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.
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
Search interest in POLR1C
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Spain.
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 Spain.
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 United States.
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 United States.
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 United States.
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 Portugal.
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 Portugal.
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 Portugal.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
Single gene testing POLR1C Panel
Germany.
By CeGaT GmbH
This panel specifically test the POLR1C gene.
More info about this panel Germany.
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 Germany.
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 Estonia.
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 Spain.
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 Spain.
POLR1C - Gene sequencing Panel
Netherlands.
By Genome Diagnostics VU University Medical Center
This panel specifically test the POLR1C gene.
More info about this panel Netherlands.
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 United States.
POLR1C Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the POLR1C gene.
More info about this panel United States.
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 Finland.
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 Finland.
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 Finland.
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 Finland.
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 Finland.
Treacher-Collins syndrome type 3 Panel
Spain.
By Bioarray
This panel specifically test the POLR1C gene.
More info about this panel Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Canada.
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 Canada.
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 Canada.
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