ZNF469 gene related symptoms and diseases
All the information presented here about the ZNF469 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ZNF469 gene
Symptoms // Phenotype | % Cases |
---|---|
Hearing impairment | Very Common - Between 80% and 100% cases |
Joint hypermobility | Very Common - Between 80% and 100% cases |
Megalocornea | Very Common - Between 80% and 100% cases |
Keratoconus | Very Common - Between 80% and 100% cases |
Hallux valgus | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ZNF469 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Increased susceptibility to fractures
- Hyperextensible skin
- Scoliosis
- Congenital hip dislocation
- Blue sclerae
- High myopia
- Mitral valve prolapse
- Keratoglobus
And 59 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ZNF469 gene
Here you will find a list of rare diseases related to the ZNF469. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BRITTLE CORNEA SYNDROME
Description
Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.
Most common symptoms of BRITTLE CORNEA SYNDROME
- Hearing impairment
- Scoliosis
- Sensorineural hearing impairment
- Cleft palate
- High palate
More info about BRITTLE CORNEA SYNDROME
BRITTLE CORNEA SYNDROME 1; BCS1
Alternate names
BRITTLE CORNEA SYNDROME 1; BCS1 Is also known as ehlers-danlos syndrome, type vib, formerly, dysgenesis mesodermalis corneae et sclerae, corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility, eds6b, formerly, fragilitas oculi with joint hyperextensibility
Description
Brittle cornea syndrome (BCS) is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints (Al-Hussain et al., 2004). It is classified as a form of Ehlers-Danlos syndrome (Malfait et al., 2017).
Most common symptoms of BRITTLE CORNEA SYNDROME 1; BCS1
- Hearing impairment
- Scoliosis
- Epicanthus
- Myopia
- Macrocephaly
More info about BRITTLE CORNEA SYNDROME 1; BCS1
SOURCES: OMIM
Search interest in ZNF469
Potential gene panels for ZNF469 gene
NGS Connective Tissue Disorders Panel Panel
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By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Connective Tissue Disorders Panel that also includes the following genes: SKI TGFB2 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 CBS ACVR1 ATP6V0A2
More info about this panel![](/img/flags/United-states.png)
Connective Tissue Disorders Panel Panel
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By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Connective Tissue Disorders Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 TNXB ACTA2 SLC2A10 CBS
More info about this panel![](/img/flags/United-states.png)
Familial Aneurysm and Aortopathy Panel
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By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Familial Aneurysm and Aortopathy that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 TNXB ACTA2 SLC2A10 CBS
More info about this panel![](/img/flags/United-states.png)
Connective Tissue Disorders Panel Panel
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By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Connective Tissue Disorders Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 TNXB C1R C1S
More info about this panel![](/img/flags/United-states.png)
Brittle cornea syndrome 1 (sequence analysis of ZNF469 gene) Panel
![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
By CGC Genetics
This panel specifically test the ZNF469 gene.
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection that also includes the following genes: SPARC TGFBR1 TGFBR2 TNFRSF1A TNXB C1R C1S LZTS1 ADAMTSL2 B3GALT6
More info about this panel![](/img/flags/United-states.png)
Corneal Dystrophies Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Corneal Dystrophies Sequencing Panel with CNV Detection that also includes the following genes: TACSTD2 TCF4 ZEB1 TGFBI VSX1 OVOL2 SLC4A11 COL8A2 CYP4V2 ZNF469
More info about this panel![](/img/flags/United-states.png)
Brittle Cornea Syndrome Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Brittle Cornea Syndrome Sequencing Panel with CNV Detection that also includes the following genes: ZNF469 PRDM5
More info about this panel![](/img/flags/United-states.png)
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
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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![](/img/flags/United-states.png)
Ehlers-Danlos syndrome Deletion / Duplication panel - Recessive Panel
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By Connective Tissue Gene Tests Ehlers-Danlos syndrome Deletion / Duplication panel - Recessive that also includes the following genes: B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL12A1 ZNF469 CHST14 ATP7A PLOD1
More info about this panel![](/img/flags/United-states.png)
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive Panel
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By Connective Tissue Gene Tests Ehlers-Danlos syndrome NGS panel - Dominant & Recessive that also includes the following genes: C1R C1S B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL3A1
More info about this panel![](/img/flags/United-states.png)
Ehlers-Danlos syndrome Comprehensive panel - Recessive Panel
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By Connective Tissue Gene Tests Ehlers-Danlos syndrome Comprehensive panel - Recessive that also includes the following genes: B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL12A1 ZNF469 CHST14 ATP7A PLOD1
More info about this panel![](/img/flags/United-states.png)
Ehlers-Danlos syndrome NGS panel - Recessive Panel
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By Connective Tissue Gene Tests Ehlers-Danlos syndrome NGS panel - Recessive that also includes the following genes: B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL12A1 ZNF469 CHST14 ATP7A PLOD1
More info about this panel![](/img/flags/United-states.png)
Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant & Recessive Panel
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By Connective Tissue Gene Tests Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant & Recessive that also includes the following genes: C1R C1S B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL3A1
More info about this panel![](/img/flags/United-states.png)
Ehlers-Danlos syndrome Comprehensive panel - Dominant & Recessive Panel
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By Connective Tissue Gene Tests Ehlers-Danlos syndrome Comprehensive panel - Dominant & Recessive that also includes the following genes: C1R C1S B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL3A1
More info about this panel![](/img/flags/United-states.png)
Brittle cornea syndrome NGS panel Panel
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By Connective Tissue Gene Tests Brittle cornea syndrome NGS panel that also includes the following genes: ZNF469 PRDM5
More info about this panel![](/img/flags/United-states.png)
Brittle cornea syndrome Comprehensive panel Panel
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By Connective Tissue Gene Tests Brittle cornea syndrome Comprehensive panel that also includes the following genes: ZNF469 PRDM5
More info about this panel![](/img/flags/United-states.png)
Brittle cornea syndrome Deletion/ Duplication panel Panel
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By Connective Tissue Gene Tests Brittle cornea syndrome Deletion/ Duplication panel that also includes the following genes: ZNF469 PRDM5
More info about this panel![](/img/flags/United-states.png)
Brittle cornea syndrome 1 Comprehensive test Panel
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By Connective Tissue Gene Tests
This panel specifically test the ZNF469 gene.
More info about this panel![](/img/flags/United-states.png)
Brittle cornea syndrome 1 Deletion / Duplication test Panel
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By Connective Tissue Gene Tests
This panel specifically test the ZNF469 gene.
More info about this panel![](/img/flags/United-states.png)
Brittle cornea syndrome 1 Sequencing test Panel
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By Connective Tissue Gene Tests
This panel specifically test the ZNF469 gene.
More info about this panel![](/img/flags/United-states.png)
Keratoconus and related disorders Comprehensive test Panel
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By Connective Tissue Gene Tests Keratoconus and related disorders Comprehensive test that also includes the following genes: VSX1 ZNF469 MIR184 PRDM5
More info about this panel![](/img/flags/United-states.png)
Keratoconus and related disorders Deletion / Duplication test Panel
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By Connective Tissue Gene Tests Keratoconus and related disorders Deletion / Duplication test that also includes the following genes: VSX1 ZNF469 MIR184 PRDM5
More info about this panel![](/img/flags/United-states.png)
Keratoconus and related disorders NGS test Panel
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By Connective Tissue Gene Tests Keratoconus and related disorders NGS test that also includes the following genes: VSX1 ZNF469 MIR184 PRDM5
More info about this panel![](/img/flags/United-states.png)
Connective tissue disorder Deletion / Duplication panel Panel
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By Connective Tissue Gene Tests Connective tissue disorder Deletion / Duplication panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2
More info about this panel![](/img/flags/United-states.png)
Connective tissue disorder Comprehensive panel Panel
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By Connective Tissue Gene Tests Connective tissue disorder Comprehensive panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2
More info about this panel![](/img/flags/United-states.png)
Connective tissue disorder NGS panel Panel
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By Connective Tissue Gene Tests Connective tissue disorder NGS panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2
More info about this panel![](/img/flags/United-states.png)
Ehlers-Danlos Syndrome (EDS) Panel
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By MGZ Medical Genetics Center Ehlers-Danlos Syndrome (EDS) that also includes the following genes: TNXB FKBP14 SLC39A13 ADAMTS2 COL1A2 COL3A1 COL5A1 COL5A2 ZNF469 CHST14
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Eye Diseases - panels Panel
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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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Vascular and connective tissue diseases - panels Panel
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By MGZ Medical Genetics Center Vascular and connective tissue diseases - panels that also includes the following genes: AIMP1 BMPR1B BMPR2 SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB TREX1
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Brittle cornea syndrome Panel
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By Centogene AG - the Rare Disease Company
This panel specifically test the ZNF469 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm Panel
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By CeGaT GmbH Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 B3GALT6 ATP6V0A2
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By CeGaT GmbH Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 B3GALT6 ATP6V0A2
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Corneal Dystrophy Panel
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By Asper Biogene Asper Biogene LLC Corneal Dystrophy that also includes the following genes: SOD1 TACSTD2 TCF4 ZEB1 TGFBI VSX1 SLC4A11 COL17A1 COL8A2 CYP4V2
More info about this panel![](/img/flags/Estonia.png.pagespeed.ce.3UWOPDUuUk.png)
Eye diseases comprehensive panel Panel
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By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel![](/img/flags/Estonia.png.pagespeed.ce.3UWOPDUuUk.png)
Ehlers-Danlos Syndrome Panel
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By Asper Biogene Asper Biogene LLC Ehlers-Danlos Syndrome that also includes the following genes: TGFB2 TGFBR1 TGFBR2 TNXB C1R C1S B3GALT6 ATP6V0A2 FKBP14 RIN2
More info about this panel![](/img/flags/Estonia.png.pagespeed.ce.3UWOPDUuUk.png)
Brittle Cornea gene panel Panel
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By Connective Tissue Laboratory Ghent University Hospital Brittle Cornea gene panel that also includes the following genes: ZNF469 PRDM5
More info about this panel![](/img/flags/Belgium.png.pagespeed.ce.T9_KUy1C9-.png)
ZNF469 mutational analysis Panel
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By Connective Tissue Laboratory Ghent University Hospital
This panel specifically test the ZNF469 gene.
More info about this panel![](/img/flags/Belgium.png.pagespeed.ce.T9_KUy1C9-.png)
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) Panel
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By Genome Diagnostics VU University Medical Center NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) that also includes the following genes: TNXB B3GALT6 FKBP14 CHST3 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL5A1
More info about this panel![](/img/flags/Netherlands.png.pagespeed.ce.VVW97w9GfU.png)
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FN1 Panel
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By Genome Diagnostics VU University Medical Center NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FN1 that also includes the following genes: TNXB B3GALT6 FKBP14 CHST3 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL5A1
More info about this panel![](/img/flags/Netherlands.png.pagespeed.ce.VVW97w9GfU.png)
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) Panel
![](/img/flags/Netherlands.png.pagespeed.ce.VVW97w9GfU.png)
By Genome Diagnostics VU University Medical Center NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) that also includes the following genes: TNXB B3GALT6 FKBP14 CHST3 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL5A1
More info about this panel![](/img/flags/Netherlands.png.pagespeed.ce.VVW97w9GfU.png)
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + COL3A1 Panel
![](/img/flags/Netherlands.png.pagespeed.ce.VVW97w9GfU.png)
By Genome Diagnostics VU University Medical Center NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + COL3A1 that also includes the following genes: TNXB B3GALT6 FKBP14 CHST3 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL3A1
More info about this panel![](/img/flags/Netherlands.png.pagespeed.ce.VVW97w9GfU.png)
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FLNA Panel
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By Genome Diagnostics VU University Medical Center NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FLNA that also includes the following genes: TNXB B3GALT6 FKBP14 CHST3 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL5A1
More info about this panel![](/img/flags/Netherlands.png.pagespeed.ce.VVW97w9GfU.png)
Connective Tissue Disorders: Sequencing Panel Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Connective Tissue Disorders: Sequencing Panel that also includes the following genes: TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS ACVR1 ATP6V0A2 FKBP14 SLC39A13 ADAMTS2
More info about this panel![](/img/flags/United-states.png)
Connective Tissue Disorders: Deletion/Duplication Panel Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Connective Tissue Disorders: Deletion/Duplication Panel that also includes the following genes: TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS ACVR1 ATP6V0A2 FKBP14 SLC39A13 ADAMTS2
More info about this panel![](/img/flags/United-states.png)
Connective Tissue NGS Panel Panel
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By Fulgent Genetics Fulgent Genetics Connective Tissue NGS Panel that also includes the following genes: TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS ACVR1 ATP6V0A2 FKBP14 SLC39A13 ADAMTS2
More info about this panel![](/img/flags/United-states.png)
ZNF469 Panel
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By Fulgent Genetics Fulgent Genetics
This panel specifically test the ZNF469 gene.
More info about this panel![](/img/flags/United-states.png)
Corneal Dystrophy Panel Panel
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By Blueprint Genetics Corneal Dystrophy Panel that also includes the following genes: TACSTD2 TCF4 ZEB1 TGFBI OVOL2 SLC4A11 COL17A1 COL5A1 COL8A2 CYP4V2
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Aorta Panel Panel
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By Blueprint Genetics Aorta Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 ADAMTS10 SLC2A10 CBS
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Ehlers-Danlos Syndrome Panel Panel
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By Blueprint Genetics Ehlers-Danlos Syndrome Panel that also includes the following genes: BGN TGFB2 TGFBR1 TGFBR2 CBS ATP6V0A2 FKBP14 SLC39A13 DSE ADAMTS2
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
BRITTLE CORNEA SYNDROME Panel
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By Laboratorio de Genetica Clinica SL BRITTLE CORNEA SYNDROME that also includes the following genes: ZNF469 PRDM5
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Corneal Dystrophy , Panel Massive Sequencing (NGS) 18 Genes Panel
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By Reference Laboratory Genetics Corneal Dystrophy , Panel Massive Sequencing (NGS) 18 Genes that also includes the following genes: TACSTD2 TCF4 ZEB1 TGFBI VSX1 SLC4A11 COL5A1 COL8A2 CYP4V2 ZNF469
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Conective Tissue Related Disorders , Panel Massive Sequencing (NGS) 39 Genes Panel
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By Reference Laboratory Genetics Conective Tissue Related Disorders , Panel Massive Sequencing (NGS) 39 Genes that also includes the following genes: TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 ADAMTS10 SLC2A10 CBS ACVR1
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Brittle Cornea Syndrome , Panel Massive Sequencing (NGS) ZNF469, PRDM5 Genes Panel
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By Reference Laboratory Genetics Brittle Cornea Syndrome , Panel Massive Sequencing (NGS) ZNF469, PRDM5 Genes that also includes the following genes: ZNF469 PRDM5
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
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