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sick sinus syndrome 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

sick sinus syndrome 4

MONDO:0859173

Overview

GeneticsAutosomal dominant · GNB2 (chr 7)

OnsetADULT

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Atrioventricular block; and common findings: Sinus bradycardia. 10 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	4	Paroxysmal atrial fibrillation, Atrioventricular block, Sudden cardiac death

Age of onset: adulthood.

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

GNB2 encodes G protein subunit beta 2 (340 aa). Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. Highest expression in Whole Blood (425.1 TPM) and Skin Sun Exposed Lower leg (306.9 TPM).

Sick sinus syndrome 4 is associated with mutations in the GNB2 gene on chromosome 7.

The GNB2 protein participates in Partially folded GNB2, G-protein beta 1-4 subunit, and Partially folded G-protein beta 1-4 pathways.

GNB2 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for GNB2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for sick sinus syndrome 4 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 very common feature, 1 common feature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for sick sinus syndrome 4.

78 publications have been identified in PubMed for sick sinus syndrome 4. Research spans Clinical Trial Publication (38%), Case Report / Case Series (22%), and Basic Science / Preclinical (17%).

Research Type	Count	% of Total
Clinical study results	30	38%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619464

Questions for Your Care Team

→Should I pursue genetic testing for GNB2, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

sick sinus syndrome 4

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

sick sinus syndrome 4

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications