POLR1C

RNA polymerase I subunit C
OMIM: 610060, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels
Green POLR1C in White matter disorders and cerebral calcification - narrow panel


Version 3.31
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Leukodystrophy, hypomyelinating, 11
    Green POLR1C in Deafness and congenital structural abnormalities

    Level 3: Deafness and congenital structural abnormalities
    Level 2: Hearing and ear disorders
    Version 1.22

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    Phenotypes
    • Bilateral Microtia
    • 248390
    • Causes Treacher Collins syndrome which is highly variable
    • Treacher Collins syndrome 3
    Green POLR1C in Adult onset leukodystrophy


    Version 3.24
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH
    Phenotypes
    • Leukodystrophy, hypomyelinating, 11
    Tags
    • to_be_confirmed_NHSE
    Green POLR1C in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.179

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Leukodystrophy, hypomyelinating, 11 616494
    Green POLR1C in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.52
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Treacher Collins syndrome 3 248390
    Green POLR1C in Fetal anomalies


    Version 3.136
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • TREACHER COLLINS SYNDROME TYPE 3
    Green POLR1C in DDG2P


    Version 3.79
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • TREACHER COLLINS SYNDROME TYPE 3 248390
    Red POLR1C in Monogenic hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.25
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Expert
    Green POLR1C in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 4.106
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • TREACHER COLLINS SYNDROME 3
    • TCS3
    Green POLR1C in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.478
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Leukodystrophy, hypomyelinating, 11, OMIM:616494
    Red POLR1C in Structural eye disease


    Version 3.74
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    Phenotypes
    • Treacher-Collins Syndrome, 248390
    Green POLR1C in Severe Paediatric Disorders


    Version 1.182

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Treacher Collins syndrome 3, 248390
    • Leukodystrophy, hypomyelinating, 11, 616494