Hereditary ataxia
Gene: TGM6Comment when marking as ready: Good evidence from OMIM and expert reviewCreated: 2 Feb 2016, 10:06 a.m.
Quite a few families now. Mode of inheritance/pathogenicity: Dominant-negative?Created: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spinocerebellar ataxia 35
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: TGM6 were changed from Spinocerebellar ataxia 35 to Spinocerebellar ataxia 35, 613908
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene TGM6 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TGM6 was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Model of inheritance for gene TGM6 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TGM6 was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
TGM6 was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN