Leukodystrophy - adult onset
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

Kaitlyn Dianna Weldon (University of Melbourne)

Green List (high evidence)

This is a well-established gene with leukodystrophy features
Created: 8 Sep 2023, 1:38 a.m. | Last Modified: 8 Sep 2023, 1:38 a.m.

Panel Version: 0.109

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
cerebrotendinous xanthomatosis MONDO:0008948

Publications

20301583

Created: 8 Sep 2023, 1:38 a.m.
Last Modified: 8 Sep 2023, 1:38 a.m.
Panel version: 0.109

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Royal Melbourne Hospital
Expert Review Green

Phenotypes

Cerebrotendinous xanthomatosis, 213700

OMIM

606530

Clinvar variants

Variants in CYP27A1

Penetrance

None

Panels with this gene

History Filter Activity

30 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 Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis, 213700

Leukodystrophy - adult onset Gene: CYP27A1