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Central Precocious Puberty Caused by Mutations in the Imprinted Gene MKRN3

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COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

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TANGO1 Facilitates Cargo Loading at Endoplasmic Reticulum Exit Sites

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Use of Exome Sequencing for Infants in Intensive Care Units

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Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

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Inborn Errors of Metabolism Overview

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Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability

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Molecular genetics of 22q11.2 deletion syndrome

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WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome

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In the line-up: deleted genes associated with DiGeorge/22q11.2 deletion syndrome: are they all suspects?

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Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease

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Recent advances in epilepsy genomics and genetic testing

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Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy

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Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans

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TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

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High-resolution phenotyping identifies NK cell subsets that distinguish healthy children from adults

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HRG-9 homologues regulate haem trafficking from haem-enriched compartments

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Clinical presentation and proteomic signature of patients with TANGO2 mutations

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Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

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CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

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Identification of novel candidate disease genes from de novo exonic copy number variants

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Endocrine Disorders in Primary Mitochondrial Disease

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TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism

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Episodic ataxias

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The phenotype associated with variants in TANGO2 may be explained by a dual role of the protein in ER‐to‐Golgi transport and at the mitochondria

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Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients

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Golgipathies in Neurodevelopment: A New View of Old Defects

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Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect

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

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De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

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Mitochondrial dysfunction associated with TANGO2 deficiency

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Mitochondrial dysfunction in cognitive neurodevelopmental disorders: Cause or effect?

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Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts

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EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay

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Vitamin B5, a coenzyme A precursor, rescues TANGO2 deficiency disease‐associated defects in Drosophila and human cells

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Cardiac crises: Cardiac arrhythmias and cardiomyopathy during TANGO2 deficiency related metabolic crises

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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

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

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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

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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

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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

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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

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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

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

Li, H., Xu, Z., Guo, J., Zhang, P., Dong, X., & Zhao, L. (2024) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.63938 · Cited by 13

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

Gümüş, E. Y., Elcioglu, N. H., Genç, E., Arıcı, Ş., Öztürk, G., Yapıcı, Ö., Akalın, F., & Hişmi, B. Ö. (2023) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2023-0172 · Cited by 12

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

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

Smyk, M., Geremek, M., Ziemkiewicz, K., Gambin, T., Kutkowska‐Kaźmierczak, A., Kowalczyk, K., Plaskota, I., Wiśniowiecka‐Kowalnik, B., Bartnik, M., Niemiec, M., et al. (2023) · Genes · doi:10.3390/genes14030680 · Cited by 9

TANGO2-related rhabdomyolysis symptoms are associated with abnormal autophagy functioning

de Calbiac, H., Montealegre, S., Straube, M., Renault, S., Debruge, H., Chentout, L., Ciura, S., Imbard, A., Guillou, É. L., Marian, A., et al. (2024) · Autophagy Reports · doi:10.1080/27694127.2024.2306766 · Cited by 8

Cellular mechanisms of acute rhabdomyolysis in inherited metabolic diseases

de Calbiac, H., Imbard, A., & de Lonlay, P. (2024) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.12781 · Cited by 9

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

Yokoi, K., Nakajima, Y., Takahashi, Y., Hamajima, T., Tajima, G., Saito, K., Miyai, S., Inagaki, H., Yoshikawa, T., Kurahashi, H., et al. (2022) · JIMD Reports · doi:10.1002/jmd2.12275 · Cited by 7

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

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

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

Sobreira, N. L. D. M., & Valle, D. L. (2016) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.233 · Cited by 7

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

Saneto, R. P., & Perez, F. A. (2022) · Frontiers in Molecular Biosciences · doi:10.3389/fmolb.2022.908721 · Cited by 8

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

Divakar, M. K., Jain, A. K., Bhoyar, R. C., Senthivel, V., Jolly, B., Imran, M., Sharma, D., Bajaj, A., Gupta, V., Scaria, V., et al. (2023) · Journal of Human Genetics · doi:10.1038/s10038-023-01131-7 · Cited by 7

TANGO2 Mutation: A Genetic Cause of Multifocal Combined Dystonia

Frey, J., Burns, M. R., Chiu, S., Shukla, A. W., Kouzi, A. E., Jackson, J. L., Arn, P. H., & Malaty, I. A. (2021) · Movement Disorders Clinical Practice · doi:10.1002/mdc3.13400 · Cited by 6

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

Kumar, R. D., Meng, L., Liu, P., Miyake, C. Y., Worley, K. C., Bi, W., & Lalani, S. R. (2022) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62967 · Cited by 6

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

Dai, H., Zhu, W., Yuan, B., Walley, N., Schoch, K., Jiang, Y., Phillips, J. A., Jones, M. S., Liu, P., Murdock, D. R., et al. (2022) · Human Mutation · doi:10.1002/humu.24497 · Cited by 6

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

Owlett, L. D., Zapanta, B., Sandkuhler, S. E., Ames, E. G., Hickey, S. E., Mackenzie, S., & Meisner, J. K. (2024) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.63778 · Cited by 6

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

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

Restrepo‐Vera, J. L., Muñoz‐Cabello, P., Pérez‐Rodon, J., Rovira‐Moreno, E., Codina‐Solà, M., Llauradó, A., Salvadó, M., Sánchez‐Tejerina, D., Sotoca, J., Martínez-Sáez, E. A., et al. (2023) · Neuromuscular Disorders · doi:10.1016/j.nmd.2023.02.010 · Cited by 4

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

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

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

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

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

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

Zhu, C., Yang, Y., Pan, B., Wei, H., Ju, J., Si, N., & Xu, Q. (2023) · Genes · doi:10.3390/genes14040879 · Cited by 3

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

TANGO2: A Rare but Important Mutation

WALTERS, B., McConkey, N., & Imundo, J. R. (2024) · Journal of Innovations in Cardiac Rhythm Management · doi:10.19102/icrm.2024.15054 · Cited by 3

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 7

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

Putotto, C., Unolt, M., Lambiase, C., Marchetti, F., Anaclerio, S., Favoriti, A., Tancredi, G., Mastromoro, G., Pugnaloni, F., Liberati, N., et al. (2022) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2022.104651 · Cited by 3

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

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

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

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

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

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

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

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

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 25

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 67