Hereditary ataxia
Gene: ATMEnsemblGeneIds (GRCh38): ENSG00000149311
EnsemblGeneIds (GRCh37): ENSG00000149311
OMIM: 607585, Gene2Phenotype
ATM is in 32 panels
2 reviews
Damian Smedley (Genomics England Curator)
Comment when marking as ready: Good evidence from expert reviewer and OMIMCreated: 2 Feb 2016, 9:57 a.m.
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Fine. Lots of evidence in literature. Positives in our cohortCreated: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia-Telangiectasia ; Ataxia-telangiectasia,
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Phenotypes
-
- Ataxia-telangiectasia, OMIM:208900
- OMIM
- 607585
- Clinvar variants
- Variants in ATM
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary haemorrhagic telangiectasia
- Familial breast cancer
- Inherited prostate cancer
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Brain cancer pertinent cancer susceptibility
- Intellectual disability
- DDG2P
- Primary ovarian insufficiency
- Inherited pancreatic cancer
- Ataxia and cerebellar anomalies - narrow panel
- Haematological malignancies for rare disease
- Hereditary ataxia with onset in adulthood
- Ataxia telangiectasia - mutation testing
- Hereditary ataxia
- Childhood solid tumours cancer susceptibility
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Haematological malignancies cancer susceptibility
- Inherited breast cancer and ovarian cancer
- Vascular skin disorders
- Childhood onset dystonia, chorea or related movement disorder
- Familial Tumours Syndromes of the central & peripheral Nervous system
- COVID-19 research
- Adult onset neurodegenerative disorder
- Adult solid tumours for rare disease
- Sarcoma susceptibility
- Early onset dystonia
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Adult onset dystonia, chorea or related movement disorder
- Inherited ovarian cancer (without breast cancer)
- Fetal anomalies
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ATM were changed from Ataxia-Telangiectasia ; Ataxia-telangiectasia, to Ataxia-telangiectasia, OMIM:208900
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ATM was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)ATM was added to Hereditary ataxiapanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ATM was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)ATM was added to Hereditary ataxiapanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)ATM was added to Hereditary ataxiapanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen