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Cataracts

Gene: CBS

Red List (low evidence)

CBS (cystathionine-beta-synthase)
EnsemblGeneIds (GRCh38): ENSG00000160200
EnsemblGeneIds (GRCh37): ENSG00000160200
OMIM: 613381, Gene2Phenotype
CBS is in 14 panels

3 reviews

Ellen Thomas (Genomics England Curator)

Comment on list classification: Cataracts not part of this phenotype.
Created: 7 Jun 2016, 12:36 p.m.

Sarah Waller (Manchester Centre for Genomic Medicine)

I don't know

Many reports of mutations associated with ocular disorders, espsecially ectopia lentis, in CBS patients
Created: 25 May 2016, 8:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Homocystinuria, AR

Publications

  • Many on HGMD

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Is on the Manchester congenital cataracts gene panel, and is a confirmed DD gene for Cystathione Beta-synthase deficiency.
Created: 29 Apr 2016, 9:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Homocystinuria B6-responsive and nonresponsive types; confirmed DD gene for CYSTATHIONINE BETA-SYNTHASE DEFICIENCY

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Homocystinuria, AR
  • Homocystinuria B6-responsive and nonresponsive types
  • confirmed DD gene for CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
OMIM
613381
Clinvar variants
Variants in CBS
Penetrance
Complete
Publications
  • Many on HGMD
Panels with this gene

History Filter Activity

7 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

7 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

2 Jun 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for CBS were set to Many on HGMD

25 May 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for CBS were set to Homocystinuria, AR; Homocystinuria B6-responsive and nonresponsive types; confirmed DD gene for CYSTATHIONINE BETA-SYNTHASE DEFICIENCY

25 May 2016, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for CBS was changed to BIALLELIC, autosomal or pseudoautosomal

13 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

CBS was added to Cataractspanel. Sources: UKGTN