Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: POLR3B

No list

POLR3B (RNA polymerase III subunit B)
EnsemblGeneIds (GRCh38): ENSG00000013503
EnsemblGeneIds (GRCh37): ENSG00000013503
OMIM: 614366, Gene2Phenotype
POLR3B is in 8 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Ataxia is a presenting feature.
Sources: Expert list
Created: 12 Sep 2020, 6:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 614381

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 614381
OMIM
614366
Clinvar variants
Variants in POLR3B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: POLR3B was added gene: POLR3B was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: POLR3B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLR3B were set to 22036171; 22036172 Phenotypes for gene: POLR3B were set to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 614381 Review for gene: POLR3B was set to GREEN gene: POLR3B was marked as current diagnostic