SBDS

Chr 7AR

SBDS ribosome maturation factor

Also known as: CGI-97, SDO1, SDS, SWDS

NCBI Gene: 51119ENSG00000126524UniProt: Q9Y3A5OMIM: 607444

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. [provided by RefSeq, Jan 2017]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{Aplastic anemia, susceptibility to}MIM #609135
Shwachman-Diamond syndrome 1MIM #260400
AR

Clinical highlights

Gene-disease validity (ClinGen)
Shwachman-Diamond syndrome · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
2
Active trials
71
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.23
LOEUF
LOF
Mechanism· G2P
📖
GeneReview available — SBDS
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.23LOEUF
pLI 0.000
Z-score 1.02
OE 0.68 (0.40–1.23)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.59Z-score
OE missense 0.85 (0.73–1.00)
112 obs / 131.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.68 (0.40–1.23)
0≤0.351.4
Missense OE?0.85 (0.73–1.00)
0≤0.61.4
Synonymous OE?1.22
0≤1.21.6
LoF obs/exp: 8 / 11.8Missense obs/exp: 112 / 131.1Syn Z: -1.20

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SBDS · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients