Rhabdomyolysis and metabolic muscle disorders
Gene: TANGO2EnsemblGeneIds (GRCh38): ENSG00000183597
EnsemblGeneIds (GRCh37): ENSG00000183597
OMIM: 616830, Gene2Phenotype
TANGO2 is in 15 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).Created: 20 Oct 2020, 3:10 p.m. | Last Modified: 20 Oct 2020, 3:10 p.m.
Panel Version: 1.43
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 4:51 p.m. | Last Modified: 8 Mar 2022, 4:51 p.m.
Panel Version: 1.77
Gene suggested by Rowenna Roberts, Clinical Scientist.Created: 5 May 2020, 11:15 a.m. | Last Modified: 5 May 2020, 11:15 a.m.
Panel Version: 1.39
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 10 variants reported in at least 14 unrelated cases, in which rabdomyolysis was reported in 11 unrelated cases.
Sources: Expert ReviewCreated: 5 May 2020, 11:01 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, OMIM:616878
- OMIM
- 616830
- Clinvar variants
- Variants in TANGO2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Cardiac arrhythmias - additional genes
- Undiagnosed metabolic disorders
- Ketotic hypoglycaemia
- Intellectual disability
- Ataxia and cerebellar anomalies - narrow panel
- Mitochondrial disorders
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Rhabdomyolysis and metabolic muscle disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Early onset or syndromic epilepsy
- Acute rhabdomyolysis
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: TANGO2 were changed from Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, OMIM:616878
Removed Tag
Eleanor Williams (Genomics England Curator)Tag for-review was removed from gene: TANGO2.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to TANGO2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: tango2 has been classified as Amber List (Moderate Evidence).
Added Tag
Arina Puzriakova (Genomics England Curator)Tag for-review tag was added to gene: TANGO2.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: tango2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sarah Leigh (Genomics England Curator)gene: TANGO2 was added gene: TANGO2 was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Expert Review Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TANGO2 were set to 26805782; 30245509 Phenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 Review for gene: TANGO2 was set to GREEN