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Dystonia, chorea or related movement disorder, childhood onset

Gene: ATM

Green List (high evidence)
ATM (ATM serine/threonine kinase)
EnsemblGeneIds (GRCh38): ENSG00000149311
EnsemblGeneIds (GRCh37): ENSG00000149311
OMIM: 607585, Gene2Phenotype
ATM is in 32 panels

1 review

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

History Filter Activity

6 Jul 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ATM were changed from Dystonia; Ataxia telangiectasia, 208900 to Ataxia-telangiectasia, OMIM:208900

8 Dec 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ATM were changed from Dystonia; Ataxia telangiectasia to Dystonia; Ataxia telangiectasia, 208900

6 Dec 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to ATM. Mode of inheritance for gene ATM was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Dystonia; Ataxia telangiectasia for gene: ATM

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: ATM was added gene: ATM was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: ATM was set to