White matter disorders and cerebral calcification - narrow panel
Gene: CYP7B1
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
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
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
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
Tag Q3_22_rating was removed from gene: CYP7B1. Tag Q3_22_expert_review was removed from gene: CYP7B1.
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)
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.
Tag Q2_21_expert_review tag was added to gene: CYP7B1.
Publications for gene: CYP7B1 were set to MIM#270800
Gene: cyp7b1 has been classified as Red List (Low Evidence).
Phenotypes for gene: CYP7B1 were changed from to Spastic paraplegia 5A, autosomal recessive , OMIM:270800
Checked against super panel made up of the panel constituents. Ready to promote to version 1
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