Peroxisomal disordersGene: CBS
Comment on list classification: Phenotype associated with this gene is not relevant to the Peroxisomal disorders panel (Richard Scott)
Created: 7 Sep 2016, 8:31 a.m.
Associated with phenotype in OMIM and G2P. Numerous variants reported. Clinical opinion (Richard Scott) is that this phenotype is not relevant to this panel
Created: 7 Sep 2016, 8:10 a.m.
The acatalasemia phenotype is incorrectly associated with this gene on the Radboud metabolic disorders panel - the correct phenotypes associated in OMIM are Homocystinuria, B6-responsive and nonresponsive types and Thrombosis, hyperhomocysteinemic
Created: 21 Jul 2016, 10:01 a.m.
Promoted to V1 3rd October 2016
This gene has been classified as Red List (Low Evidence).
CBS was added to Peroxisomal disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN
Phenotypes for gene CBS were set to Homocystinuria, B6-responsive and nonresponsive types 236200; Thrombosis, hyperhomocysteinemic 236200
Model of inheritance for gene CBS was set to BIALLELIC, autosomal or pseudoautosomal
CBS was created by sleigh
CBS was added to Peroxisomal disorderspanel. Sources: Radboud University Medical Center, Nijmegen