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Prepair 1000+

Gene: CBS

Amber List (moderate evidence)

CBS (cystathionine-beta-synthase)
EnsemblGeneIds (GRCh38): ENSG00000160200
EnsemblGeneIds (GRCh37): ENSG00000160200
OMIM: 613381, Gene2Phenotype
CBS is in 15 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Currently excluded for technical reasons. Monitor status as technology evolves.
Created: 25 Mar 2025, 7:48 a.m. | Last Modified: 25 Mar 2025, 7:48 a.m.
Panel Version: 1.1808

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
classic homocystinuria, MONDO:0009352

Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)

I don't know

Well-established gene-disease association.

Homocystinuria caused by cystathionine β-synthase (CBS) deficiency is characterized by involvement of the eye (ectopia lentis and/or severe myopia), skeletal system (excessive height, long limbs, scolioisis, and pectus excavatum), vascular system (thromboembolism), and CNS (developmental delay/intellectual disability). All four ‒ or only one ‒ of the systems can be involved; expressivity is variable.


HGNC approved symbol/name: CBS
Is the phenotype(s) severe and onset <18yo ? Y
Known technical challenges? Y : Technically challenging using NGS (mapability issues) that may be overcome in the future (WGS)
Gene reported in >3 independent families
Created: 3 Sep 2024, 11:44 p.m. | Last Modified: 3 Sep 2024, 11:44 p.m.
Panel Version: 1.248

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Homocystinuria, B6-responsive and nonresponsive types; Thrombosis, hyperhomocysteinemic MIM#236200; classic homocystinuria, MONDO:0009352

Publications

History Filter Activity

25 Mar 2025, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cbs has been classified as Amber List (Moderate Evidence).

25 Mar 2025, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CBS were changed from Homocystinuria, B6-responsive and nonresponsive types, 236200 (3) to Homocystinuria, B6-responsive and nonresponsive types, MIM#236200

25 Mar 2025, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CBS were set to

25 Mar 2025, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cbs has been classified as Amber List (Moderate Evidence).

1 Jun 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CBS was added gene: CBS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CBS were set to Homocystinuria, B6-responsive and nonresponsive types, 236200 (3)