Ketotic hypoglycaemia
Gene: TANGO2EnsemblGeneIds (GRCh38): ENSG00000183597
EnsemblGeneIds (GRCh37): ENSG00000183597
OMIM: 616830, Gene2Phenotype
TANGO2 is in 15 panels
1 review
Sarah Leigh (Genomics England Curator)
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 10 variants reported in at least 14 unrelated cases.
Gene suggested by Rowenna Roberts, Clinical Scientist.
Sources: Expert ReviewCreated: 5 May 2020, 11:14 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 616878
- OMIM
- 616830
- Clinvar variants
- Variants in TANGO2
- Penetrance
- None
- 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 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 Ketotic hypoglycaemia. 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