SBDS Chromosome 7
SBDS ribosome maturation factor
Upload your DNA to see your personal genotypes for variants in SBDS.
What This Gene Does
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]
Gene Info
Gene Group
Ribosomal biogenesis factors
Locus Type
gene with protein product
Location
7q11.21
Ensembl
ENSG00000126524
Associated Conditions (28)
Shwachman-Diamond syndrome 1
Aplastic anemia
Inborn genetic diseases
Melanoma
SBDS-related disorder
Shwachman syndrome
susceptibility to
Microcephaly
Splenomegaly
Agenesis of permanent teeth
Deeply set eye
Short stature
Lymphoma
Ovarian serous cystadenocarcinoma
Thyroid cancer
nonmedullary
1
Acute myeloid leukemia
Cervical cancer
Ovarian cancer
+8 more conditions
Key Variants
RS113993996
Conflicting classifications of pathogenicity
Shwachman-Diamond syndrome 1, Aplastic anemia, Shwachman-Diamond syndrome 1
Health Risk
RS147652512
Conflicting classifications of pathogenicity
Health Risk
RS201070132
Conflicting classifications of pathogenicity
Shwachman-Diamond syndrome 1, Inborn genetic diseases, Shwachman-Diamond syndrome 1
Health Risk
RS757497272
Conflicting classifications of pathogenicity
Shwachman-Diamond syndrome 1, Aplastic anemia, Shwachman-Diamond syndrome 1
Health Risk
RS760364037
Conflicting classifications of pathogenicity
Shwachman-Diamond syndrome 1, Melanoma, Shwachman-Diamond syndrome 1
Health Risk
RS766277488
Conflicting classifications of pathogenicity
Shwachman-Diamond syndrome 1, Shwachman-Diamond syndrome 1
Health Risk
RS774976459
Conflicting classifications of pathogenicity
Aplastic anemia, Shwachman-Diamond syndrome 1, Aplastic anemia
Health Risk
RS779179610
Conflicting classifications of pathogenicity
Shwachman-Diamond syndrome 1, Shwachman-Diamond syndrome 1
Health Risk
RS1131691842
Likely pathogenic
Aplastic anemia, Aplastic anemia
Health Risk
RS113993997
Likely pathogenic
Shwachman-Diamond syndrome 1, Aplastic anemia, Shwachman-Diamond syndrome 1
Health Risk
RS1376011266
Likely pathogenic
Aplastic anemia, Shwachman-Diamond syndrome 1, Aplastic anemia
Health Risk
RS1387962158
Likely pathogenic
Shwachman-Diamond syndrome 1, Shwachman-Diamond syndrome 1
Health Risk
All Variants (47)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113993996 | Health Risk | Conflicting classifications of pathogenicity | Shwachman-Diamond syndrome 1, Aplastic anemia, Shwachman-Diamond syndrome 1 |
| RS147652512 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201070132 | Health Risk | Conflicting classifications of pathogenicity | Shwachman-Diamond syndrome 1, Inborn genetic diseases, Shwachman-Diamond syndrome 1 |
| RS757497272 | Health Risk | Conflicting classifications of pathogenicity | Shwachman-Diamond syndrome 1, Aplastic anemia, Shwachman-Diamond syndrome 1 |
| RS760364037 | Health Risk | Conflicting classifications of pathogenicity | Shwachman-Diamond syndrome 1, Melanoma, Shwachman-Diamond syndrome 1 |
| RS766277488 | Health Risk | Conflicting classifications of pathogenicity | Shwachman-Diamond syndrome 1, Shwachman-Diamond syndrome 1 |
| RS774976459 | Health Risk | Conflicting classifications of pathogenicity | Aplastic anemia, Shwachman-Diamond syndrome 1, Aplastic anemia |
| RS779179610 | Health Risk | Conflicting classifications of pathogenicity | Shwachman-Diamond syndrome 1, Shwachman-Diamond syndrome 1 |
| RS1131691842 | Health Risk | Likely pathogenic | Aplastic anemia, Aplastic anemia |
| RS113993997 | Health Risk | Likely pathogenic | Shwachman-Diamond syndrome 1, Aplastic anemia, Shwachman-Diamond syndrome 1 |
| RS1376011266 | Health Risk | Likely pathogenic | Aplastic anemia, Shwachman-Diamond syndrome 1, Aplastic anemia |
| RS1387962158 | Health Risk | Likely pathogenic | Shwachman-Diamond syndrome 1, Shwachman-Diamond syndrome 1 |
| RS1411636529 | Health Risk | Likely pathogenic | Shwachman-Diamond syndrome 1, Aplastic anemia, Shwachman-Diamond syndrome 1 |
| RS1554341061 | Health Risk | Likely pathogenic | — |
| RS1584437592 | Health Risk | Likely pathogenic | Shwachman-Diamond syndrome 1, Shwachman-Diamond syndrome 1 |
| RS1584438908 | Health Risk | Likely pathogenic | — |
| RS1793080553 | Health Risk | Likely pathogenic | Aplastic anemia, Aplastic anemia |
| RS2129231218 | Health Risk | Likely pathogenic | Shwachman-Diamond syndrome 1, Shwachman-Diamond syndrome 1 |
| RS2536928737 | Health Risk | Likely pathogenic | Aplastic anemia, Aplastic anemia |
| RS2536930168 | Health Risk | Likely pathogenic | Aplastic anemia, Aplastic anemia |
| RS2536930205 | Health Risk | Likely pathogenic | Aplastic anemia, Aplastic anemia |
| RS2536932319 | Health Risk | Likely pathogenic | Aplastic anemia, Aplastic anemia |
| RS2536932390 | Health Risk | Likely pathogenic | Aplastic anemia, Aplastic anemia |
| RS369175778 | Health Risk | Likely pathogenic | Aplastic anemia, Aplastic anemia |
| RS371133001 | Health Risk | Likely pathogenic | Shwachman-Diamond syndrome 1, Shwachman-Diamond syndrome 1 |
| RS752809798 | Health Risk | Likely pathogenic | Aplastic anemia, Aplastic anemia |
| RS771720952 | Health Risk | Likely pathogenic | — |
| RS775057252 | Health Risk | Likely pathogenic | Aplastic anemia, Aplastic anemia |
| RS113993990 | Health Risk | Pathogenic | Shwachman-Diamond syndrome 1, Aplastic anemia, Shwachman-Diamond syndrome 1 |
| RS113993991 | Health Risk | Pathogenic | Shwachman-Diamond syndrome 1, Inborn genetic diseases, Aplastic anemia |
| RS113993992 | Health Risk | Pathogenic | Shwachman-Diamond syndrome 1, Aplastic anemia, Inborn genetic diseases |
| RS113993994 | Health Risk | Pathogenic | Shwachman-Diamond syndrome 1, Aplastic anemia, SBDS-related disorder |
| RS1490467134 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1584439050 | Health Risk | Pathogenic | Shwachman-Diamond syndrome 1, Aplastic anemia, Shwachman-Diamond syndrome 1 |
| RS1792914342 | Health Risk | Pathogenic | Shwachman-Diamond syndrome 1, Shwachman-Diamond syndrome 1 |
| RS1792969582 | Health Risk | Pathogenic | Shwachman-Diamond syndrome 1, Inborn genetic diseases, Shwachman-Diamond syndrome 1 |
| RS1793014648 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2536926049 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2536928013 | Health Risk | Pathogenic | Shwachman-Diamond syndrome 1, Shwachman-Diamond syndrome 1 |
| RS2536932418 | Health Risk | Pathogenic | Aplastic anemia, Shwachman-Diamond syndrome 1, Aplastic anemia |
| RS2536932431 | Health Risk | Pathogenic | Shwachman-Diamond syndrome 1, Shwachman-Diamond syndrome 1 |
| RS745661722 | Health Risk | Pathogenic | Shwachman-Diamond syndrome 1, Aplastic anemia, Shwachman-Diamond syndrome 1 |
| RS113993993 | Health Risk | Pathogenic/Likely pathogenic | Aplastic anemia, susceptibility to, Shwachman-Diamond syndrome 1 |
| RS113993998 | Health Risk | Pathogenic/Likely pathogenic | Shwachman-Diamond syndrome 1, Aplastic anemia, Shwachman-Diamond syndrome 1 |
| RS120074160 | Health Risk | Pathogenic/Likely pathogenic | Splenomegaly, Microcephaly, Deeply set eye |
| RS373730800 | Health Risk | Pathogenic/Likely pathogenic | Shwachman-Diamond syndrome 1, Aplastic anemia, Shwachman-Diamond syndrome 1 |
| RS772797192 | Health Risk | Pathogenic/Likely pathogenic | Shwachman-Diamond syndrome 1, Aplastic anemia, Shwachman-Diamond syndrome 1 |