SIX3 gene related symptoms and diseases
All the information presented here about the SIX3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SIX3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Seizures | Uncommon - Between 30% and 50% cases |
| Holoprosencephaly | Uncommon - Between 30% and 50% cases |
| Microcephaly | Uncommon - Between 30% and 50% cases |
| Strabismus | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with SIX3 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Agenesis of corpus callosum
Rarely - Less than 30% cases
- Narrow nasal bridge
- Hypotelorism
- Coloboma
- Cleft lip
- Single median maxillary incisor
- Short nose
- Anteverted nares
And 89 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SIX3 gene
Here you will find a list of rare diseases related to the SIX3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HOLOPROSENCEPHALY 2; HPE2
Description
A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene.
Most common symptoms of HOLOPROSENCEPHALY 2; HPE2
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about HOLOPROSENCEPHALY 2; HPE2
SCHIZENCEPHALY
Description
Brunelli et al. (1996) described schizencephaly as an extremely rare congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. The clefts are lined with gray matter and most commonly involve the parasylvian regions (Wolpert and Barnes, 1992). Large portions of the cerebral hemispheres may be absent and replaced by cerebrospinal fluid. Two types of schizencephaly have been described, depending on the size of the area involved and the separation of the cleft lips (Wolpert and Barnes, 1992). Type I schizencephaly consists of a fused cleft. This fused pial-ependymal seam forms a furrow in the developing brain, and is lined by polymicrogyric gray matter. In type II schizencephaly, there is a large defect, a holohemispheric cleft in the cerebral cortex filled with fluid and lined by polymicrogyric gray matter. The clinical manifestations depend on the severity of the lesion. Patients with type I are often almost normal; they may have seizures and spasticity. In type II abnormalities, there is usually mental retardation, seizures, hypotonia, spasticity, inability to walk or speak, and blindness.Schizencephaly may be part of the larger phenotypic spectrum of holoprosencephaly (HPE; see {236100}).
Most common symptoms of SCHIZENCEPHALY
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about SCHIZENCEPHALY
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME
Alternate names
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME Is also known as single central maxillary incisor, smmci, fused incisors, single upper central incisor, incisors, fused
Description
Solitary median maxillary central incisor syndrome (SMMCI) is a complex disorder consisting of multiple, mainly midline, defects of development resulting from unknown factor(s) operating in utero from about the 35th-38th day after conception.
Most common symptoms of SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME
- Intellectual disability
- Seizures
- Short stature
- Microcephaly
- Scoliosis
More info about SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME
SEMILOBAR HOLOPROSENCEPHALY
Description
Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.
More info about SEMILOBAR HOLOPROSENCEPHALY
SOURCES: ORPHANET
SEPTOPREOPTIC HOLOPROSENCEPHALY
Alternate names
SEPTOPREOPTIC HOLOPROSENCEPHALY Is also known as septopreoptic hpe
Description
Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion.
More info about SEPTOPREOPTIC HOLOPROSENCEPHALY
SOURCES: ORPHANET
ACQUIRED SCHIZENCEPHALY
LOBAR HOLOPROSENCEPHALY
Description
Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally.
More info about LOBAR HOLOPROSENCEPHALY
SOURCES: ORPHANET
ALOBAR HOLOPROSENCEPHALY
Description
Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure.
More info about ALOBAR HOLOPROSENCEPHALY
SOURCES: ORPHANET
MIDLINE INTERHEMISPHERIC VARIANT OF HOLOPROSENCEPHALY
Alternate names
MIDLINE INTERHEMISPHERIC VARIANT OF HOLOPROSENCEPHALY Is also known as mihf, mihv, middle interhemispheric variant of holoprosencephaly, mih, mih type hpe, syntelencephaly, middle interhemispheric fusion variant
Description
Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter.
More info about MIDLINE INTERHEMISPHERIC VARIANT OF HOLOPROSENCEPHALY
SOURCES: ORPHANET
Search interest in SIX3
Potential gene panels for SIX3 gene
Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations Panel
United States.
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations that also includes the following genes: SHH STIL SIX3 TUBA8 SLC25A19 DEAF1 ARFGEF2 RAB3GAP1 CENPJ NDE1
More info about this panel United States.
Epilepsy Advanced Sequencing and CNV Evaluation Panel
United States.
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5
More info about this panel United States.
NGS Epilepsy/Seizure Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Epilepsy/Seizure Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
More info about this panel United States.
Comprehensive Brain Malformation Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Brain Malformation Panel that also includes the following genes: SHH STIL SIX3 SLC9A6 SOX2 CDKL5 TGIF1 MED12 CEP41 TUBA8
More info about this panel United States.
Holoprosencephaly Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Holoprosencephaly that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
More info about this panel United States.
Septo-Optic Dysplasia and Schizencephaly Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Septo-Optic Dysplasia and Schizencephaly that also includes the following genes: SHH SIX3 SOX2 COL4A1 EMX2 HESX1
More info about this panel United States.
Holoprosencephaly Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Holoprosencephaly Sequencing Panel that also includes the following genes: SHH STIL SIX3 TGIF1 ZIC2 CDON FGF8 FGFR1 GLI2 PTCH1
More info about this panel United States.
Holoprosencephaly Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Holoprosencephaly Deletion/Duplication Panel that also includes the following genes: SHH STIL SIX3 TGIF1 ZIC2 CDON FGF8 FGFR1 GLI2 PTCH1
More info about this panel United States.
SIX3 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the SIX3 gene.
More info about this panel Germany.
Holoprosencephaly Panel, Sequencing and Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Holoprosencephaly Panel, Sequencing and Deletion/Duplication that also includes the following genes: SHH SIX3 TGIF1 ZIC2 DISP1 FGF8 FOXH1 GLI2 NODAL PTCH1
More info about this panel United States.
Holoprosencephaly Panel, Sequencing and Deletion/Duplication, Fetal Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Holoprosencephaly Panel, Sequencing and Deletion/Duplication, Fetal that also includes the following genes: SHH SIX3 TGIF1 ZIC2 DISP1 FGF8 FOXH1 GLI2 NODAL PTCH1
More info about this panel United States.
SIX3. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SIX3 gene.
More info about this panel Spain.
Holoprosencephaly (deletions/ duplications on PTCH, SHH, ZIC2, SIX3, TGIF, TMEM1 and FBXW11 genes) Panel
Portugal.
By CGC Genetics Holoprosencephaly (deletions/ duplications on PTCH, SHH, ZIC2, SIX3, TGIF, TMEM1 and FBXW11 genes) that also includes the following genes: SHH SIX3 TGIF1 TRAPPC10 ZIC2 FBXW11 PTCH1
More info about this panel Portugal.
Holoprosencephaly 2 (sequence analysis of SIX3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SIX3 gene.
More info about this panel Portugal.
Holoprosencephaly (NGS panel for 9 genes) Panel
Portugal.
By CGC Genetics Holoprosencephaly (NGS panel for 9 genes) that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON FGF8 GLI2 GLI3 PTCH1
More info about this panel Portugal.
Holoprosencephaly, Autosomal Dominant, Nonsyndromic, Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Holoprosencephaly, Autosomal Dominant, Nonsyndromic, Sequencing Panel with CNV Detection that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
More info about this panel United States.
Holoprosencephaly-2 (Autosomal Dominant, Nonsyndromic) via SIX3 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the SIX3 gene.
More info about this panel United States.
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 Germany.
Eye Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2
More info about this panel Germany.
Microphthalmia-Anophthalmia-Coloboma Complex (MAC) Panel
Germany.
By MGZ Medical Genetics Center Microphthalmia-Anophthalmia-Coloboma Complex (MAC) that also includes the following genes: SALL2 BMP4 SHH SIX3 SIX6 FOXL2 SOX2 TFAP2A TGIF1 VAX1
More info about this panel Germany.
Holoprosencephaly (Autosomal Dominant, Nonsyndromic) Sequential Panel Panel
United States.
By FirmaLab Holoprosencephaly (Autosomal Dominant, Nonsyndromic) Sequential Panel that also includes the following genes: SHH SIX3 TGIF1 ZIC2 GLI1 PTCH1
More info about this panel United States.
Holoprosencephaly panel Panel
Germany.
By Centogene AG - the Rare Disease Company Holoprosencephaly panel that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON FGF8 GLI2 GLI3 PTCH1
More info about this panel Germany.
Holoprosencephaly 2 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SIX3 gene.
More info about this panel Germany.
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 Germany.
Holoprosencephaly Panel Panel
Germany.
By CeGaT GmbH Holoprosencephaly Panel that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON GLI2 PTCH1
More info about this panel Germany.
Holoprosencephaly Panel Panel
Germany.
By CeGaT GmbH Holoprosencephaly Panel that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON GLI2 PTCH1
More info about this panel Germany.
Single gene testing SIX3 Panel
Germany.
By CeGaT GmbH
This panel specifically test the SIX3 gene.
More info about this panel Germany.
Developmental Eye Disease panel Panel
United States.
By Molecular Vision Laboratory Developmental Eye Disease panel that also includes the following genes: BMP4 SHH SIX3 SIX6 SLC25A1 SNX3 SOX2 SOX3 ELP4 VAX1
More info about this panel United States.
SIX3-Related Holoprosencephaly Panel
Netherlands.
By Clinical Genomics Maastricht University Medical Centre
This panel specifically test the SIX3 gene.
More info about this panel Netherlands.
qChip Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1
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.
Invitae Holoprosencephaly Panel Panel
United States.
By Invitae Invitae Holoprosencephaly Panel that also includes the following genes: SHH SIX3 TGIF1 ZIC2 GLI2
More info about this panel United States.
Holoprosencephaly 2: SIX3 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SIX3 gene.
More info about this panel Spain.
HOLOPROSENCEPHALY Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases HOLOPROSENCEPHALY that also includes the following genes: SIX3 TGIF1 ZIC2 CDON DLL1 FGF8 FOXH1 GAS1 GLI2 NODAL
More info about this panel Spain.
Epilepsy and Seizure Disorders: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Epilepsy and Seizure Disorders: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
More info about this panel United States.
Neurology: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neurology: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL SIX3
More info about this panel United States.
Epilepsy and Seizure Disorders: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Epilepsy and Seizure Disorders: Deletion/Duplication Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
More info about this panel United States.
Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A
More info about this panel United States.
Holoproscencephaly NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Holoproscencephaly NGS Panel that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON GLI2 PTCH1
More info about this panel United States.
SIX3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SIX3 gene.
More info about this panel United States.
Comprehensive Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B
More info about this panel United States.
Holoprosencephaly Panel Panel
Finland.
By Blueprint Genetics Holoprosencephaly Panel that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON FGF8 FGFR1 FOXH1 GLI2 GLI3
More info about this panel Finland.
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel Panel
Finland.
By Blueprint Genetics Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel that also includes the following genes: BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2 TFAP2A ZIC2 PXDN
More info about this panel Finland.
Holoprosencephaly type 2 Panel
Spain.
By Bioarray
This panel specifically test the SIX3 gene.
More info about this panel Spain.
Rapid microarray (CGH and SNP) Panel
United States.
By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel United States.
High-Resolution Rapid Microarray (CGH and SNP) Panel
United States.
By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel United States.
ANOPHTHALMIA/ MICROPHTALMIA Panel
Spain.
By Laboratorio de Genetica Clinica SL ANOPHTHALMIA/ MICROPHTALMIA that also includes the following genes: SHH SIX3 SIX6 SOX2 RAX VSX2 HESX1 OTX2 PAX6
More info about this panel Spain.
FAMILIAL SCHIZENCEPHALY Panel
Spain.
By Laboratorio de Genetica Clinica SL FAMILIAL SCHIZENCEPHALY that also includes the following genes: SHH SIX3 COL4A1 EMX2
More info about this panel Spain.
HOLOPROSENCEPHALY Panel
Spain.
By Laboratorio de Genetica Clinica SL HOLOPROSENCEPHALY that also includes the following genes: SHH SIX3 TGIF1 ZIC2 FOXH1
More info about this panel Spain.
HOLOPROSENCEPHALY NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL HOLOPROSENCEPHALY NGS PANEL that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON DLL1 FGF8 FGFR1 FOXH1 GAS1
More info about this panel Spain.
Holoprosencephaly Type 2 , Sequencing SIX3 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SIX3 gene.
More info about this panel Spain.
Holoprosencephaly, Panel Massive Sequencing (NGS) 8 Genes Panel
Spain.
By Reference Laboratory Genetics Holoprosencephaly, Panel Massive Sequencing (NGS) 8 Genes that also includes the following genes: SIX3 TGIF1 ZIC2 CDON FGF8 GLI2 NODAL PTCH1
More info about this panel Spain.
Schizencephaly , Panel Massive Sequencing (NGS) 4 Genes Panel
Spain.
By Reference Laboratory Genetics Schizencephaly , Panel Massive Sequencing (NGS) 4 Genes that also includes the following genes: SHH SIX3 COL4A1 EMX2
More info about this panel Spain.
Holoprosencephaly: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Holoprosencephaly: gene sequencing panel that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
More info about this panel Canada.
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