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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

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
203
Likely pathogenic
2
VUS
1,761
Likely benign
6,341
Benign
763

Patient phenotypes

Proportions of phenotypes among 198 patients carrying pathogenic or likely pathogenic variants on SBDS gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
35.9%
Abnormality of the musculoskeletal system
27.8%
Abnormality of the cardiovascular system
19.2%
Abnormality of the eye
18.2%
Abnormality of head or neck
17.7%
Abnormality of the ear
16.2%
Abnormality of the integument
12.6%
Growth abnormality
11.6%
Abnormality of the genitourinary system
11.1%
Abnormality of limbs
7.1%
Abnormality of the digestive system
7.1%
Abnormality of the immune system
5.6%
Abnormality of the respiratory system
4.5%
Abnormality of blood and blood-forming tissues
3.5%
Neoplasm
2%
Abnormality of the breast
1.5%
Abnormal cellular phenotype
1%
Constitutional symptom
1%
Abnormality of prenatal development or birth
0.5%
Abnormality of the endocrine system
0.5%
Abnormality of the voice
0.5%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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