Aortopathy_Connective Tissue Disorders
Gene: CBS
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
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
Tag treatable tag was added to gene: CBS.
Gene: cbs has been classified as Green List (High Evidence).
Phenotypes for gene: CBS were changed from to Homocystinuria (MIM# 236200)
Publications for gene: CBS were set to
Mode of inheritance for gene: CBS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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