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  3. CYP27A1
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Childhood onset dystonia, chorea or related movement disorder

Gene: CYP27A1

Amber List (moderate evidence)
CYP27A1 (cytochrome P450 family 27 subfamily A member 1)
EnsemblGeneIds (GRCh38): ENSG00000135929
EnsemblGeneIds (GRCh37): ENSG00000135929
OMIM: 606530, Gene2Phenotype
CYP27A1 is in 28 panels

2 reviews

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

I don't know

?enough of a movement disorder
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

Emily Jones (North Bristol NHS Trust)

I don't know

Dystonia is not listed on OMIM as feature of CTX, but GeneReviews for this disorder (adult onset) does include dystonia. On PMID 24442603 ataxia is listed on suspicion index
Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Created: 9 Jul 2019, 3:59 p.m.
Last Modified: 9 Jul 2019, 3:59 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH panel version 0.10

History Filter Activity

6 Dec 2019, Gel status: 2

Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to CYP27A1. Mode of inheritance for gene CYP27A1 was changed from to Unknown Added phenotypes Cerebrotendinous xanthomatosis, CTX, 213700 for gene: CYP27A1

6 Dec 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: CYP27A1 was added gene: CYP27A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: CYP27A1 was set to