Chromosome Breakage Disorders
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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association.Created: 12 Feb 2021, 9:33 a.m. | Last Modified: 12 Feb 2021, 9:33 a.m.
Panel Version: 0.32
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia-telangiectasia, MIM# 208900
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Ataxia-telangiectasia, MIM# 208900
- 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
12 Feb 2021, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atm has been classified as Green List (High Evidence).
12 Feb 2021, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ATM were changed from to Ataxia-telangiectasia, MIM# 208900
12 Feb 2021, Gel status: 3
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: ATM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
17 Nov 2019, 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 Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ATM was set to Unknown