Ataxia - adult onset

Gene: TGM6

Red List (low evidence)

TGM6 (transglutaminase 6)
EnsemblGeneIds (GRCh38): ENSG00000166948
EnsemblGeneIds (GRCh37): ENSG00000166948
OMIM: 613900, Gene2Phenotype
TGM6 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 35, MIM# 613908

Publications

Bryony Thompson (Royal Melbourne Hospital)

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: 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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert Review Red
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia 35, 613908
  • Spinocerebellar ataxia 35
Tags
refuted
OMIM
613900
Clinvar variants
Variants in TGM6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Sep 2020, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag refuted tag was added to gene: TGM6.

17 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tgm6 has been classified as Red List (Low Evidence).

17 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tgm6 has been classified as Red List (Low Evidence).

19 Dec 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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