Cerebral Palsy
Gene: TGM6
TGM6 (transglutaminase 6)
EnsemblGeneIds (GRCh38): ENSG00000166948
EnsemblGeneIds (GRCh37): ENSG00000166948
OMIM: 613900, Gene2Phenotype
TGM6 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000166948
EnsemblGeneIds (GRCh37): ENSG00000166948
OMIM: 613900, Gene2Phenotype
TGM6 is in 4 panels
1 review
Clare van Eyk (University of Adelaide)
2 individuals with LP/P variants reported in large-scale exome sequencing study (PMID: 38693247). No additional clinical information provided.
Age of onset of SCA35 is reported to be teenage-adult years.
Sources: LiteratureCreated: 27 May 2024, 2:44 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 35, MIM#613908
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Spinocerebellar ataxia 35, MIM#613908
- OMIM
- 613900
- Clinvar variants
- Variants in TGM6
- Penetrance
- None
- Publications
-
- PMID: 38693247
- Panels with this gene
History Filter Activity
30 May 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tgm6 has been classified as Red List (Low Evidence).
30 May 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tgm6 has been classified as Red List (Low Evidence).
27 May 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: TGM6 was added gene: TGM6 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: TGM6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TGM6 were set to PMID: 38693247 Phenotypes for gene: TGM6 were set to Spinocerebellar ataxia 35, MIM#613908 Review for gene: TGM6 was set to AMBER