CBS - Gene browser

CBS

cystathionine beta-synthase

HCNC Approved Symbol: CBS (HGNC:1550)
Genomic Coordinates: 21:43,053,191 - 43,076,873 (21q22.3)
Synonyms: HIP4
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

13Patients

In total, 13 patients were diagnosed with a variant in the CBS gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

013
Patient count

Homocystinuria: 4 (30.8%)
Patient Count: 4 (30.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (30.8%)
Lens subluxation: 3 (23.1%)
Patient Count: 3 (23.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (23.1%)
Intellectual disability: 3 (23.1%)
Patient Count: 3 (23.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (23.1%)
Hyperhomocystinemia: 2 (15.4%)
Patient Count: 2 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (15.4%)
Hypermethioninemia: 2 (15.4%)
Patient Count: 2 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (15.4%)