Early onset dystonia
Gene: ATMEnsemblGeneIds (GRCh38): ENSG00000149311
EnsemblGeneIds (GRCh37): ENSG00000149311
OMIM: 607585, Gene2Phenotype
ATM is in 32 panels
2 reviews
Ellen Thomas (Genomics England Curator)
Comment on list classification: Movement disorders can be part of AT.Created: 5 Sep 2016, 6:41 p.m.
Ellen McDonagh (Genomics England Curator)
Is on the Autosomal Recessive Ataxia NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 9:06 a.m.
Comment on list classification: Feedback from Huw Morris (UCL): Should be green for ataxia, which can involve dystonia.Created: 9 Jun 2016, 11:48 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Ataxia-telangiectasia, OMIM:208900
- OMIM
- 607585
- Clinvar variants
- Variants in ATM
- Penetrance
- Complete
- 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
- 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
- Intellectual disability
- Sarcoma susceptibility
- Early onset dystonia
- Hereditary haemorrhagic telangiectasia
- Childhood solid tumours
- Hereditary ataxia, adult onset
- Inherited ovarian cancer (without breast cancer)
- DDG2P
- Vascular skin disorders
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ATM were changed from Dystonia; Ataxia telangiectasia to Ataxia-telangiectasia, OMIM:208900
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen Thomas (Genomics England Curator)Phenotypes for ATM were set to Dystonia; Ataxia telangiectasia
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for ATM was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
GEL ()ATM was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory