POLR2A

RNA polymerase II subunit A
OMIM: 180660, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red POLR2A in Rare syndromic craniosynostosis or isolated multisuture synostosis


Level 2: Musculoskeletal
Version 6.3
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, OMIM:618603
  • craniosynostosis, MONDO:0015469
Green POLR2A in DDG2P


Version 6.424
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
    • SYNDROMIC INTELLECTUAL DISABILITY 612100
    Red POLR2A in Clefting


    Level 2: Musculoskeletal
    Version 6.20
    Latest signed off version: v6.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, OMIM:618603
    Green POLR2A in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    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
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, 618603
    • Global developmental delay
    • Generalized hypotonia
    • Feeding difficulties