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Newborns main panel

Gene: CBS

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:39 p.m. | Last Modified: 1 Jun 2023, 2:39 p.m.
Panel Version: 0.137
CBS curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Homocystinuria, B6-responsive and nonresponsive types for gene: CBS

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Homocystinuria, B6-responsive and nonresponsive types for gene: CBS

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Homocystinuria, B6-responsive and nonresponsive types for gene: CBS

5 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Homocystinuria, B6-responsive and nonresponsive types for gene: CBS

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Homocystinuria, B6-responsive and nonresponsive types for gene: CBS

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: CBS was added gene: CBS was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal