Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: THG1L

No list

THG1L (tRNA-histidine guanylyltransferase 1 like)
EnsemblGeneIds (GRCh38): ENSG00000113272
EnsemblGeneIds (GRCh37): ENSG00000113272
THG1L is in 2 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Four Ashkenazi Jewish families reported, with same homozygous variant, p.V55A in affected individuals. Another individual from different ethnicity also reported. A carrier rate of 0.8%, but no THG1L V55A homozygotes, was found in a cohort of 3,232 unrelated Ashkenazi Jewish individuals, and no homozygotes found in Exac or gnomAD.
Sources: Literature
Created: 1 May 2020, 10:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebellar ataxia

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Cerebellar ataxia
Clinvar variants
Variants in THG1L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 May 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: THG1L was added gene: THG1L was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature Mode of inheritance for gene: THG1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: THG1L were set to 27307223; 30214071; 31168944 Phenotypes for gene: THG1L were set to Cerebellar ataxia Review for gene: THG1L was set to GREEN