Incidentalome_PREGEN_DRAFT
Gene: ATM
ATM (ATM serine/threonine kinase)
EnsemblGeneIds (GRCh38): ENSG00000149311
EnsemblGeneIds (GRCh37): ENSG00000149311
OMIM: 607585, Gene2Phenotype
ATM is in 23 panels
EnsemblGeneIds (GRCh38): ENSG00000149311
EnsemblGeneIds (GRCh37): ENSG00000149311
OMIM: 607585, Gene2Phenotype
ATM is in 23 panels
1 review
Tony Roscioli (New South Wales Health Pathology)
ATM is a risk factor for breast cancer
The Mendelian phenotype is Ataxia-Telangiectasia with no clear fetal phenotype
Needs discussionCreated: 4 Dec 2020, 3:58 a.m. | Last Modified: 4 Dec 2020, 3:58 a.m.
Panel Version: 0.3
Details
- Mode of Inheritance
- Unknown
- Sources
-
- NSW Health Pathology
- Expert Review Green
- OMIM
- 607585
- Clinvar variants
- Variants in ATM
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Combined Immunodeficiency
- Chromosome Breakage Disorders
- Prostate Cancer
- Prepair 1000+
- Breast Cancer
- Incidentalome_PREGEN_DRAFT
- Hereditary Neuropathy - complex
- Pancreatic Cancer
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Cancer Predisposition_Paediatric
- Vascular Malformations_Germline
- Regression
- Fetal anomalies
- Additional findings_Paediatric
- Dystonia - complex
- Ataxia - adult onset
- Mendeliome
- Prepair 500+
- Ataxia - paediatric
- Growth failure
- Cerebral Palsy
History Filter Activity
9 Nov 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ATM was added gene: ATM was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology Mode of inheritance for gene: ATM was set to Unknown