Mitochondrial disorders
Gene: TANGO2EnsemblGeneIds (GRCh38): ENSG00000183597
EnsemblGeneIds (GRCh37): ENSG00000183597
OMIM: 616830, Gene2Phenotype
TANGO2 is in 15 panels
5 reviews
Sarah Leigh (Genomics England Curator)
Comment 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
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)
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
Carl Fratter (Oxford University Hospitals NHS Trust)
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
Ellen McDonagh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert Review
- Phenotypes
-
- Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878
- OMIM
- 616830
- Clinvar variants
- Variants in TANGO2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- DDG2P
- Ketotic hypoglycaemia
- Intellectual disability
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Ataxia and cerebellar anomalies - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Cardiac arrhythmias - additional genes
- Undiagnosed metabolic disorders
History Filter Activity
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: tango2 has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878
Created
Richard Scott (Genomics England Curator)TANGO2 was created by richardhywel
Added New Source
Richard Scott (Genomics England Curator)TANGO2 was added to Mitochondrial disorderspanel. Sources: Expert Review