; Ataxia telangiectasia to Ataxia-telangiectasia OMIM:208900
23 Apr 2019, Gel status: 4
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ATM.
23 Apr 2019, Gel status: 4
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to ATM.
3 Jan 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: ATM was added gene: ATM was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATM were set to Dystonia; Ataxia telangiectasia