1. Genes and Genomic Entities
  2. UBTF

UBTF

upstream binding transcription factor, RNA polymerase I
OMIM: 600673, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green UBTF 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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neurodegeneration, childhood-onset, with brain atrophy, OMIM:617672
    Amber UBTF in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.169
    Latest signed off version: v6.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Childhood-Onset Neurodegeneration
    Green UBTF in DDG2P


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

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Childhood-Onset Neurodegeneration
    Green UBTF in Intellectual disability


    Level 2: Developmental disorders
    Version 9.330
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Expert Review Green
    Phenotypes
    • Neurodegeneration, childhood-onset, with brain atrophy, OMIM:617672
    Green UBTF in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.17
    Latest signed off version: v7.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neurodegeneration, childhood-onset, with brain atrophy, OMIM:617672