Likely inborn error of metabolism - targeted testing not possible
Gene: TANGO2Comment on list classification: TANGO2 is rated as Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). It is associated with Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878, which is not considered a primary mitochondrial disorder.Created: 1 Aug 2019, 2:59 p.m. | Last Modified: 1 Aug 2019, 2:59 p.m.
Panel Version: 1.420
Potential differential diagnosis for mitochondrial disorder, with encephalomyopathy, elevated lactate, deranged LFTs, cardiomyopathyCreated: 19 Jun 2019, 12:26 p.m.
Phenotypes
Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878
Red - not considered a primary mitochondrial disorder; TANGO2 encodes an endoplasmic reticulum protein.Created: 11 Jun 2019, 3:59 p.m.
Phenotypes
Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878
Comment on list classification: Promoted from red to green due to expert review and additional evidence; >7 unrelated individuals and 2 families reported.Created: 2 Feb 2017, 4:48 p.m.
Source: Expert Review Red was removed from gene: TANGO2
Publications for gene: TANGO2 were set to 26805782; 26805781; 30245509
Publications for gene: TANGO2 were set to 26805782; 26805781; 30245509
Publications for gene: TANGO2 were set to 26805782; 26805781
Ellen McDonagh: Comment on mode of pathogenici
gene: TANGO2 was added gene: TANGO2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TANGO2 were set to 26805782; 26805781 Phenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878