Likely inborn error of metabolism - targeted testing not possible
Gene: CYP7B1Treatable tag: the only surviving patient with oxysterol 7α-hydroxylase deficiency recovered from liver failure after chenodeoxycholic acid (CDCA) treatment beginning at 3 months of age PMID: 31337596Created: 19 Sep 2019, 2:47 p.m. | Last Modified: 19 Sep 2019, 2:47 p.m.
Panel Version: 1.267
Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with phenotype in OMIM and not in Gen2Phen. At least 10 variants identified in unrelated cases of Spastic paraplegia 5A, autosomal recessive 270800 and one of these variants was also found in 3 unrelated cases of Bile acid synthesis defect, congenital, 3 613812, which is a more relevant phenotype for metabolic panels.Created: 12 Aug 2019, 2:39 p.m. | Last Modified: 19 Sep 2019, 2:39 p.m.
Panel Version: 1.266
Tag treatable tag was added to gene: CYP7B1.
Publications for gene: CYP7B1 were set to 27604308; 9802883; 18252231; 19187859
Gene: cyp7b1 has been classified as Green List (High Evidence).
Gene: cyp7b1 has been classified as Green List (High Evidence).
Gene: cyp7b1 has been classified as Amber List (Moderate Evidence).
Publications for gene: CYP7B1 were set to 27604308; 9802883
Gene: cyp7b1 has been classified as Green List (High Evidence).
Phenotypes for gene: CYP7B1 were changed from Bile acid synthesis defect, congenital, 3 to Bile acid synthesis defect, congenital, 3 613812; Spastic paraplegia 5A, autosomal recessive 270800
Source NHS GMS was added to CYP7B1. Source London North GLH was added to CYP7B1.
Sarah Leigh: Associated with relevant pheno
gene: CYP7B1 was added gene: CYP7B1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP7B1 were set to 27604308; 9802883 Phenotypes for gene: CYP7B1 were set to Bile acid synthesis defect, congenital, 3