Bleeding and Platelet Disorders

Gene: CBS

Green List (high evidence)

Updating this gene to Green List as this panel includes Thrombosis genes and there are already submissions with evidence for gene-disease association for CBS

Created: 29 Apr 2024, 10:18 p.m. | Last Modified: 29 Apr 2024, 10:18 p.m.

Panel Version: 1.38

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Thrombosis; HOMOCYSTINURIA; MIM# 236200

Green List (high evidence)

Well-established gene-disease association (see OMIM entry). Homocystinuria due to CBS deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders) and is an inborn error of cobalamin metabolism.
Sources: NHS GMS

Created: 2 Feb 2021, 11:06 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Homocystinuria, B6-responsive and nonresponsive types MIM#236200; disorder of intracellular cobalamin metabolism

Publications

• 7967489

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

Green List (high evidence)

Thrombosis rather than bleeding.

Created: 11 Aug 2020, 8:33 a.m. | Last Modified: 11 Aug 2020, 8:33 a.m.

Panel Version: 0.44

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Thrombosis, hyperhomocysteinemic, MIM# 236200; Homocystinuria, B6-responsive and nonresponsive types, MIM# 236200

Green List (high evidence)

Well established gene-disease association

Created: 24 Mar 2020, 1:40 a.m. | Last Modified: 24 Mar 2020, 1:40 a.m.

Panel Version: 0.1827

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

• 7506602
• 10338090