PanelApp
  1. Genes and Genomic Entities
  2. POLR1C

POLR1C

RNA polymerase I subunit C
OMIM: 610060, ClinGen, DECIPHER

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Red POLR1C in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.36

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Leukodystrophy, hypomyelinating, 11, OMIM#616494

Green POLR1C in Mandibulofacial Acrofacial dysostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.17

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Treacher Collins syndrome 3, MIM# 248390

Green POLR1C in Mendeliome


Version 1.4215

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Treacher Collins syndrome 3, MIM# 248390
  • Leukodystrophy, hypomyelinating, 11, MIM# 616494

Green POLR1C in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.638

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukodystrophy, hypomyelinating, 11, MIM# 616494

Green POLR1C in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.402

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Treacher Collins syndrome 3 248390

Green POLR1C in Leukodystrophy


Level 2: Neurology and neurodevelopmental disorders
Version 0.392

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leukodystrophy, hypomyelinating, 11, MIM# 616494

    Green POLR1C in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.111

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Treacher Collins syndrome 3, 248390 (3)

    Green POLR1C in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.310

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • TREACHER COLLINS SYNDROME 3
    • TCS3

    Green POLR1C in Fetal anomalies


    Version 1.522

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert list
    Phenotypes
    • Treacher Collins syndrome 3, MIM# 248390

    Green POLR1C in Prepair 1000+


    Level 2: Screening
    Version 2.15

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Leukodystrophy, hypomyelinating, 11 MIM#616494
    • Treacher Collins syndrome 3 MIM#248390

    Green POLR1C in Prepair 500+


    Level 2: Screening
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Leukodystrophy, hypomyelinating, 11 MIM#616494
    • Treacher Collins syndrome 3 MIM#248390