Ataxia - adult onset
Gene: TGM6
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: 17 Apr 2020, 4:30 a.m. | Last Modified: 17 Apr 2020, 4:30 a.m.
Panel Version: 0.26
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 35 MIM#613908
Publications
Tag refuted tag was added to gene: TGM6.
Gene: tgm6 has been classified as Red List (Low Evidence).
Gene: tgm6 has been classified as Red List (Low Evidence).
gene: TGM6 was added gene: TGM6 was added to Ataxia - adult onset_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber Mode of inheritance for gene: TGM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TGM6 were set to 25253745; 21106500; 28934387; 22554020; 30670339; 29053796; 23206699 Phenotypes for gene: TGM6 were set to Spinocerebellar ataxia 35, 613908; Spinocerebellar ataxia 35