1. Panels
  2. Dystonia - complex
  3. CYP27A1
STRs in panel
Prev Next
Regions in panel
Prev Next

Dystonia - complex

Gene: CYP27A1

Green List (high evidence)
CYP27A1 (cytochrome P450 family 27 subfamily A member 1)
EnsemblGeneIds (GRCh38): ENSG00000135929
EnsemblGeneIds (GRCh37): ENSG00000135929
OMIM: 606530, Gene2Phenotype
CYP27A1 is in 22 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Dystonia, specifically oromandibular dystonia is part of the phenotype of this progressive neurological condition.
Created: 5 Sep 2020, 4:55 a.m. | Last Modified: 5 Sep 2020, 4:55 a.m.
Panel Version: 0.85

Phenotypes
Cerebrotendinous xanthomatosis, MIM# 213700

Publications

Created: 5 Sep 2020, 4:55 a.m.
Last Modified: 5 Sep 2020, 4:55 a.m.
Panel version: 0.85

History Filter Activity

5 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cyp27a1 has been classified as Green List (High Evidence).

5 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CYP27A1 were changed from Cholestanol storage disease; Dystonia to Cerebrotendinous xanthomatosis, MIM# 213700; Cholestanol storage disease; Dystonia

5 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CYP27A1 were set to

27 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CYP27A1 was added gene: CYP27A1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP27A1 were set to Cholestanol storage disease; Dystonia