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  3. POLR3B
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Genetic Epilepsy

Gene: POLR3B

Green List (high evidence)
POLR3B (RNA polymerase III subunit B)
EnsemblGeneIds (GRCh38): ENSG00000013503
EnsemblGeneIds (GRCh37): ENSG00000013503
OMIM: 614366, Gene2Phenotype
POLR3B is in 15 panels

3 reviews

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

3/6 individuals with de novo missense presented with seizures
Sources: Literature
Created: 11 Oct 2021, 6:14 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
ataxia, spasticity, and demyelinating neuropathy

Publications

Created: 11 Oct 2021, 6:14 a.m.

Panel version: 0.1297

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 33417887: Six unrelated individuals with de novo missense variants.
Patients had ataxia, spasticity, variable intellectual disability and epilepsy, and predominantly demyelinating sensory motor peripheral neuropathy.
Protein modeling and proteomic analysis shows variants caused aberrant association of individual enzyme subunits rather than affecting overall enzyme assembly or stability.

Biallelic disease is well established, monoallelic is emerging
Created: 1 Feb 2021, 5:44 a.m. | Last Modified: 1 Feb 2021, 5:44 a.m.
Panel Version: 0.6171

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Ataxia, spasticity, and demyelinating neuropathy; Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#614381

Publications

Created: 1 Feb 2021, 5:44 a.m.
Last Modified: 1 Feb 2021, 5:44 a.m.
Panel version: Imported from Mendeliome panel version 0.6171

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants are associated with leukodystrophy.
Created: 17 Apr 2020, 2:48 a.m. | Last Modified: 1 Feb 2021, 8:11 a.m.
Panel Version: 0.6184

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Charcot-Marie-Tooth disease, demyelinating, type 1I, MIM# 619742; Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 614381

Publications

Created: 17 Apr 2020, 2:48 a.m.
Last Modified: 1 Feb 2021, 8:11 a.m.
Panel version: Imported from Mendeliome panel version 0.10991

Details

Mode of Inheritance
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
OMIM
614366
Clinvar variants
Variants in POLR3B
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

11 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: polr3b has been classified as Green List (High Evidence).

11 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: polr3b has been classified as Green List (High Evidence).

11 Oct 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Ain Roesley (Victorian Clinical Genetics Services)

gene: POLR3B was added gene: POLR3B was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: POLR3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: POLR3B were set to 33417887 Phenotypes for gene: POLR3B were set to ataxia, spasticity, and demyelinating neuropathy Penetrance for gene: POLR3B were set to unknown Review for gene: POLR3B was set to GREEN