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  3. CC2D2A
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Childhood onset dystonia, chorea or related movement disorder

Gene: CC2D2A

Red List (low evidence)
CC2D2A (coiled-coil and C2 domain containing 2A)
EnsemblGeneIds (GRCh38): ENSG00000048342
EnsemblGeneIds (GRCh37): ENSG00000048342
OMIM: 612013, Gene2Phenotype
CC2D2A is in 28 panels

1 review

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

Red List (low 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 Dec 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to CC2D2A. Mode of inheritance for gene CC2D2A was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Joubert syndrome with oculorenal defect; Meckel syndrome 6; Meckel syndrome; COACH syndrome; Joubert syndrome 9 for gene: CC2D2A

6 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: CC2D2A was added gene: CC2D2A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CC2D2A was set to