SBDS - Gene browser

SBDS

SBDS ribosome maturation factor

HCNC Approved Symbol: SBDS (HGNC:19440)
Genomic Coordinates: 7:66,987,680 - 66,995,586 (7q11.21)
Synonyms: CGI-97, FLJ10917, SDS, SWDS, SDO1
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

20Patients

In total, 20 patients were diagnosed with a variant in the SBDS gene.

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

020
Patient count

Neutropenia: 6 (30.0%)
Patient Count: 6 (30.0%)
% of total patients presenting each phenotype is shown in parentheses.
6 (30.0%)
Bone marrow hypocellularity: 5 (25.0%)
Patient Count: 5 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
5 (25.0%)
Thrombocytopenia: 4 (20.0%)
Patient Count: 4 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (20.0%)
Failure to thrive: 4 (20.0%)
Patient Count: 4 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (20.0%)
Immunodeficiency: 4 (20.0%)
Patient Count: 4 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (20.0%)