White matter disorders and cerebral calcification - narrow panel
Gene: CYP7B1EnsemblGeneIds (GRCh38): ENSG00000172817
EnsemblGeneIds (GRCh37): ENSG00000172817
OMIM: 603711, Gene2Phenotype
CYP7B1 is in 13 panels
4 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.
Panel Version: 2.9
Eleanor Williams (Genomics England Curator)
Updating tags to be Q3_22_expert_review and Q3_22_rating so that gene is included in the next GMS report (Oct 2022)Created: 5 Oct 2022, 11:17 p.m. | Last Modified: 5 Oct 2022, 11:17 p.m.
Panel Version: 1.244
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, 3:39 p.m. | Last Modified: 7 Jun 2021, 3:41 p.m.
Panel Version: 1.159
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, 3:38 p.m. | Last Modified: 7 Jun 2021, 3:38 p.m.
Panel Version: 1.157
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. Age of onset highly variable, generally in adolescence but onset in early childhood reported.Created: 15 Sep 2020, 10:06 a.m. | Last Modified: 15 Sep 2020, 10:06 a.m.
Panel Version: 1.14
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 Green
- NHS GMS
- 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
Removed Tag, Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q3_22_rating was removed from gene: CYP7B1. Tag Q3_22_expert_review was removed from gene: CYP7B1.
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to CYP7B1. Source Expert Review Green was added to CYP7B1. Rating Changed from Red List (low evidence) to Green List (high evidence)
Removed Tag, Added Tag, Added Tag
Eleanor Williams (Genomics England Curator)Tag Q2_21_expert_review was removed from gene: CYP7B1. Tag Q3_22_rating tag was added to gene: CYP7B1. Tag Q3_22_expert_review tag was added to gene: CYP7B1.
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q2_21_expert_review tag was added to gene: CYP7B1.
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: CYP7B1 were set to MIM#270800
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: cyp7b1 has been classified as Red List (Low Evidence).
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CYP7B1 were changed from to Spastic paraplegia 5A, autosomal recessive , OMIM:270800
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
Created, Added New Source, Set mode of inheritance, Set publications
Ellen McDonagh (Genomics England Curator)gene: CYP7B1 was added gene: CYP7B1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP7B1 were set to MIM#270800