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  3. C5orf42
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Childhood onset dystonia, chorea or related movement disorder

Gene: C5orf42

Red List (low evidence)
C5orf42 (chromosome 5 open reading frame 42)
EnsemblGeneIds (GRCh38): ENSG00000197603
EnsemblGeneIds (GRCh37): ENSG00000197603
OMIM: 614571, Gene2Phenotype
C5orf42 is in 20 panels

2 reviews

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

Red List (low evidence)

Gene name updated from C5orf42 (HGNC)
Created: 9 Jul 2019, 4:24 p.m. | Last Modified: 9 Jul 2019, 4:24 p.m.
Panel Version: 0.9
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

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for C5orf42 is CPLANE1
Created: 5 Apr 2019, 4:40 p.m.
Created: 5 Apr 2019, 4:40 p.m.

Panel version: 1.0

History Filter Activity

18 Dec 2019, Gel status: 1

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: C5orf42.

6 Dec 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to C5orf42. Mode of inheritance for gene C5orf42 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Joubert syndrome 17; Oral-facial-digital syndrome type VI; Joubert syndrome for gene: C5orf42 Publications for gene C5orf42 were changed from to 22425360; 22693042; 25920555

6 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: C5orf42 was added gene: C5orf42 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: C5orf42 was set to