Genes in panel

Hereditary ataxia - adult onset

Gene: THG1L

Red List (low evidence)

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

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Single homozygous variant reported in one family. Insufficient evidence at this stage
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebellar ataxia with developmental delay, Not listed on

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Cerebellar ataxia with developmental delay
Clinvar variants
Variants in THG1L
Penetrance
None
Panels with this gene

History Filter Activity

19 Jun 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: THG1L was changed from to BIALLELIC, autosomal or pseudoautosomal

15 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Cerebellar ataxia with developmental delay for gene: THG1L

14 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to THG1L.

14 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: THG1L was added gene: THG1L was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: THG1L was set to