rs371133001

This variant is located in the SBDS gene.

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ClinVar annotation

Likely Pathogenic★☆☆☆
1 submitter2 publications

Shwachman-Diamond syndrome 1

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Research that mentions this SNP (1)

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Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities
Case reportN=115Göran Carlsson et al.(2009)· Pediatric Blood & Cancer

A prospective study of 115 patients with hypoplastic bone marrow failure syndromes using whole exome sequencing and targeted NGS panel testing identified pathogenic variants in 54% (62/115) of cases. Genomic characterization changed diagnostic categorization in 26% of patients, including reclassification from acquired to inherited causes. Multiple novel pathogenic variants were identified in TERT, FANCA, RPS7, and SAMD9 genes.

Traits studied:Aplastic anemiaAtaxia-pancytopenia syndromeBone marrow failure syndromesDiamond-Blackfan anemiaDyskeratosis congenitaFanconi anemiaHypoplastic bone marrow failureMyelodysplastic syndromeSevere congenital neutropeniaShwachman-Diamond syndrome
PubMedDOIMetascience Observatory

About SBDS

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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