POLR1B

RNA polymerase I subunit B
OMIM: 602000, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green POLR1B in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.38
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Treacher-Collins syndrome 4 OMIM:618939
    • treacher collins syndrome 4 MONDO:0030067
    Green POLR1B in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.181
    Latest signed off version: v6.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    • Expert Review
    Phenotypes
    • Treacher-Collins syndrome 4 OMIM:618939
    Green POLR1B in Clefting


    Level 2: Musculoskeletal
    Version 6.23
    Latest signed off version: v6.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Treacher-Collins syndrome 4 OMIM:618939
    • treacher collins syndrome 4 MONDO:0030067