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Ketotic hypoglycaemia v1.4 | TANGO2 | Sarah Leigh Classified gene: TANGO2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ketotic hypoglycaemia v1.4 | TANGO2 | Sarah Leigh Gene: tango2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ketotic hypoglycaemia v1.3 | TANGO2 |
Sarah Leigh 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 Added comment: 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 Review |