CBS

cystathionine-beta-synthase
OMIM: 613381, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Red CBS in Peroxisomal disorders Level 3: Peroxisomal disorders Level 2: Metabolic disorders Version 1.20	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Phenotypes Homocystinuria, B6-responsive and nonresponsive types 236200 Thrombosis, hyperhomocysteinemic 236200
Red CBS in Cerebral vascular malformations Level 2: Neurology Version 4.10 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature
Red CBS in Bilateral congenital or childhood onset cataracts Level 2: Ophthalmology Version 7.6 Latest signed off version: v7.0 (30 Apr 2025)	review	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
Green CBS in Thoracic aortic aneurysm or dissection (GMS) Level 2: Cardiology Version 4.5 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green South West GLH South West GLH Phenotypes Marfan syndrome Homocystinuria, B6-responsive and nonresponsive types, 236200
Amber CBS in Thoracic aortic aneurysm or dissection Level 3: Connective tissue disorders and aortopathies Level 2: Cardiovascular disorders Version 1.129	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber South West GLH Expert list Emory Genetics Laboratory Phenotypes Marfan syndrome
Green CBS in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services UKGTN Literature Phenotypes Homocystinuria, B6-responsive and nonresponsive types 236200 Thrombosis, hyperhomocysteinemic 236200 Tags treatable
Green CBS in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Homocystinuria, B6-responsive and nonresponsive types
Green CBS in Ehlers Danlos syndrome with a likely monogenic cause Level 2: Musculoskeletal Version 4.6 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS UKGTN Illumina TruGenome Clinical Sequencing Services Expert list Emory Genetics Laboratory Phenotypes Homocystinuria, B6-responsive and nonresponsive types, OMIM:236200 Tags treatable
Red CBS in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
Green CBS in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CYSTATHIONINE BETA-SYNTHASE DEFICIENCY 236200
Green CBS in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Homocystinuria, B6-responsive and nonresponsive types, 236200 Thrombosis, hyperhomocysteinemic, 236200 CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (CBSD)
Green CBS in Structural eye disease Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Homocystinuria, B6-responsive and nonresponsive types (includes ectopia lentis), 236200
Red CBS in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH