Miscellaneous Metabolic Disorders
Gene: CBS
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 GMSCreated: 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
Variants in this GENE are reported as part of current diagnostic practice
Well established gene-disease associationCreated: 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
Phenotypes for gene: CBS were changed from Homocystinuria, B6-responsive and nonresponsive types MIM#236200; disorder of intracellular cobalamin metabolism to Homocystinuria, B6-responsive and nonresponsive types MIM#236200; disorder of intracellular cobalamin metabolism; metabolic disorder of sulfur metabolism
Tag treatable tag was added to gene: CBS.
Gene: cbs has been classified as Green List (High Evidence).
Gene: cbs has been classified as Green List (High Evidence).
gene: CBS was added gene: CBS was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CBS were set to 7967489 Phenotypes for gene: CBS were set to Homocystinuria, B6-responsive and nonresponsive types MIM#236200; disorder of intracellular cobalamin metabolism Review for gene: CBS was set to GREEN gene: CBS was marked as current diagnostic