1. Genes and Genomic Entities
  2. POLR3A

POLR3A

RNA polymerase III subunit A
OMIM: 614258, Gene2Phenotype

19 panels

Panel Reviews Mode of inheritance Details
19 panels
Green POLR3A in COVID-19 research


Level 2: Viral research
Version 1.146

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • IUIS Classification December 2019
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • RNA polymerase III deficiency
  • Severe VZV infection
  • Predisposition to severe viral infection
  • Defects in intrinsic and innate immunity
Green POLR3A in White matter disorders and cerebral calcification - narrow panel


Level 2: Neurology
Version 7.11
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
    Green POLR3A in Ataxia and cerebellar anomalies - narrow panel


    Level 2: Neurology
    Version 8.63
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
    • Autosomal Recessive Ataxia
    Red POLR3A in Pituitary hormone deficiency


    Level 2: Endocrinology
    Version 4.4
    Latest signed off version: v4.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center
    Phenotypes
    • Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (607694)
    Green POLR3A in Adult onset leukodystrophy


    Level 2: Neurology
    Version 6.8
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH
    Phenotypes
    • Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694
    Green POLR3A in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.344

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Autosomal Recessive Ataxia
    • Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
    Amber POLR3A in Primary immunodeficiency or monogenic inflammatory bowel disease


    Level 2: Immunology
    Version 8.78
    Latest signed off version: v8.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Severe VZV infection
    Green POLR3A in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.186

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 607694
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy
    Green POLR3A in Hereditary spastic paraplegia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.316

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Autosomal Recessive Ataxia
    • Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
    Green POLR3A in Childhood onset hereditary spastic paraplegia


    Level 2: Neurology
    Version 8.30
    Latest signed off version: v8.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Yorkshire and North East GLH
    • Expert Review Green
    • NHS GMS
    • London North GLH
    • Literature
    Phenotypes
    • Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694
    • Autosomal Recessive Ataxia
    Green POLR3A in Adult onset hereditary spastic paraplegia


    Level 2: Neurology
    Version 6.7
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694
    • Autosomal Recessive Ataxia
    Red POLR3A in Adult onset neurodegenerative disorder


    Level 2: Neurology
    Version 8.11
    Latest signed off version: v8.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
    • Autosomal Recessive Ataxia
    Green POLR3A in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.138
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
    • Autosomal Recessive Wiedemann Rautenstrauch Syndrome, 264090
    Green POLR3A in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Autosomal Recessive Wiedemann Rautenstrauch Syndrome
    • LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 607694
    Green POLR3A in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.506

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694
    • Adolescent onset progressive spastic ataxia, tremor, involvement of central sensory tracts, dental complications
    • Bilateral hyperintensities on MRI from the superior cerebellar peduncle to the dentate nucleus / midbrain
    Green POLR3A in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropichypogonadism, 607694
    • LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
    Green POLR3A in Hereditary ataxia with onset in adulthood


    Level 2: Neurology
    Version 8.23
    Latest signed off version: v8.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Hereditary ataxia v1.148
    Phenotypes
    • Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
    • Hypomyelinating leukodystrophy 7 with or without oligodontia and/or hypogonadotrophic hypogonadism, 607694
    • Autosomal Recessive Ataxia
    Green POLR3A in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 7.36
    Latest signed off version: v7.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH
    Phenotypes
    • Bilateral hyperintensities on MRI from the superior cerebellar peduncle to the dentate nucleus / midbrain
    • Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694
    • Adolescent onset progressive spastic ataxia, tremor, involvement of central sensory tracts, dental complications
    Green POLR3A in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694
    • Wiedemann-Rautenstrauch syndrome, 264090