PanelApp
  1. Genes and Genomic Entities
  2. POLR3B

POLR3B

RNA polymerase III subunit B
OMIM: 614366, ClinGen, DECIPHER

18 panels

Panel Reviews Mode of inheritance Details
18 panels

Green POLR3B in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.27

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
  • OMIM #614381

Green POLR3B in Mendeliome


Version 1.3795

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Charcot-Marie-Tooth disease, demyelinating, type 1I, MIM# 619742
  • Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 614381

Green POLR3B in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.307

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  3 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • ataxia, spasticity, and demyelinating neuropathy

    Green POLR3B in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.578

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green POLR3B in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.600

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green POLR3B in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.497

    		1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • POLR3B-related disorder MONDO:0700277
    • Charcot-Marie-Tooth disease, demyelinating, type 1I MIM#619742
    • Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#614381

    Green POLR3B in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.158

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    • GeneReviews
    Phenotypes
    • Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM#614381

    Green POLR3B in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.334

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 614381

    Green POLR3B in Leukodystrophy - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.153

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381

    Green POLR3B in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.45

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Charcot-Marie-Tooth disease, demyelinating, type 1I, MIM# 619742

    Green POLR3B 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
    • Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3)

    Green POLR3B in Primary Ovarian Insufficiency_Premature Ovarian Failure

    Level 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 0.391

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#614381

    Green POLR3B in Pituitary hormone deficiency

    Level 3: Pituitary disorders
    Level 2: Endocrine disorders
    Version 0.166

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
    • OMIM #614381

    Red POLR3B in Fetal anomalies


    Version 1.481

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, OMIM:614381

    Green POLR3B 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, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3)

    Green POLR3B 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, 8, with or without oligodontia and/or hypogonadotropic hypogonadism,MIM#614381

    Green POLR3B in Infertility and Recurrent Pregnancy Loss


    Version 1.56

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 614381

    Green POLR3B in Hypogonadotropic hypogonadism

    Level 3: Pituitary disorders
    Level 2: Endocrine disorders
    Version 0.74

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Literature
    • Expert Review Green
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
    • OMIM #614381