Home > Gene Browser > SBDS

SBDS

Synonyms
CGI-97, SDO1, SDS, SWDS
External resources
Summary
This gene encodes a highly conserved protein that plays an essential role in ribosome biogenesis. The encoded protein interacts with elongation factor-like GTPase 1 to disassociate eukaryotic initiation factor 6 from the late cytoplasmic pre-60S ribosomal subunit allowing assembly of the 80S subunit. Mutations within this gene are associated with the autosomal recessive disorder Shwachman-Bodian-Diamond syndrome. This gene has a closely linked pseudogene that is distally located.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
119
Likely pathogenic
0
VUS
701
Likely benign
432
Benign
621

Patient phenotypes

Proportions of phenotypes among 118 patients carring pathogenic or likely pathogenic variants on SBDS gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.4%
Abnormality of the musculoskeletal system
33.9%
Abnormality of head or neck
22%
Abnormality of the eye
19.5%
Abnormality of the ear
18.6%
Growth abnormality
16.9%
Abnormality of the cardiovascular system
15.3%
Abnormality of the integument
13.6%
Abnormality of the genitourinary system
10.2%
Abnormality of limbs
8.5%
Abnormality of the immune system
7.6%
Abnormality of the digestive system
6.8%
Abnormality of the respiratory system
5.9%
Abnormality of blood and blood-forming tissues
3.4%
Neoplasm
2.5%
Abnormal cellular phenotype
1.7%
Abnormality of the endocrine system
1.7%
Constitutional symptom
1.7%
Abnormality of prenatal development or birth
0.8%
Abnormality of the breast
0.8%
Abnormality of the voice
0.8%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes