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DDG2P

Gene: THG1L

Red List (low evidence)
THG1L (tRNA-histidine guanylyltransferase 1 like)
EnsemblGeneIds (GRCh38): ENSG00000113272
EnsemblGeneIds (GRCh37): ENSG00000113272
THG1L is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for THG1L-related cerebellar ataxia are limited, biallelic_autosomal and undetermined (PMIDs: 27307223, 30214071, 31168944, 33682303, 37670026). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03161.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease THG1L-associated cerebellar ataxia, OMIM:618800 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 30214071;31168944;33682303;27307223).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
OMIM:618800.0; THG1L-related cerebellar ataxia; THG1L-associated cerebellar ataxia, OMIM:618800; MONDO:0032923

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • DD-Gene2Phenotype
Phenotypes
  • THG1L-associated cerebellar ataxia, OMIM:618800
Clinvar variants
Variants in THG1L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 1

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: THG1L was changed from Other to None

4 Oct 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: THG1L was added gene: THG1L was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: THG1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: THG1L were set to 30214071; 27307223; 31168944; 33682303 Phenotypes for gene: THG1L were set to THG1L-associated cerebellar ataxia, OMIM:618800 Mode of pathogenicity for gene: THG1L was set to Other