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Childhood onset dystonia or chorea or related movement disorder

Gene: ATP7B

Green List (high evidence)

ATP7B (ATPase copper transporting beta)
EnsemblGeneIds (GRCh38): ENSG00000123191
EnsemblGeneIds (GRCh37): ENSG00000123191
OMIM: 606882, Gene2Phenotype
ATP7B is in 17 panels

1 review

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

Green List (high evidence)

History Filter Activity

6 Dec 2019, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to ATP7B. Mode of inheritance for gene ATP7B was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Wilson disease 277900; Dystonia for gene: ATP7B Publications for gene ATP7B were changed from to 20301685

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: ATP7B was added gene: ATP7B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: ATP7B was set to