Inherited white matter disorders

Gene: CYP7B1

Red List (low evidence)

CYP7B1 (cytochrome P450 family 7 subfamily B member 1)
EnsemblGeneIds (GRCh38): ENSG00000172817
EnsemblGeneIds (GRCh37): ENSG00000172817
OMIM: 603711, Gene2Phenotype
CYP7B1 is in 14 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene is awaiting curator evaluation and rating.
Created: 19 Dec 2018, 1:02 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Leukodystrophy is a well recognised feature of this disorder, multiple reported families.
Created: 23 Jul 2018, 8:17 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal


  • MIM#270800

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

History Filter Activity

19 Dec 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: cyp7b1 has been classified as Red List (Low Evidence).

23 Jul 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

CYP7B1 was added to Inherited white matter disorders panel. Sources: Literature

23 Jul 2018, Gel status: 0


Zornitza Stark (Australian Genomics)

CYP7B1 was created by Zornitza Stark