Adult onset leukodystrophy
Gene: CYP7B1The 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
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
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
Tag Q2_21_expert_review was removed from gene: CYP7B1.
Publications for gene: CYP7B1 were set to 24117163; 19439420; 19187859
Gene: cyp7b1 has been classified as Red List (Low Evidence).
Tag Q2_21_expert_review tag was added to gene: CYP7B1.
Phenotypes for gene: CYP7B1 were changed from Spastic paraplegia 5A, autosomal recessive, MIM# 270800 to Spastic paraplegia 5A, autosomal recessive , OMIM:270800
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