Hereditary Neuropathy - complex
Gene: CYP27A1

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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established gene-disease association (see OMIM entry). Cerebrotendinous xanthomatosis is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders) and is an inborn error of bile acid metabolism.
Sources: NHS GMS
Created: 3 Feb 2021, 12:54 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebrotendinous xanthomatosis MIM#213700; Disorders of bile acid biosynthesis

Publications

2019602

Variants in this GENE are reported as part of current diagnostic practice

Created: 3 Feb 2021, 12:54 a.m.

Panel version: Imported from Miscellaneous Metabolic Disorders panel version 0.117

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS
Expert Review Green
Royal Melbourne Hospital

Phenotypes

HMSN
Cholestanol storage disease

OMIM

606530

Clinvar variants

Variants in CYP27A1

Penetrance

None

Panels with this gene

History Filter Activity

13 Jan 2020, 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 Hereditary Neuropathy - 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 HMSN; Cholestanol storage disease

Hereditary Neuropathy - complex Gene: CYP27A1