Peroxisomal disorders
Gene: CBS

CBS (cystathionine-beta-synthase)
EnsemblGeneIds (GRCh38): ENSG00000160200
EnsemblGeneIds (GRCh37): ENSG00000160200
OMIM: 613381, Gene2Phenotype
CBS is in 13 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

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.

Created: 7 Sep 2016, 8:11 a.m.

Panel version: 0.110

Ellen McDonagh (Genomics England Curator)

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.

Created: 21 Jul 2016, 10:01 a.m.

Panel version: Imported from "Other peroxisomal disorders" panel version 0.0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Emory Genetics Laboratory
Illumina TruGenome Clinical Sequencing Services
UKGTN
Radboud University Medical Center, Nijmegen

Phenotypes

Homocystinuria, B6-responsive and nonresponsive types 236200
Thrombosis, hyperhomocysteinemic 236200

OMIM

613381

Clinvar variants

Variants in CBS

Penetrance

Complete

Panels with this gene