Peroxisomal disorders

Gene: CBS

Red List (low evidence)

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.

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.

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

History Filter Activity

3 Oct 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 3rd October 2016

7 Sep 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

23 Aug 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

CBS was added to Peroxisomal disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN

23 Aug 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene CBS were set to Homocystinuria, B6-responsive and nonresponsive types 236200; Thrombosis, hyperhomocysteinemic 236200

23 Aug 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene CBS was set to BIALLELIC, autosomal or pseudoautosomal

19 Aug 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

CBS was added to Peroxisomal disorderspanel. Sources: Radboud University Medical Center, Nijmegen

19 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

CBS was created by sleigh