Undiagnosed metabolic disordersGene: CYP7B1
Treatable 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: 31337596
Created: 19 Sep 2019, 2:46 p.m. | Last Modified: 19 Sep 2019, 2:46 p.m.
Panel Version: 1.287
Comment on list classification: 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: 19 Sep 2019, 2:40 p.m. | Last Modified: 19 Sep 2019, 2:40 p.m.
Panel Version: 1.286
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 2 variants reported in Bile acid synthesis defect, congenital, 3 (numerous variants reported in Spastic paraplegia 5A, autosomal recessive 270800)
Created: 12 Jan 2017, 11:03 a.m.
Comment on phenotypes: Also associated with Spastic paraplegia 5A, autosomal recessive 270800
Created: 12 Jan 2017, 10:59 a.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 1:56 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia
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 Amber List (Moderate Evidence).
Publications for gene: CYP7B1 were set to 27604308 9802883 18252231 19187859
Publications for gene: CYP7B1 were set to 9802883; 27604308
Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added
This gene has been classified as Amber List (Moderate Evidence).
CYP7B1 was added to Undiagnosed metabolic disorderspanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Phenotypes for CYP7B1 were set to Bile acid synthesis defect, congenital, 3 613812
Publications for CYP7B1 were set to 9802883; 27604308
CYP7B1 was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Amber Model of inheritance for gene CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal
CYP7B1 was created by sleigh
CYP7B1 was added to Undiagnosed metabolic disorderspanel. Sources: Literature