| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Early onset or syndromic epilepsy v1.191 | TANGO2 | Rebecca Foulger Source Wessex and West Midlands GLH was added to TANGO2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.190 | TANGO2 | Rebecca Foulger Source NHS GMS was added to TANGO2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.189 | TANGO2 | Rebecca Foulger reviewed gene: TANGO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.188 | TANGO2 | Tracy Lester reviewed gene: TANGO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26805782, 30245509 ; Phenotypes: Metabolic encephalomyopathic crises recurrent with rhabdomyolysis cardiac arrhythmias and neurodegeneration, 616878; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1517 | TANGO2 | Sarah Leigh Publications for gene: TANGO2 were set to 29369572; 30245509 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1516 | TANGO2 | Sarah Leigh Marked gene: TANGO2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1516 | TANGO2 | Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least three variants reported 7 unrelated cases in which seizures are a phenotypic feature. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1516 | TANGO2 | Sarah Leigh Gene: tango2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1516 | TANGO2 | Sarah Leigh Classified gene: TANGO2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1516 | TANGO2 | Sarah Leigh Added comment: Comment on list classification: Based on reviewer's comments and sufficient evidence from the literature. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1516 | TANGO2 | Sarah Leigh Gene: tango2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1515 | TANGO2 | Sarah Leigh Phenotypes for gene: TANGO2 were changed from Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM 616878 to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1488 | TANGO2 |
Konstantinos Varvagiannis gene: TANGO2 was added gene: TANGO2 was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TANGO2 were set to 29369572; 30245509 Phenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM 616878 Penetrance for gene: TANGO2 were set to Complete Review for gene: TANGO2 was set to GREEN gene: TANGO2 was marked as current diagnostic Added comment: Biallelic pathogenic variants in TANGO2 cause Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM 616878 PMIDs: 29369572 and 30245509 are both reviews on the disorder. Epilepsy is a feature in 70-80% of the patients (29 individuals reviewed in the second article). According to PMID: 29369572 "Seizures are observed outside the periods of crises in more than 75% of individuals". PMID 30245509 notes that seizures occurred in a small minority of patients only during periods of crises secondary to hypoglycemia or associated with arrhythmia. TANGO2 is included in gene panels for epilepsy offered by (few) diagnostic laboratories. The gene is already present in the ID and mitochondrial disorders panels as green. As a result, this gene can also be considered for inclusion in this panel as green. Sources: Literature |
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