Ataxia and cerebellar anomalies - narrow panel
Gene: TGM6EnsemblGeneIds (GRCh38): ENSG00000166948
EnsemblGeneIds (GRCh37): ENSG00000166948
OMIM: 613900, Gene2Phenotype
TGM6 is in 6 panels
3 reviews
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.
Panel Version: 3.30
Ivone Leong (Genomics England Curator)
This gene has been tagged for review by the GMS specialist group with a recommendation to demote from Green to Red gene status.Created: 4 May 2021, 1:58 p.m. | Last Modified: 4 May 2021, 1:58 p.m.
Panel Version: 2.153
Zornitza Stark (Australian Genomics)
Causation disputed. Gene is rated Red on the Hereditary Ataxia, adult onset panel.Created: 13 Sep 2020, 7:16 a.m. | Last Modified: 13 Sep 2020, 7:16 a.m.
Panel Version: 2.12
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 Amber
- NHS GMS
- Phenotypes
-
- Spinocerebellar ataxia 35, OMIM:613908
- OMIM
- 613900
- Clinvar variants
- Variants in TGM6
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q2_21_rating was removed from gene: TGM6. Tag Q2_21_expert_review was removed from gene: TGM6.
Added New Source, Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to TGM6. Source Expert Review Amber was added to TGM6. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Added Tag
Ivone Leong (Genomics England Curator)Tag Q2_21_rating tag was added to gene: TGM6.
Added Tag
Ivone Leong (Genomics England Curator)Tag Q2_21_expert_review tag was added to gene: TGM6.
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: TGM6 were changed from Spinocerebellar ataxia 35, 613908 to Spinocerebellar ataxia 35, OMIM:613908
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: TGM6 were set to 32426513; 30670339
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: TGM6 were set to
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: TGM6 were changed from Spinocerebellar ataxia 35 to Spinocerebellar ataxia 35, 613908
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: TGM6 was added gene: TGM6 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: TGM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TGM6 were set to Spinocerebellar ataxia 35