Rhabdomyolysis and Metabolic Myopathy
Gene: TANGO2
Well established gene disease association.
Affected individuals usually present in childhood with acute encephalomyopathic features, including rhabdomyolysis, hypotonia, and neurologic regression, although most patients have delayed psychomotor development before the acute onset. The overall disease course is characterized by progressive neurodegeneration with epilepsy, cognitive impairment, pyramidal and cerebellar signs, and loss of expressive language. Cardiac involvement with severe arrhythmias is a consistent and potentially life-threatening manifestation.Created: 25 Mar 2022, 4:31 a.m. | Last Modified: 25 Mar 2022, 4:31 a.m.
Panel Version: 0.11929
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM# 616878
Publications
At least 9 families with rhabdomyolysis reported with biallelic pathogenic variants.
Sources: Expert listCreated: 12 Feb 2020, 8:39 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration MIM#616878
Publications
Gene: tango2 has been classified as Green List (High Evidence).
Publications for gene: TANGO2 were set to
gene: TANGO2 was added gene: TANGO2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878