1. Genes and Genomic Entities
  2. THG1L

THG1L

tRNA-histidine guanylyltransferase 1 like
Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green THG1L in Ataxia and cerebellar anomalies - narrow panel


Level 2: Neurology
Version 8.72
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive 28, OMIM:618800, MONDO:0032923
    Tags
    • gene-checked
    Red THG1L in DDG2P


    Version 6.438
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • THG1L-associated cerebellar ataxia, OMIM:618800
    Red THG1L in Hereditary ataxia with onset in adulthood


    Level 2: Neurology
    Version 8.30
    Latest signed off version: v8.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Cerebellar ataxia with developmental delay