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  3. EVC2
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Childhood onset dystonia, chorea or related movement disorder

Gene: EVC2

Red List (low evidence)
EVC2 (EvC ciliary complex subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000173040
EnsemblGeneIds (GRCh37): ENSG00000173040
OMIM: 607261, Gene2Phenotype
EVC2 is in 14 panels

1 review

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

Red List (low evidence)

Created: 9 Jul 2019, 4:25 p.m.
Last Modified: 9 Jul 2019, 4:25 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 Dec 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to EVC2. Mode of inheritance for gene EVC2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ellis-van Creveld syndrome, 225500; Weyers acrofacial dysostosis, 193530 for gene: EVC2

6 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: EVC2 was added gene: EVC2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: EVC2 was set to