Dystonia - complex
Gene: ATM

ATM (ATM serine/threonine kinase)
EnsemblGeneIds (GRCh38): ENSG00000149311
EnsemblGeneIds (GRCh37): ENSG00000149311
OMIM: 607585, Gene2Phenotype
ATM is in 23 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

AT is characterized by cerebellar ataxia, telangiectasias, immune defects, and a predisposition to malignancy. Multiple unrelated families reported with a range of phenotypes including dystonia/dystonic tremor. Some cases develop parkinsonism later on as the disease progresses however they all present with some form of progressive neurological manifestation.
Created: 5 Dec 2024, 4:35 a.m. | Last Modified: 5 Dec 2024, 4:35 a.m.

Panel Version: 0.242

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ataxia telangiectasia MONDO:0008840

Publications

Created: 5 Dec 2024, 4:35 a.m.
Last Modified: 5 Dec 2024, 4:35 a.m.
Panel version: 0.242

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Ataxia telangiectasia
Dystonia

OMIM

607585

Clinvar variants

Variants in ATM

Penetrance

None

Panels with this gene

History Filter Activity

27 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: ATM was added gene: ATM was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATM were set to Ataxia telangiectasia; Dystonia

Dystonia - complex Gene: ATM