Adult onset leukodystrophy
Gene: CYP7B1EnsemblGeneIds (GRCh38): ENSG00000172817
EnsemblGeneIds (GRCh37): ENSG00000172817
OMIM: 603711, Gene2Phenotype
CYP7B1 is in 13 panels
3 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 1:56 p.m. | Last Modified: 9 Mar 2022, 1:56 p.m.
Panel Version: 1.40
Arina Puzriakova (Genomics England Curator)
Comment on list classification: CYP7B1 will be flagged for GMS review to assess whether the phenotype is appropriate and there is enough potential clinical value to rate as Green on this panel.Created: 7 Jun 2021, 3:42 p.m. | Last Modified: 7 Jun 2021, 3:42 p.m.
Panel Version: 1.14
White matter hyperintensities are a reported feature in a proportion of cases where brain imaging is performed. Variable onset ranging from 1 to 40 years, but truncating variants have been associated with an earlier age at onset.
Sufficient number of unrelated families with white matter lesions (at least 5 in literature - PMIDs: 19187859; 19439420; 24117163) to rate Green on this panel; however, majority of patients do not exhibit these.Created: 7 Jun 2021, 3:41 p.m. | Last Modified: 7 Jun 2021, 3:41 p.m.
Panel Version: 1.13
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 5A, autosomal recessive , OMIM:270800
Publications
Zornitza Stark (Australian Genomics)
White matter lesions have been reported as a feature of the condition in >3 cases.
Sources: Expert listCreated: 21 Jun 2020, 6:18 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 5A, autosomal recessive, MIM# 270800
Publications
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
-
- Adult onset leukodystrophy
- Likely inborn error of metabolism
- Adult onset neurodegenerative disorder
- Cholestasis
- White matter disorders and cerebral calcification - narrow panel
- Undiagnosed metabolic disorders
- Intellectual disability
- Hereditary spastic paraplegia
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- Neonatal cholestasis
- Inherited white matter disorders
- Adult onset hereditary spastic paraplegia
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q2_21_expert_review was removed from gene: CYP7B1.
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: CYP7B1 were set to 24117163; 19439420; 19187859
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: cyp7b1 has been classified as Red List (Low Evidence).
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q2_21_expert_review tag was added to gene: CYP7B1.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CYP7B1 were changed from Spastic paraplegia 5A, autosomal recessive, MIM# 270800 to Spastic paraplegia 5A, autosomal recessive , OMIM:270800
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: CYP7B1 was added gene: CYP7B1 was added to White matter disorders - adult onset. Sources: Expert list Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP7B1 were set to 24117163; 19439420; 19187859 Phenotypes for gene: CYP7B1 were set to Spastic paraplegia 5A, autosomal recessive, MIM# 270800 Review for gene: CYP7B1 was set to GREEN gene: CYP7B1 was marked as current diagnostic