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Article

Biallelic TMEM126B Variants as a Novel Cause of Kidney Failure-Implications for Mitochondrial Genetic Testing in Nephrology: A Response Letter.

Clinical genetics - 1 Sept 2026

Hammond Sarah, Connaughton Dervla M

Abstract excerpt

Graphical abstract illustrating the clinical presentation, molecular mechanism, and diagnostic implications of biallelic TMEM126B variants associated with progressive kidney disease. The case involved a 47-year-old male with childhood exercise intolerance, possible hypertrophic cardiomyopathy, and progressive kidney failure. Initial comprehensive inherited kidney disease panel testing was nondiagnostic;...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42357964
DOI: 10.1111/cge.70202
PMCID: PMC13431714

Genes

TMEM126B

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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