POLR1C gene related symptoms and diseases

All the information presented here about the POLR1C gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to POLR1C gene

Symptoms // Phenotype % Cases
Microtia Uncommon - Between 30% and 50% cases
Conductive hearing impairment Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
Malar flattening Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with POLR1C gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Abnormality of the dentition
  • CNS hypomyelination
  • Downslanted palpebral fissures
  • Global developmental delay
  • Ataxia
  • Rarely - Less than 30% cases

  • Glossoptosis
  • Facial cleft
  • Preauricular skin tag

And 67 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to POLR1C gene

Here you will find a list of rare diseases related to the POLR1C. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


LEUKODYSTROPHY, HYPOMYELINATING, 11; HLD11


Description

Hypomyelinating leukodystrophy-11 is an autosomal recessive neurologic disorder characterized by delayed psychomotor development and other neurologic features associated with hypomyelination on brain imaging. Some patients may have additional nonneurologic features, particularly dental abnormalities and possibly hypogonadotropic hypogonadism (summary by Thiffault et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

Most common symptoms of LEUKODYSTROPHY, HYPOMYELINATING, 11; HLD11

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Spasticity
  • Myopia


More info about LEUKODYSTROPHY, HYPOMYELINATING, 11; HLD11

SOURCES: OMIM

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

TREACHER-COLLINS SYNDROME


Alternate names

TREACHER-COLLINS SYNDROME Is also known as franceschetti-klein syndrome, mandibulofacial dysostosis without limb anomalies

Description

Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects.

Most common symptoms of TREACHER-COLLINS SYNDROME

  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Micrognathia
  • Strabismus


More info about TREACHER-COLLINS SYNDROME

SOURCES: ORPHANET

TREACHER COLLINS SYNDROME 3; TCS3


Alternate names

TREACHER COLLINS SYNDROME 3; TCS3 Is also known as mandibulofacial dysostosis, treacher collins type, autosomal recessive

Description

Treacher Collins syndrome is a disorder of craniofacial development characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss (Dauwerse et al., 2011).For additional phenotypic information and a discussion of genetic heterogeneity of Treacher Collins syndrome, see TCS1 (OMIM ).

Most common symptoms of TREACHER COLLINS SYNDROME 3; TCS3

  • Hearing impairment
  • Micrognathia
  • Cleft palate
  • Downslanted palpebral fissures
  • Malar flattening


More info about TREACHER COLLINS SYNDROME 3; TCS3

SOURCES: MESH OMIM


Potential gene panels for POLR1C gene

Hearing Loss Advanced Sequencing and CNV Evaluation Panel

United States.

By Athena Diagnostics Inc Hearing Loss Advanced Sequencing and CNV Evaluation that also includes the following genes: BCS1L ROR1 SALL1 SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SLC22A4 SNAI2

More info about this panel

Treacher Collins Syndrome NGS Panel Panel

United States.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital Treacher Collins Syndrome NGS Panel that also includes the following genes: TCOF1 POLR1C POLR1D

More info about this panel

OtoSCOPE Panel

United States.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics OtoSCOPE that also includes the following genes: ROR1 SIX1 SIX5 SLC22A4 SNAI2 SMPX SOX10 TBX1 TWNK TCOF1

More info about this panel

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

Facial Dysostosis Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Facial Dysostosis Sequencing Panel that also includes the following genes: SF3B4 TCOF1 ALX1 EVC2 POLR1C POLR1D CHD7 DHODH ZSWIM6 EFTUD2

More info about this panel

POLR1C Panel

United States.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children

This panel specifically test the POLR1C gene.

More info about this panel

POLR1C. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the POLR1C gene.

More info about this panel

TCOF1, POLR1C, POLR1D. NextGeneDx.Complete sequencing by NGS Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica TCOF1, POLR1C, POLR1D. NextGeneDx.Complete sequencing by NGS that also includes the following genes: TCOF1 POLR1C POLR1D

More info about this panel

Craniofacial Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Del/Dup Panel that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1

More info about this panel

Craniofacial Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Seq + Del/Dup Panel that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1

More info about this panel

Craniofacial Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Seq Analysis that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1

More info about this panel

Treacher-Collins syndrome 3 (sequence analysis of POLR1C gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the POLR1C gene.

More info about this panel

Syndromic deafness (NGS panel for 62 genes) Panel

Portugal.

By CGC Genetics Syndromic deafness (NGS panel for 62 genes) that also includes the following genes: SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 TCOF1 TFAP2A TIMM8A TYR

More info about this panel

Syndromic and non syndromic deafness (NGS panel for 127 genes) Panel

Portugal.

By CGC Genetics Syndromic and non syndromic deafness (NGS panel for 127 genes) that also includes the following genes: SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SNAI2 SMPX SOX10 TCOF1 TECTA

More info about this panel

Treacher Collins Syndrome/Mandibulofacial Dysostosis/Miller syndrome/Acrofacial Dysostosis, Nagar Type Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Treacher Collins Syndrome/Mandibulofacial Dysostosis/Miller syndrome/Acrofacial Dysostosis, Nagar Type Sequencing Panel with CNV Detection that also includes the following genes: SF3B4 TCOF1 POLR1C POLR1D DHODH EFTUD2

More info about this panel

Facial Dysostosis Related Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Facial Dysostosis Related Disorders Sequencing Panel with CNV Detection that also includes the following genes: SF3B4 SMC1A TCF12 TCOF1 TWIST1 HDAC8 SRCAP POLR1C POLR1D CREBBP

More info about this panel

Treacher Collins Syndrome via POLR1C Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the POLR1C gene.

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

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4

More info about this panel

Treacher Collins syndrome and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Treacher Collins syndrome and related disorders NGS panel that also includes the following genes: SF3B4 TCOF1 POLR1A POLR1C POLR1D DHODH TXNL4A EFTUD2 EDNRA

More info about this panel

Treacher Collins syndrome and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Treacher Collins syndrome and related disorders Deletion / Duplication panel that also includes the following genes: SF3B4 TCOF1 POLR1A POLR1C POLR1D DHODH TXNL4A EFTUD2 EDNRA

More info about this panel

Treacher Collins syndrome and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Treacher Collins syndrome and related disorders Comprehensive panel that also includes the following genes: SF3B4 TCOF1 POLR1A POLR1C POLR1D DHODH TXNL4A EFTUD2 EDNRA

More info about this panel

Treacher Collins syndrome core NGS panel Panel

United States.

By Connective Tissue Gene Tests Treacher Collins syndrome core NGS panel that also includes the following genes: TCOF1 POLR1C POLR1D

More info about this panel

Treacher Collins syndrome core Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Treacher Collins syndrome core Comprehensive panel that also includes the following genes: TCOF1 POLR1C POLR1D

More info about this panel

Treacher Collins syndrome core Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Treacher Collins syndrome core Deletion / Duplication panel that also includes the following genes: TCOF1 POLR1C POLR1D

More info about this panel

Treacher Collins syndrome 3 Deletion / Duplication test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the POLR1C gene.

More info about this panel

Treacher Collins syndrome 3 Comprehensive test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the POLR1C gene.

More info about this panel

Treacher Collins syndrome 3 Sequencing test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the POLR1C gene.

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

Mental Retardation and Dysmorphology - panels Panel

Germany.

By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Syndromal Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Syndromic Hearing Loss Panel Panel

Germany.

By CeGaT GmbH Syndromic Hearing Loss Panel that also includes the following genes: SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 TCOF1 TFAP2A TIMM8A TYR

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

Single gene testing POLR1C Panel

Germany.

By CeGaT GmbH

This panel specifically test the POLR1C gene.

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

Treacher Collins Syndrome Panel

Estonia.

By Asper Biogene Asper Biogene LLC Treacher Collins Syndrome that also includes the following genes: TCOF1 POLR1C POLR1D

More info about this panel

qCarrier Plus Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH

More info about this panel

qGenEx Craniofacial Anomalies Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3

More info about this panel

POLR1C - Gene sequencing Panel

Netherlands.

By Genome Diagnostics VU University Medical Center

This panel specifically test the POLR1C gene.

More info about this panel

Hearing Loss: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: Sequencing Panel that also includes the following genes: RPS6KA3 SALL1 SIX1 SIX5 SMPX SOX10 BTD TCOF1 TECTA TIMM8A

More info about this panel

POLR1C Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the POLR1C gene.

More info about this panel

Comprehensive Hearing Loss and Deafness Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hearing Loss and Deafness Panel that also includes the following genes: BCS1L RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10

More info about this panel

Facial Dysostosis and Related Disorders Panel Panel

Finland.

By Blueprint Genetics Facial Dysostosis and Related Disorders Panel that also includes the following genes: SF3B4 SMC1A TCOF1 TWIST1 UBE2A HDAC8 SRCAP EVC2 POLR1C POLR1D

More info about this panel

Syndromic Hearing Loss Panel Panel

Finland.

By Blueprint Genetics Syndromic Hearing Loss Panel that also includes the following genes: BCS1L SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 BTD TWNK

More info about this panel

Comprehensive Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX

More info about this panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D

More info about this panel

Treacher-Collins syndrome type 3 Panel

Spain.

By Bioarray

This panel specifically test the POLR1C gene.

More info about this panel

TREACHER COLLINS SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL TREACHER COLLINS SYNDROME that also includes the following genes: TCOF1 POLR1C POLR1D

More info about this panel

Treacher Collins Syndrome Type 3 , Sequencing POLR1C Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the POLR1C gene.

More info about this panel

Facial Dysostosis Related Disorders , Panel Massive Sequencing (NGS) 10 Genes Panel

Spain.

By Reference Laboratory Genetics Facial Dysostosis Related Disorders , Panel Massive Sequencing (NGS) 10 Genes that also includes the following genes: SF3B4 TCOF1 POLR1C POLR1D CHD7 MIR17HG DHODH EFTUD2 EVC MYCN

More info about this panel

Treacher Collins Syndrome, Panel Massive Sequencing (NGS) TCOF1,POLR1C,POLR1D Genes Panel

Spain.

By Reference Laboratory Genetics Treacher Collins Syndrome, Panel Massive Sequencing (NGS) TCOF1,POLR1C,POLR1D Genes that also includes the following genes: TCOF1 POLR1C POLR1D

More info about this panel

Treacher Collins Syndrome: gene deletion/duplication panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Treacher Collins Syndrome: gene deletion/duplication panel that also includes the following genes: TCOF1 POLR1C POLR1D

More info about this panel

Treacher Collins Syndrome: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Treacher Collins Syndrome: gene sequencing panel that also includes the following genes: TCOF1 POLR1C POLR1D

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


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like F5 IKBKG NOS3 WIPF1 HIKESHI LAMB2 CHST14

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more