POLR1A

RNA polymerase I subunit A
OMIM: 616404, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Red POLR1A in White matter disorders and cerebral calcification - narrow panel


Version 1.176
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red

    Green POLR1A in Deafness and congenital structural abnormalities

    Level 3: Deafness and congenital structural abnormalities
    Level 2: Hearing and ear disorders
    Version 1.17

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • 3 afftected individuals with Cincinnati type mandibulofacial dysostosis, 616462. 1 de novo, inherited from an unaffected parent and 1 with parental status unknown
    • Acrofacial dysostosis, Cincinnati type, 616462
    • Microtia/ anotia
    • acrofacial dysostosis
    • micrognathia

    Amber POLR1A in Limb disorders


    Version 2.42
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Acrofacial dysostosis, Cincinnati type, 616462

    Red POLR1A in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.121

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list

    Green POLR1A in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.100
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Acrofacial dysostosis, Cincinnati type 616462

    Amber POLR1A in Fetal anomalies


    Version 1.674
    Latest signed off version: v1.92 (21 Aug 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Acrofacial dysostosis, Cincinnati type, OMIM:616462
    • Acrofacial dysostosis Cincinnati type, MONDO:0014651
    Tags
    • for-review

    Amber POLR1A in DDG2P


    Version 2.27
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE

    Amber POLR1A in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.32
    Latest signed off version: v2.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • cleft palte

    Green POLR1A in Severe Paediatric Disorders


    Version 1.78

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Acrofacial dysostosis, Cincinnati type, 616462