Regression

Gene: TGM6

Red List (low evidence)

Recent publication refutes the association of this gene with SCA:
In a Chinese exome sequencing cohort, 8 families were identified with reported TGM6 variants sharing no features of SCA35. These variants were significantly more common in the East Asian gnomAD sub-population than in other ethnic groups (P < 0.0001). Gene constraint metrics showed that both missense and loss-of-function variants in TGM6 are likely to be tolerated and there is no regional constraint. Inflation analysis demonstrated that the cumulative frequency of TGM6 reported pathogenic variants is at least 111-fold inflated over disease prevalence of all autosomal dominant SCAs, indicating a high chance of misdiagnosis or low penetrance.

Created: 13 Sep 2020, 7:18 a.m. | Last Modified: 13 Sep 2020, 7:18 a.m.

Panel Version: 0.157

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 35, MIM# 613908

Publications

• 30670339
• 32426513