POLR3B gene related symptoms and diseases

All the information presented here about the POLR3B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to POLR3B gene

Symptoms // Phenotype % Cases
Ataxia Common - Between 50% and 80% cases
Hypodontia Uncommon - Between 30% and 50% cases
CNS hypomyelination Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with POLR3B gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Nystagmus
  • Oligodontia
  • Rarely - Less than 30% cases

  • Arnold-Chiari malformation
  • Impulsivity
  • Obsessive-compulsive behavior
  • Self-injurious behavior
  • Incoordination
  • Hyperkinesis

And 65 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to POLR3B gene

Here you will find a list of rare diseases related to the POLR3B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HYPOMYELINATION-HYPOGONADOTROPIC HYPOGONADISM-HYPODONTIA SYNDROME


Alternate names

HYPOMYELINATION-HYPOGONADOTROPIC HYPOGONADISM-HYPODONTIA SYNDROME Is also known as 4h syndrome

Description

Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome is characterised by the association of demyelinating leukodystrophy with progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia.

Most common symptoms of HYPOMYELINATION-HYPOGONADOTROPIC HYPOGONADISM-HYPODONTIA SYNDROME

  • Ataxia
  • Hypodontia
  • Hypergonadotropic hypogonadism
  • CNS hypomyelination


More info about HYPOMYELINATION-HYPOGONADOTROPIC HYPOGONADISM-HYPODONTIA SYNDROME

SOURCES: ORPHANET

LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD8


Description

Hypomyelinating leukodystrophy-8 is an autosomal recessive neurologic disorder characterized by early childhood onset of cerebellar ataxia and mild intellectual disabilities associated with diffuse hypomyelination apparent on brain MRI. Variable features include oligodontia and/or hypogonadotropic hypogonadism (summary by Tetreault et al., 2011).See also HLD7 (OMIM ), which has similar features and is caused by mutation in the POLR3A gene (OMIM ) on chromosome 10q22. The POLR3A and POLR3B genes encode the 2 largest subunits of RNA polymerase III.For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}.

Most common symptoms of LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD8

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


More info about LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD8

SOURCES: OMIM

GILLES DE LA TOURETTE SYNDROME; GTS


Alternate names

GILLES DE LA TOURETTE SYNDROME; GTS Is also known as ts, tourette syndrome, tourette disorder

Description

Tourette syndrome is a neurobehavioral disorder manifest particularly by motor and vocal tics and associated with behavioral abnormalities. Tics are sudden, brief, intermittent, involuntary or semi-voluntary movements (motor tics) or sounds (phonic or vocal tics). They typically consist of simple, coordinated, repetitive movements, gestures, or utterances that mimic fragments of normal behavior. Motor tics may range from simple blinking, nose twitching, and head jerking to more complex throwing, hitting, or making rude gestures. Phonic tics include sniffling, throat clearing, blowing, coughing, echolalia, or coprolalia. Males are affected about 3 times more often than females, and onset usually occurs between 3 and 8 years of age. By age 18 years, more than half of affected individuals are free of tics, but they may persist into adulthood (review by Jankovic, 2001).

Most common symptoms of GILLES DE LA TOURETTE SYNDROME; GTS

  • Behavioral abnormality
  • Depressivity
  • Pectus excavatum
  • Myoclonus
  • Hyperactivity


More info about GILLES DE LA TOURETTE SYNDROME; GTS

SOURCES: MESH OMIM

ENDOSTEAL SCLEROSIS-CEREBELLAR HYPOPLASIA SYNDROME


Description

Endosteal sclerosis-cerebellar hypoplasia syndrome is characterized by congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy, and dysarthria. It is appears to be transmitted as an autosomal recessive trait.

Most common symptoms of ENDOSTEAL SCLEROSIS-CEREBELLAR HYPOPLASIA SYNDROME

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


More info about ENDOSTEAL SCLEROSIS-CEREBELLAR HYPOPLASIA SYNDROME

SOURCES: MESH ORPHANET OMIM


Potential gene panels for POLR3B gene

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel

POLIII- Related Leukodystrophies Panel

United States.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children POLIII- Related Leukodystrophies that also includes the following genes: POLR3A POLR3B

More info about this panel

POLR3B. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the POLR3B gene.

More info about this panel

Leukodystrophy hypomyelinating type 8 (sequence analysis of POLR3B gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the POLR3B gene.

More info about this panel

Leukodystrophy hypomyelinating (NGS panel for 3 genes) Panel

Portugal.

By CGC Genetics Leukodystrophy hypomyelinating (NGS panel for 3 genes) that also includes the following genes: TUBB4A POLR3A POLR3B

More info about this panel

Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection that also includes the following genes: SCP2 AIMP1 SDHB SLC16A2 SLC17A5 SLC25A1 SLC25A12 SLC25A4 SOX10 SPG11

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Epilepsy and Hypomyelination Panel

Germany.

By MGZ Medical Genetics Center Epilepsy and Hypomyelination that also includes the following genes: SPTAN1 TUBB4A FAM126A POLR3A POLR3B EIF2B3 FOLR1 PLP1

More info about this panel

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

Brain Malformations / Neuronal Migration Disorders Panel

Germany.

By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2

More info about this panel

Epilepsy Panel

Germany.

By MGZ Medical Genetics Center Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD

More info about this panel

Leukodystrophy hypomyelinating, type 8 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the POLR3B gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Leukodystrophy / Leukencephalopathy Panel Panel

Germany.

By CeGaT GmbH Leukodystrophy / Leukencephalopathy Panel that also includes the following genes: AIMP1 SOX10 TREX1 SAMHD1 MLC1 GJC2 RNASEH2A CLCN2 SUMF1 L2HGDH

More info about this panel

Leukodystrophy and Leukoencephalopathy Panel Panel

Germany.

By CeGaT GmbH Leukodystrophy and Leukoencephalopathy Panel that also includes the following genes: AIMP1 SOX10 TREX1 SAMHD1 MLC1 GJC2 RNASEH2A CLCN2 SUMF1 L2HGDH

More info about this panel

Ataxia and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1

More info about this panel

Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Leukodystrophy / Leukencephalopathy and differential diagnoses Panel that also includes the following genes: BCS1L SCO2 SCP2 AIMP1 SDHA SLC16A2 SLC17A5 SLC25A1 SLC25A12 SOX10

More info about this panel

Leukodystrophy / Leukoencephalopathy Panel Panel

Germany.

By CeGaT GmbH Leukodystrophy / Leukoencephalopathy Panel that also includes the following genes: SCP2 AIMP1 SLC16A2 SLC17A5 SOX10 ACOX1 TREX1 TYROBP VPS11 SAMHD1

More info about this panel

Leukodystrophy and Leukoencephalopathy Panel

Estonia.

By Asper Biogene Asper Biogene LLC Leukodystrophy and Leukoencephalopathy that also includes the following genes: SCP2 AIMP1 SOX10 TREX1 SAMHD1 MLC1 GJC2 RNASEH2A CLCN2 SUMF1

More info about this panel

Leukodistrophy Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Leukodistrophy that also includes the following genes: SCP2 AIMP1 SDHA SLC16A2 SOX10 TREX1 TYROBP BEST1 SAMHD1 MLC1

More info about this panel

POLR3B - Gene sequencing Panel

Netherlands.

By Genome Diagnostics VU University Medical Center

This panel specifically test the POLR3B gene.

More info about this panel

POLR3B Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the POLR3B gene.

More info about this panel

Leukodystrophy and Leukoencephalopathy Panel Panel

Finland.

By Blueprint Genetics Leukodystrophy and Leukoencephalopathy Panel that also includes the following genes: SCO1 AIMP1 SOX10 TREX1 GFM1 NDUFAF5 SAMHD1 NFU1 MRPL44 MLC1

More info about this panel

Comprehensive Epilepsy Panel Panel

Finland.

By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1

More info about this panel

Hypomyelination - hypogonadotropic hypogonadism - hypodontia Panel

Spain.

By Bioarray

This panel specifically test the POLR3B gene.

More info about this panel

Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia, Sequencing POLR3B Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the POLR3B gene.

More info about this panel

Leukodystrophies , Panel Massive Sequencing (NGS) 57 genes Panel

Spain.

By Reference Laboratory Genetics Leukodystrophies , Panel Massive Sequencing (NGS) 57 genes that also includes the following genes: AIMP1 SDHA SLC16A2 SOX10 TREX1 TYROBP BEST1 SAMHD1 MLC1 GJC2

More info about this panel

Kallmann Syndrome , Panel Massive Sequencing (NGS) 20 Genes Panel

Spain.

By Reference Laboratory Genetics Kallmann Syndrome , Panel Massive Sequencing (NGS) 20 Genes that also includes the following genes: SEMA3A TAC3 TACR3 WDR11 PROKR2 PROK2 CHD7 NSMF POLR3B FGF8

More info about this panel

Leukodystrophy: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Leukodystrophy: gene sequencing panel that also includes the following genes: POLR1C POLR3A POLR3B

More info about this panel


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