PanelApp
  1. Genes and Genomic Entities
  2. POLR1A

POLR1A

RNA polymerase I subunit A
OMIM: 616404, ClinGen, DECIPHER

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green POLR1A in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 1.13

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Acrofacial dysostosis, Cincinnati type MIM#616462

Amber POLR1A in Craniosynostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Acrofacial dysostosis, Cincinnati type MIM#616462

Green POLR1A in Mandibulofacial Acrofacial dysostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.6

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Acrofacial dysostosis, Cincinnati type, MIM# 616462

Green POLR1A in Mendeliome


Version 2.354

3 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukodystrophy, hypomyelinating, 27, MIM# 620675
  • Acrofacial dysostosis, Cincinnati type, (MIM#616462)

Amber POLR1A in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.30

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Acrofacial dysostosis, Cincinnati type MIM#616462

    Green POLR1A in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.60

    		2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Acrofacial dysostosis, Cincinnati type MIM#616462
    • Leukodystrophy, hypomyelinating, 27, MIM# 620675

    Green POLR1A in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 1.26

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert list
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Acrofacial dysostosis, Cincinnati type 616462

    Amber POLR1A in Leukodystrophy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.4

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Leukodystrophy, hypomyelinating, 27, MIM# 620675

    Green POLR1A in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.4

    		1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Acrofacial dysostosis, Cincinnati type MIM#616462

    Green POLR1A in Hand and foot malformations


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.1

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Acrofacial dysostosis, Cincinnati type 616462

    Green POLR1A in Fetal anomalies


    Version 2.22

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Acrofacial dysostosis, Cincinnati type, OMIM:616462
    • Acrofacial dysostosis Cincinnati type, MONDO:0014651