Ataxia and cerebellar anomalies - narrow panel

Gene: TANGO2

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.

Created: 26 Sep 2024, 12:35 p.m. | Last Modified: 26 Sep 2024, 12:35 p.m.

Panel Version: 6.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

Comment on list classification: As reviewed by Asma Hamad, biallelic TANGO2 variants are associated with a syndromic disorder characterized by neurodevelopmental delays, seizures, intermittent ataxia, hypothyroidism and life-threatening metabolic and cardiac crises.

Hence, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.

Created: 11 Jun 2024, 4:30 p.m. | Last Modified: 11 Jun 2024, 4:32 p.m.

Panel Version: 5.6

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, OMIM:616878

Publications

• 30245509
• 31276219
• 32527145
• 36473599

I don't know

PMID 30245509
- Report of 14 individuals with TANGO2-related disorder. One of the patients discussed developed ataxia and dizziness at the age of 2 yeas (Patient 10)

PMID 31276219
- 2019 paper which reports 11 new cases of TANGO2-related disease. All 11 patients showed developmental delay with ataxia

PMID 36473599
- Data collected from 73 individuals studying the natural history of TANGO2 deficiency disorder. 94% of individuals (65/69) had ataxia as a feature. Ataxia was one of the symptoms found to occur between the ages of 1 to 3 years and of the first symptoms noted.

PMID 32527145
- Case report of a 6-year old girl diagnosed with TANGO2-related disease. By the age of 29 months, she had developed ataxia that worsened with viral illnesses and seizures and was recurrent in nature

I am a NHS Clinician and have clinical experience of a patient who had episodic ataxia as one of their presenting features. Testing in the hereditary ataxia panel did not find any pathogenic variants as the TANGO2 gene was not present on the panel. A diagnosis was later achieved over 4 years later when it became evident they had learning difficulties and the R29 panel was activated.
Sources: Literature

Created: 6 Jun 2024, 12:58 p.m. | Last Modified: 6 Jun 2024, 1:03 p.m.

Panel Version: 5.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal