Inherited white matter disorders
Gene: CYP7B1
CYP7B1 (cytochrome P450 family 7 subfamily B member 1)
EnsemblGeneIds (GRCh38): ENSG00000172817
EnsemblGeneIds (GRCh37): ENSG00000172817
OMIM: 603711, Gene2Phenotype
CYP7B1 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000172817
EnsemblGeneIds (GRCh37): ENSG00000172817
OMIM: 603711, Gene2Phenotype
CYP7B1 is in 13 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)
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
Publications
- MIM#270800
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Spastic paraplegia 5A, autosomal recessive, OMIM:270800
- OMIM
- 603711
- Clinvar variants
- Variants in CYP7B1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary spastic paraplegia
- Adult onset leukodystrophy
- Adult onset hereditary spastic paraplegia
- Neonatal cholestasis
- Inherited white matter disorders
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Cholestasis
History Filter Activity
7 Jun 2021, Gel status: 1
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: CYP7B1 were set to MIM#270800
7 Jun 2021, Gel status: 1
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CYP7B1 were changed from to Spastic paraplegia 5A, autosomal recessive, OMIM:270800
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
Created
Zornitza Stark (Australian Genomics)CYP7B1 was created by Zornitza Stark