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


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

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
    Red THG1L in DDG2P


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    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


    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

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