Aortopathy_Connective Tissue Disorders

Gene: CBS

Green List (high 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)

Green List (high evidence)

Phenotypic overlap with connective tissue disorders.
Created: 25 Jun 2020, 8:24 a.m. | Last Modified: 25 Jun 2020, 8:24 a.m.
Panel Version: 0.40

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 30071989; Classified as Limited by clingen working group for Heritable Thoracic Aortic Aneurysm and Dissection

Classified as Definitive by clingen for classic homocystinuria (march 2019).
Clingen evidence summary:
21 unique variants were curated (missense, nonsense, frameshift, and splice site) in 15 probands from 8 publications, and 3 of these probands each had 2 affected siblings in whom CBS variants were identified (PMID: 1301198,10408774,7762555,12815602,16307898,25455305,26667307,29508359). More evidence is available in the literature, but the maximum score for genetic evidence (12 points) has been reached. This gene-disease relationship is supported by the biochemical function of CBS, which is consistent with the biochemical features in patients with homocystinuria (including elevated plasma total homocysteine and methionine). In summary, CBS is definitively associated with classic homocystinuria. This has been repeatedly demonstrated in both the research and clinical diagnostic settings, and has been upheld over time.
Created: 25 Jun 2020, 2:12 a.m. | Last Modified: 25 Jun 2020, 2:12 a.m.
Panel Version: 0.26

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Homocystinuria (MIM# 236200)

Publications

History Filter Activity

29 Sep 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: CBS.

25 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cbs has been classified as Green List (High Evidence).

25 Jun 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CBS were changed from to Homocystinuria (MIM# 236200)

25 Jun 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CBS were set to

25 Jun 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CBS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CBS was added gene: CBS was added to Aortopathy, Connective tissue disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CBS was set to Unknown