TCF12 gene related symptoms and diseases
All the information presented here about the TCF12 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TCF12 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Uncommon - Between 30% and 50% cases |
Brachydactyly | Uncommon - Between 30% and 50% cases |
Hearing impairment | Uncommon - Between 30% and 50% cases |
Strabismus | Uncommon - Between 30% and 50% cases |
Global developmental delay | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with TCF12 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Midface retrusion
Rarely - Less than 30% cases
- Partial agenesis of the corpus callosum
- Anterior plagiocephaly
- Neoplasm
- Chondrosarcoma
- Brachycephaly
- Soft tissue neoplasm
- Hypertelorism
And 21 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TCF12 gene
Here you will find a list of rare diseases related to the TCF12. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ISOLATED PLAGIOCEPHALY
Alternate names
ISOLATED PLAGIOCEPHALY Is also known as non-syndromic unicoronal synostosis, synostotic plagiocephaly
Description
Isolated synostotic plagiocephaly (SP) is a form of nonsyndromic craniosynostosis characterized by premature fusion of one coronal suture leading to skull deformity and facial asymmetry.
Most common symptoms of ISOLATED PLAGIOCEPHALY
- Intellectual disability
- Global developmental delay
- Hearing impairment
- Strabismus
- Macrocephaly
More info about ISOLATED PLAGIOCEPHALY
SOURCES: ORPHANET
CRANIOSYNOSTOSIS 3; CRS3
Description
Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Craniosynostosis-3 includes coronal, sagittal, and multisuture forms (Sharma et al., 2013).For discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).
Most common symptoms of CRANIOSYNOSTOSIS 3; CRS3
- Global developmental delay
- Strabismus
- Ptosis
- Brachydactyly
- Syndactyly
More info about CRANIOSYNOSTOSIS 3; CRS3
SOURCES: OMIM
EXTRASKELETAL MYXOID CHONDROSARCOMA
Alternate names
EXTRASKELETAL MYXOID CHONDROSARCOMA Is also known as emc
Description
Extraskeletal myxoid chondrosarcoma is a rare soft tissue neoplasm of chondroblastic origin. The tumors are most commonly found in middle-aged and elderly individuals, are more common among men, and are often detected as deep-seated lesions in the extremities. Despite their relatively low-grade malignancy, recurrence and metastasis may appear many years after the initial diagnosis. Histologic tissue section examination reveals a mixture of cellular and myxoid stromal components (Panagopoulos et al., 2002).
Most common symptoms of EXTRASKELETAL MYXOID CHONDROSARCOMA
- Neoplasm
- Chondrosarcoma
- Soft tissue neoplasm
More info about EXTRASKELETAL MYXOID CHONDROSARCOMA
ISOLATED BRACHYCEPHALY
Alternate names
ISOLATED BRACHYCEPHALY Is also known as non-syndromic bicoronal synostosis
Description
Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges.
Most common symptoms of ISOLATED BRACHYCEPHALY
- Intellectual disability
- Hearing impairment
- Hypertelorism
- Brachydactyly
- Midface retrusion
More info about ISOLATED BRACHYCEPHALY
SOURCES: ORPHANET
Search interest in TCF12
Potential gene panels for TCF12 gene
Craniofacial Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Craniofacial Sequencing Panel that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 ALX1
More info about this panelCraniofacial Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Craniofacial Deletion/Duplication Panel that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 ALX1
More info about this panelCraniosynostosis Panel
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Craniosynostosis that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45
More info about this panelCraniosynostosis Sequence Analysis Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniosynostosis Sequence Analysis that also includes the following genes: RUNX2 SKI TCF12 TWIST1 ZIC1 IFT122 RAB23 CD96 SPECC1L WDR35
More info about this panelCraniofacial Del/Dup Panel Panel
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 panelCraniosynostosis Del/Dup Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniosynostosis Del/Dup Panel that also includes the following genes: RUNX2 SKI TCF12 TWIST1 ZIC1 IFT122 RAB23 CD96 SPECC1L WDR35
More info about this panelCraniosynostosis Seq + Del/Dup Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniosynostosis Seq + Del/Dup Panel that also includes the following genes: RUNX2 SKI TCF12 TWIST1 ZIC1 IFT122 RAB23 CD96 SPECC1L WDR35
More info about this panelCraniofacial Seq + Del/Dup Panel Panel
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 panelCraniofacial Seq Analysis Panel
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 panelCraniosynostosis (NGS panel for 30 genes) Panel
By CGC Genetics Craniosynostosis (NGS panel for 30 genes) that also includes the following genes: BMP4 SKI TCF12 TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 IRX5 TMCO1
More info about this panelCraniosynostosis 3 (sequence analysis of TCF12 gene) Panel
By CGC Genetics
This panel specifically test the TCF12 gene.
More info about this panelCraniosynostosis and Related Disorders Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Craniosynostosis and Related Disorders Sequencing Panel with CNV Detection that also includes the following genes: TCF12 TWIST1 FGFR1 FGFR2 FGFR3
More info about this panelFacial Dysostosis Related Disorders Sequencing Panel with CNV Detection Panel
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 panelCraniosynostosis via TCF12 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the TCF12 gene.
More info about this panelSkeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
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 panelCraniosynostosis core NGS panel Panel
By Connective Tissue Gene Tests Craniosynostosis core NGS panel that also includes the following genes: TCF12 TWIST1 FGFR1 FGFR2 FGFR3
More info about this panelCraniosynostosis core Comprehensive panel Panel
By Connective Tissue Gene Tests Craniosynostosis core Comprehensive panel that also includes the following genes: TCF12 TWIST1 FGFR1 FGFR2 FGFR3
More info about this panelCraniosynostosis core Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Craniosynostosis core Deletion / Duplication panel that also includes the following genes: TCF12 TWIST1 FGFR1 FGFR2 FGFR3
More info about this panelCraniosynostosis Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Craniosynostosis Deletion / Duplication panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19
More info about this panelCraniosynostosis Comprehensive panel Panel
By Connective Tissue Gene Tests Craniosynostosis Comprehensive panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19
More info about this panelCraniosynostosis NGS panel Panel
By Connective Tissue Gene Tests Craniosynostosis NGS panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19
More info about this panelMental retardation - different panels Panel
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 panelCraniosynostosis syndromes Panel Panel
By CeGaT GmbH Craniosynostosis syndromes Panel that also includes the following genes: SKI TCF12 TWIST1 IFT122 RAB23 WDR19 FREM1 WDR35 IFT43 EFNB1
More info about this panelqGenEx Craniofacial Anomalies Panel
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 panelTCF12 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TCF12 gene.
More info about this panelHemato-oncology chromosomal microarray Panel
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Hemato-oncology chromosomal microarray that also includes the following genes: BLM BRAF BRCA1 BRCA2 SMARCB1 KDM5C SMO ABI1 SSX1 SSX2
More info about this panelCraniosynostosis Panel Panel
By Blueprint Genetics Craniosynostosis Panel that also includes the following genes: BMP4 SKI SOX10 TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23
More info about this panelComprehensive Skeletal Dysplasias and Disorders Panel Panel
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 panelComprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
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 panelCaris MI TumorSeek 592-Gene NGS Panel Panel
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panelCRANIOSYNOSTOSIS NGS PANEL Panel
By Laboratorio de Genetica Clinica SL CRANIOSYNOSTOSIS NGS PANEL that also includes the following genes: BMP4 SKI TCF12 TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 WDR19 FREM1
More info about this panelCraniosynostosis Type 3 , Sequencing TCF12 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the TCF12 gene.
More info about this panelTempus xO assay Panel
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
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