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 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.56
Latest signed off version: v4.0 (22 Mar 2023)

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


    Version 3.155
    Latest signed off version: v3.0 (22 Mar 2023)

    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 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 4.108
    Latest signed off version: v4.0 (22 Mar 2023)

    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