BRF2

BRF2, RNA polymerase III transcription initiation factor subunit
OMIM: 607013, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red BRF2 in COVID-19 research


Level 2: Viral research
Version 1.147

review Unknown
Sources
  • Literature
Amber BRF2 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.99
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042
Green BRF2 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.187
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Syndromic immunodeficiency and developmental disorders
Tags
  • gene-checked
No list BRF2 in Paediatric disorders - additional genes


Level 2: Developmental disorders
Version 7.46
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • Literature
    Phenotypes
    • multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042
    Tags
    • curated_removed
    Amber BRF2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.376
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042
    • intellectual disability, MONDO:0001071
    Tags
    • Q1_26_promote_green