Rhabdomyolysis and metabolic muscle disorders

Gene: TANGO2

Amber List (moderate evidence)

TANGO2 (transport and golgi organization 2 homolog)
EnsemblGeneIds (GRCh38): ENSG00000183597
EnsemblGeneIds (GRCh37): ENSG00000183597
OMIM: 616830, Gene2Phenotype
TANGO2 is in 13 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)

Green List (high evidence)

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 Review
Created: 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 Amber
  • Expert Review
Phenotypes
  • Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878
Tags
for-review
OMIM
616830
Clinvar variants
Variants in TANGO2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: tango2 has been classified as Amber List (Moderate Evidence).

20 Oct 2020, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: TANGO2.

5 May 2020, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: tango2 has been classified as Green List (High Evidence).

5 May 2020, Gel status: 1

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