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Article

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

Clinical genetics - 1 Jan 2026

Sentell Zachary T, Cheung Anthony C T, Russo Felicia, Bernard Chantal, Suri Rita, Cybulsky Andrey V, Buhas Daniela, Kitzler Thomas M

Abstract excerpt

An adult with kidney failure had compound-heterozygous TMEM126B variants causing mitochondrial complex I deficiency. This expands TMEM126B to mitochondrial nephropathy and supports including mitochondrial genes in renal genetic testing.

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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: 40970474
DOI: 10.1111/cge.70073
PMCID: PMC12674972

Genes

TMEM126B

Provenance

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

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