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Symptom Prevalence and Genotype-Phenotype Correlations in Patients With TANGO2-Related Metabolic Encephalopathy and Arrhythmias (TRMEA)

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Variable clinical severity in TANGO2 deficiency: Case series and literature review

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Defects in lipid homeostasis reflect the function of TANGO2 in phospholipid and neutral lipid metabolism

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B‐complex vitamins for patients with TANGO2 ‐deficiency disorder

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De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities

Okur, V., Chen, Z., Vossaert, L., Peacock, S., Rosenfeld, J. A., Zhao, L., Du, H., Calamaro, E., Gerard, A., Zhao, S., et al. (2021) · npj Genomic Medicine · doi:10.1038/s41525-021-00268-8 · Cited by 29 · see citing works

Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease–associated loci for BAFopathies

Chen, C., Lattier, J., Zhu, W., Rosenfeld, J. A., Wang, L., Scott, T. M., Du, H., Patel, V., Dang, A., Magoulas, P. L., et al. (2021) · Genetics in Medicine · doi:10.1016/j.gim.2021.09.017 · Cited by 25 · see citing works

Homozygous TANGO2 Single Nucleotide Variants Presenting with Additional Manifestations Resembling Alternating Hemiplegia of Childhood–Expanding the Phenotype of a Recently Reported Condition

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Clinical phenotype associated with TANGO2 gene mutation

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Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child

Streff, H. E., Bi, W., Colón, A. G., Adesina, A. M., Miyake, C. Y., & Lalani, S. R. (2018) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2018.11.001 · Cited by 21 · see citing works

Recent advances in our understanding of genetic rhabdomyolysis

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Clinical genomics: from a truly personal genome viewpoint

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Early initiation of B ‐vitamin supplementation may reduce symptoms and explain intrafamilial variability: Insights from two sibling pairs from the TANGO2 natural history study

Miyake, C. Y., Ehsan, S. A., Zhang, L., Mackenzie, S., Azamian, M. S., Scott, D. A., Hernández, A., & Lalani, S. R. (2023) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.63331 · Cited by 17 · see citing works

Intrinsic and extrinsic regulation of rhabdomyolysis susceptibility by Tango2

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Electrical storm treated successfully in a patient with TANGO2 gene mutation and long QT syndrome: A case report

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Impaired coenzyme A homeostasis in cardiac dysfunction and benefits of boosting coenzyme A production with vitamin B5 and its derivatives in the management of heart failure

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Clinical Features of Acute Rhabdomyolysis in 55 Pediatric Patients

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Familial Autonomic Ganglionopathy Caused by Rare CHRNA3 Genetic Variants

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Lipidomic analysis of human TANGO2-deficient cells suggests a lipid imbalance as a cause of TANGO2 deficiency disease

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Epilepsy and Mitochondrial Dysfunction

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Notes from the Underground: Heme Homeostasis in C. elegans

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Clinical exome sequencing uncovers genetic disorders in neonates with suspected hypoxic–ischemic encephalopathy: A retrospective analysis

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TANGO2-Related Metabolic Encephalopathy and Arrhythmias

Lalani, S. R., Graham, B. H., Burrage, L. C., Lai, Y., Scaglia, F., Soler‐Alfonso, C., Miyake, C. Y., & Yang, Y. (2018) · University of Washington, Seattle eBooks · Cited by 12 · see citing works

Whole exome sequencing in 75 high-risk families with validation and replication in independent case-control studies identifies TANGO2, OR5H14, and CHAD as new prostate cancer susceptibility genes

Karyadi, D. M., Geybels, M. S., Karlins, E., Decker, B. J., McIntosh, L. M., Hutchinson, A. A., Kolb, S., McDonnell, S. K., Hicks, B. D., Middha, S., et al. (2016) · Oncotarget · doi:10.18632/oncotarget.13646 · Cited by 12 · see citing works

TANGO2 deficiency disorder is predominantly caused by a lipid imbalance

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Folate as a potential treatment for lethal ventricular arrhythmias in TANGO2-deficiency disorder

Xu, W., Cao, Y., Stephens, S. B., Sancristobal, M. J. A., Chen, Y., Perez, W., Sun, L., Yu, A. C., Kim, J. J., Lalani, S. R., et al. (2024) · JCI Insight · doi:10.1172/jci.insight.171005 · Cited by 11 · see citing works

Vitamin B5 Monotherapy Improves Symptoms in a 7‐Year‐Old Girl With TANGO2 Deficiency Disorder

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Management of acute metabolic crisis in TANGO2 deficiency: a case report

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TANGO2 binds crystallin alpha B and its loss causes desminopathy

Stentenbach, M., Hughes, L. A., Fagan, S. V., Payne, B., Rudler, D. L., Siira, S. J., McCubbin, T., Chopin, A., Perks, K. L., Ermer, J. A., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-60563-1 · Cited by 9 · see citing works

Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome

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TANGO2-related rhabdomyolysis symptoms are associated with abnormal autophagy functioning

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Cellular mechanisms of acute rhabdomyolysis in inherited metabolic diseases

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Transport and Golgi organization 2 deficiency with a prominent elevation of C14 :1 during a metabolic crisis: A case report

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Cross-species evaluation of TANGO2 homologs, including HRG-9 and HRG-10 in Caenorhabditis elegans, challenges a proposed role in heme traffickingPreprint

Sandkuhler, S. E., Youngs, K. S., Gottipalli, O., Owlett, L. D., Bandora, M. B., Naaz, A., Kim, E. S., Wang, L., Wojtovich, A. P., Gupta, V., et al. (2025) · eLife · doi:10.7554/elife.105418 · Cited by 8 · see citing works

Lessons learned from the search for genes responsible for rare Mendelian disorders

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Mitochondria-Associated Membrane Scaffolding with Endoplasmic Reticulum: A Dynamic Pathway of Developmental Disease

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Whole-genome sequencing of 1029 Indian individuals reveals unique and rare structural variants

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TANGO2 Mutation: A Genetic Cause of Multifocal Combined Dystonia

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Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis

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A recurrent single‐exon deletion in TBCK might be under‐recognized in patients with infantile hypotonia and psychomotor delay

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Multicenter appraisal of comorbid TANGO2 deficiency disorder in patients with 22q11.2 deletion syndrome

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Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families

Pantel, D., Mertens, N. D., Schneider, R., Hölzel, S., Kari, J. A., Desoky, S. M. E., Shalaby, M. A., Lim, T. Y., Sanna‐Cherchi, S., Shril, S., et al. (2023) · Pediatric Nephrology · doi:10.1007/s00467-023-06134-2 · Cited by 5 · see citing works

Limb-girdle myopathy and mild intellectual disability: The expanding spectrum of TANGO2-related disease

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Clinical case report of intractable paroxysmal sympathetic hyperactivity in TANGO2 deficiency disorder

Morrison, K., Koshiya, H. G., Safier, R., Brown, A., May, C. S., Vockley, J. E., & Ghaloul‐Gonzalez, L. (2024) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.63633 · Cited by 4 · see citing works

Molecular insight into CREBBP and TANGO2 variants causing intellectual disability

Hussain, S. I., Muhammad, N., Khan, N., Khan, M., Fardous, F., Tahir, R., Yasin, M., Khan, S. A., Saleha, S., Muhammad, N., et al. (2023) · The Journal of Gene Medicine · doi:10.1002/jgm.3591 · Cited by 4 · see citing works

Mitochondrial mayhem: Disrupting conserved N-terminal motifs in TANGO2 impacts its localization and function

Sandkuhler, S. E., & Mackenzie, S. (2025) · The Journal of Cell Biology · doi:10.1083/jcb.202503010 · Cited by 3 · see citing works

Mechanisms of heme transport in the mitochondria

Ali, S. F., White, A. E., Medlock, A. E., & Khalimonchuk, O. (2025) · Biochemical Society Transactions · doi:10.1042/bst20253013 · Cited by 4 · see citing works

Muscle and thyroid manifestations in TANGO2 deficiency disorder: a case study of novel biallelic variants

Sugiyama, R., Shimizu‐Motohashi, Y., Sakata, Y., Omata, T., Takanashi, J., Furukawa, S., Nakashima, M., Saitsu, H., Sato, N., & Komaki, H. (2025) · Brain and Development · doi:10.1016/j.braindev.2025.104442 · Cited by 3 · see citing works

Genetic Screening of Targeted Region on the Chromosome 22q11.2 in Patients with Microtia and Congenital Heart Defect

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Top Stories on arrhythmias in TANGO2 deficiency disorder

Miyake, C. Y., Mackenzie, S., & Zhang, L. (2024) · Heart Rhythm · doi:10.1016/j.hrthm.2024.03.229 · Cited by 3 · see citing works

TANGO2: A Rare but Important Mutation

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Quality of life, illness perceptions, and parental lived experiences in TANGO2-related metabolic encephalopathy and arrhythmias

Murali, C. N., Lalani, S. R., Azamian, M. S., Miyake, C. Y., & Smith, H. S. (2022) · European Journal of Human Genetics · doi:10.1038/s41431-022-01127-5 · Cited by 3 · see citing works

Cardiac function in adolescents and young adults with 22q11.2 deletion syndrome without congenital heart disease

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TANGO-2 with Severe and Prolonged Rhabdomyolysis in a 2-year Old Male with Human metapneumovirus Infection. A case report and literature review.

Kheireldin, R., Imdad, S., & Ostwani, W. (2020) · Translation The University of Toledo Journal of Medical Sciences · doi:10.46570/utjms.vol7-2020-389 · Cited by 3 · see citing works

Anesthetic Challenges in a Patient With TANGO2 Gene Deletion, DiGeorge Syndrome, and Tetralogy of Fallot: A Case Report

Wrobleski, I., Gautam, N. K., & Hubbard, R. (2022) · Seminars in Cardiothoracic and Vascular Anesthesia · doi:10.1177/10892532221080946 · Cited by 3 · see citing works

The Crystal Structure of Human Transport and Golgi Organization 2 Homolog ( TANGO2 ) Protein Reveals an αββα‐Fold Arrangement

Cooper, A., Powers, A., Battaile, K. P., Mohsen, A.-W. A., Johnson, D. K., Lovell, S., & Ghaloul‐Gonzalez, L. (2025) · Proteins Structure Function and Bioinformatics · doi:10.1002/prot.70023 · Cited by 2 · see citing works

Systems-Level Integration of Multi-Omics Identifies Genetic Modifiers of TANGO2 Deficiency Disorder

Airoldi, M., Bondi, H., Remori, V., Carestiato, S., Ferrero, G. B., Brusco, A., & Fasano, M. (2025) · Biomolecules · doi:10.3390/biom15121742 · Cited by 2 · see citing works

Pearls & Oy-sters: Whole-Genome Sequencing in Critically Ill Neurologic Patient Leads to Diagnosis With Treatment Implications

Gaillard, J. R., Whitt, Z., Selwa, L. M., Harris, D., & Lee, K. N. (2023) · Neurology · doi:10.1212/wnl.0000000000207552 · Cited by 2 · see citing works

A novel CLCNKB variant in a Chinese family with classic Bartter syndrome and prenatal genetic diagnosis

Zhao, Q., Xiang, Q., Yu, T., Xiao, X., Xie, H., Wang, H., Yang, M., & Liu, S. (2022) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.2027 · Cited by 2 · see citing works

Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genesPreprint

Vysotskiy, M., Zhong, X. Y., Miller‐Fleming, T. W., Zhou, D., Cox, N. J., & Weiss, L. A. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.06.23.166181 · Cited by 2 · see citing works

A novel mutation in TANGO2 gene associated with recurrent muscle weakness with rhabdomyolysis , metabolic encephalopathy and cardiac arrhythmia: a case report

Alkhawaja, Z., Alkhalifi, S. M., Tulbah, S., & Al‐Hassnan, Z. N. (2023) · Journal of Biochemical and Clinical Genetics · doi:10.24911/jbcgenetics/183-1690703389 · Cited by 1 · see citing works

Complex phenotype associated with mutation in the TANGO2 gene

Meırleır, L. D., D’Hooghe, M., Rademaeker, M. D., Stouffs, K., Geldhof, A., & Seneca, S. (2017) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2017.04.919

Multi-system disorder and severe recurrent rhabdomyolysis due to TANGO2 mutations in a 3 year-old child

Ricci, F., Scalco, R., Mongini, T., Ferrero, G. B., Manole, A., Bertini, E., Desikan, M., Moroni, I., Rocco, M. D., Jungbluth, H., et al. (2017) · Neuromuscular Disorders · doi:10.1016/j.nmd.2017.06.409

Clinical phenotype associated with TANGO2 gene mutation

Hoebeke, C., Caño, A., de Lonlay, P., & Chabrol, B. (2020) · Archives de Pédiatrie · doi:10.1016/j.arcped.2020.11.004 · Cited by 24 · see citing works

Clinical presentation and proteomic signature of patients with TANGO2 mutations

Mingirulli, N., Pyle, A., Hathazi, D., Alston, C. L., Kohlschmidt, N., O’Grady, G. L., Waddell, L. B., Evesson, F. J., Cooper, S. T., Turner, C., et al. (2019) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.12156 · Cited by 68 · see citing works