Cerebral Palsy
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
Luisa Weiss (University of Adelaide)
3 individuals presenting with CP and harboring biallelic compound heterozygous mutations in ATM. At least one of the individual had an overlapping phenotype of CP with Ataxia Teleangiectasia
Sources: LiteratureCreated: 22 May 2023, 5:30 a.m. | Last Modified: 29 May 2023, 5:06 a.m.
Panel Version: 1.36
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia-telangiectasia, MIM#208900
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Ataxia-telangiectasia, MIM#208900
- OMIM
- 607585
- Clinvar variants
- Variants in ATM
- Penetrance
- None
- Publications
- 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
30 May 2023, 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).
30 May 2023, 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).
22 May 2023, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Luisa Weiss (University of Adelaide)gene: ATM was added gene: ATM was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATM were set to 34364746; 26380989; 34114234 Phenotypes for gene: ATM were set to Ataxia-telangiectasia, MIM#208900 Review for gene: ATM was set to GREEN