POLR3B Chromosome 12
RNA polymerase III subunit B
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What This Gene Does
This gene encodes the second largest subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The largest subunit and the encoded protein form the catalytic center of RNA polymerase III. Mutations in this gene are a cause of hypomyelinating leukodystrophy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
RNA polymerase subunits
Locus Type
gene with protein product
Location
12q23.3
Ensembl
ENSG00000013503
Associated Conditions (21)
Hypogonadotropic hypogonadism
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
POLR3B-related disorder
See cases
Charcot-Marie-Tooth disease
demyelinating
IIA 1I
POLR-related leukodystrophy
Hypogonadotropic hypogonadism 7 with or without anosmia
Leukodystrophy
hypomyelinating
7
with or without oligodontia and/or hypogonadotropic hypogonadism
Amenorrhea
Inborn genetic diseases
Intellectual disability
Thyroid cancer
nonmedullary
1
Familial cancer of breast
+1 more conditions
Key Variants
RS1414538226
association
Hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism
Health Risk
RS146836923
association
Hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism
Health Risk
RS2137036897
association
Hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism
Health Risk
RS1337382297
Conflicting classifications of pathogenicity
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, POLR3B-related disorder, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Health Risk
RS139376910
Conflicting classifications of pathogenicity
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Health Risk
RS141030994
Conflicting classifications of pathogenicity
See cases, POLR3B-related disorder, See cases
Health Risk
RS142517808
Conflicting classifications of pathogenicity
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Health Risk
RS1442212683
Conflicting classifications of pathogenicity
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Charcot-Marie-Tooth disease, demyelinating
Health Risk
RS145991322
Conflicting classifications of pathogenicity
See cases, POLR3B-related disorder, See cases
Health Risk
RS146513209
Conflicting classifications of pathogenicity
POLR-related leukodystrophy, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, POLR-related leukodystrophy
Health Risk
RS150800622
Conflicting classifications of pathogenicity
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Health Risk
RS199504211
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 7 with or without anosmia, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Leukodystrophy
Health Risk
All Variants (92)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2542110126 | Health Risk | Likely pathogenic | — |
| RS2542229310 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease, demyelinating, IIA 1I |
| RS2542252314 | Health Risk | Likely pathogenic | — |
| RS267608686 | Health Risk | Likely pathogenic | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism |
| RS755312623 | Health Risk | Likely pathogenic | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism |
| RS758437925 | Health Risk | Likely pathogenic | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism |
| RS773891661 | Health Risk | Likely pathogenic | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism |
| RS797045895 | Health Risk | Likely pathogenic | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism |
| RS929121557 | Health Risk | Likely pathogenic | — |
| RS965079938 | Health Risk | Likely pathogenic | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism |
| RS1064793739 | Health Risk | Pathogenic | — |
| RS1261509815 | Health Risk | Pathogenic | — |
| RS148879912 | Health Risk | Pathogenic | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism |
| RS2036577352 | Health Risk | Pathogenic | — |
| RS2037218302 | Health Risk | Pathogenic | POLR3B-related disorder, Charcot-Marie-Tooth disease, demyelinating |
| RS2037451732 | Health Risk | Pathogenic | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism |
| RS2037697286 | Health Risk | Pathogenic | — |
| RS2136887072 | Health Risk | Pathogenic | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism |
| RS2137001936 | Health Risk | Pathogenic | — |
| RS2137001947 | Health Risk | Pathogenic | — |
| RS2137002084 | Health Risk | Pathogenic | — |
| RS2137005362 | Health Risk | Pathogenic | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism |
| RS2542118910 | Health Risk | Pathogenic | — |
| RS2542167959 | Health Risk | Pathogenic | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism |
| RS2542232626 | Health Risk | Pathogenic | — |
| RS267608683 | Health Risk | Pathogenic | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism |
| RS267608684 | Health Risk | Pathogenic | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism |
| RS267608685 | Health Risk | Pathogenic | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism |
| RS267608688 | Health Risk | Pathogenic | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism |
| RS267608689 | Health Risk | Pathogenic | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism |
| RS753943393 | Health Risk | Pathogenic | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Familial cancer of breast, Colon adenocarcinoma |
| RS775141057 | Health Risk | Pathogenic | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Leukodystrophy, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism |
| RS1057520785 | Health Risk | Pathogenic/Likely pathogenic | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism |
| RS138249161 | Health Risk | Pathogenic/Likely pathogenic | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism 7 with or without anosmia, Leukodystrophy |
| RS1437442253 | Health Risk | Pathogenic/Likely pathogenic | POLR-related leukodystrophy, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, POLR-related leukodystrophy |
| RS1592752356 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS201401034 | Health Risk | Pathogenic/Likely pathogenic | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism |
| RS2038648611 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease, demyelinating, IIA 1I |
| RS747912710 | Health Risk | Pathogenic/Likely pathogenic | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Charcot-Marie-Tooth disease, demyelinating |
| RS763154774 | Health Risk | Pathogenic/Likely pathogenic | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism |
| RS767558518 | Health Risk | Pathogenic/Likely pathogenic | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Charcot-Marie-Tooth disease, demyelinating |
| RS774526181 | Health Risk | Pathogenic/Likely pathogenic | Hypogonadotropic hypogonadism 7 with or without anosmia, Leukodystrophy, hypomyelinating |