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  3. PANK2
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Childhood onset dystonia, chorea or related movement disorder

Gene: PANK2

Green List (high evidence)
PANK2 (pantothenate kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000125779
EnsemblGeneIds (GRCh37): ENSG00000125779
OMIM: 606157, Gene2Phenotype
PANK2 is in 12 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

9 Dec 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: PANK2 were changed from Dystonia; pantothenate kinase-associated neurodegeneration to Dystonia; pantothenate kinase-associated neurodegeneration; Neurodegeneration with brain iron accumulation 1, 234200

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 PANK2. Mode of inheritance for gene PANK2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Dystonia; pantothenate kinase-associated neurodegeneration for gene: PANK2

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: PANK2 was added gene: PANK2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: PANK2 was set to