FLNB gene related symptoms and diseases
All the information presented here about the FLNB 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 FLNB gene
Symptoms // Phenotype | % Cases |
---|---|
Severe short stature | Very Common - Between 80% and 100% cases |
Scoliosis | Very Common - Between 80% and 100% cases |
Micrognathia | Common - Between 50% and 80% cases |
Brachydactyly | Common - Between 50% and 80% cases |
Hypertelorism | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with FLNB gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Malar flattening
- Cleft palate
- Talipes equinovarus
- Cryptorchidism
- Depressed nasal bridge
Not very common - Between 30% and 50% cases
- Short neck
- Elbow dislocation
- Skeletal dysplasia
And 274 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to FLNB gene
Here you will find a list of rare diseases related to the FLNB. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BOOMERANG DYSPLASIA
Description
Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.
Most common symptoms of BOOMERANG DYSPLASIA
- Micrognathia
- Cryptorchidism
- Brachydactyly
- Wide nasal bridge
- Macrocephaly
More info about BOOMERANG DYSPLASIA
SPONDYLOCARPOTARSAL SYNOSTOSIS
Alternate names
SPONDYLOCARPOTARSAL SYNOSTOSIS Is also known as synspondylism, congenital, synspondylism, vertebral fusion with carpal coalition, scoliosis, congenital, with unilateral unsegmented bar, spondylocarpotarsal syndrome
Description
Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism.
Most common symptoms of SPONDYLOCARPOTARSAL SYNOSTOSIS
- Short stature
- Hearing impairment
- Scoliosis
- Hypertelorism
- Sensorineural hearing impairment
More info about SPONDYLOCARPOTARSAL SYNOSTOSIS
AUTOSOMAL DOMINANT LARSEN SYNDROME
Description
Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate.
Most common symptoms of AUTOSOMAL DOMINANT LARSEN SYNDROME
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Scoliosis
More info about AUTOSOMAL DOMINANT LARSEN SYNDROME
ATELOSTEOGENESIS TYPE I
Alternate names
ATELOSTEOGENESIS TYPE I Is also known as mecp2 duplication syndrome, aoi, giant cell chondrodysplasia, mental retardation, x-linked, with recurrent respiratory infections, spondylo-humero-femoral dysplasia, atelosteogenesis type 1, mental retardation, x-linked, syndromic, lubs type, ao1
Description
Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.
Most common symptoms of ATELOSTEOGENESIS TYPE I
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about ATELOSTEOGENESIS TYPE I
ATELOSTEOGENESIS, TYPE I; AO1
Alternate names
ATELOSTEOGENESIS, TYPE I; AO1 Is also known as giant cell chondrodysplasia, spondylohumerofemoral hypoplasia, aoi
Description
Atelosteogenesis is the name given by Maroteaux et al. (1982) to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. Rimoin et al. (1980) termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees (Jeon et al., 2014).
Most common symptoms of ATELOSTEOGENESIS, TYPE I; AO1
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about ATELOSTEOGENESIS, TYPE I; AO1
ATELOSTEOGENESIS TYPE III
Alternate names
ATELOSTEOGENESIS TYPE III Is also known as aoiii, ao3, atelosteogenesis type 3
Description
Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
Most common symptoms of ATELOSTEOGENESIS TYPE III
- Scoliosis
- Micrognathia
- Cleft palate
- Depressed nasal bridge
- Frontal bossing
More info about ATELOSTEOGENESIS TYPE III
Search interest in FLNB
Potential gene panels for FLNB gene
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication Panel
By ARUP Laboratories, Molecular Genetics and Genomics Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication that also includes the following genes: RUNX2 SLC26A2 SOX9 TRIP11 SERPINH1 TRPV4 FKBP10 WDR19 P3H1 EVC2
More info about this panelSkeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal Panel
By ARUP Laboratories, Molecular Genetics and Genomics Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal that also includes the following genes: RUNX2 SLC26A2 SOX9 TRIP11 SERPINH1 TRPV4 FKBP10 WDR19 P3H1 EVC2
More info about this panelFLNB. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the FLNB gene.
More info about this panelFLNB. Sequencing of the exons 2-5 and exons 27-33 Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the FLNB gene.
More info about this panelLarsen Syndrome (sequence analysis of FLNB gene) Panel
By CGC Genetics
This panel specifically test the FLNB gene.
More info about this panelSpondylocarpotarsal synostosis (sequence analysis of FLNB gene) Panel
By CGC Genetics
This panel specifically test the FLNB gene.
More info about this panelSkeletal dysplasia (NGS panel for 31 genes) Panel
By CGC Genetics Skeletal dysplasia (NGS panel for 31 genes) that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 P3H1 SBDS SLC35D1 COL10A1
More info about this panelLarsen syndrome (deletion/duplication analysis on FLNB gene) Panel
By CGC Genetics
This panel specifically test the FLNB gene.
More info about this panelEhlers-Danlos Syndromes Sequencing Panel with CNV Detection Panel
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 panelFLNB-Related Disorders via FLNB Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the FLNB 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 panelDesbuquois dysplasia and related disorders Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Desbuquois dysplasia and related disorders Deletion / Duplication panel that also includes the following genes: SLC26A2 XYLT1 GZF1 B3GALT6 CHST3 CANT1 CSGALNACT1 IMPAD1 FLNB KIF22
More info about this panelDesbuquois dysplasia and related disorders NGS panel Panel
By Connective Tissue Gene Tests Desbuquois dysplasia and related disorders NGS panel that also includes the following genes: SLC26A2 XYLT1 GZF1 B3GALT6 CHST3 CANT1 CSGALNACT1 IMPAD1 FLNB KIF22
More info about this panelDesbuquois dysplasia and related disorders Comprehensive panel Panel
By Connective Tissue Gene Tests Desbuquois dysplasia and related disorders Comprehensive panel that also includes the following genes: SLC26A2 XYLT1 GZF1 B3GALT6 CHST3 CANT1 CSGALNACT1 IMPAD1 FLNB KIF22
More info about this panelSkeletal dysplasia extended NGS panel Panel
By Connective Tissue Gene Tests Skeletal dysplasia extended NGS panel that also includes the following genes: RMRP NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1 COL11A2 DDR2 EBP
More info about this panelSpondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B
More info about this panelSkeletal dysplasia core & extended Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Skeletal dysplasia core & extended Deletion / Duplication panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1
More info about this panelSkeletal dysplasia extended Comprehensive panel Panel
By Connective Tissue Gene Tests Skeletal dysplasia extended Comprehensive panel that also includes the following genes: RMRP NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1 COL11A2 DDR2 EBP
More info about this panelSkeletal dysplasia core & extended Comprehensive panel Panel
By Connective Tissue Gene Tests Skeletal dysplasia core & extended Comprehensive panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1
More info about this panelSpondylo-Epi-Metaphyseal dysplasias Comprehensive panel Panel
By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B
More info about this panelSpondylo-Epi-Metaphyseal dysplasias NGS panel Panel
By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias NGS panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B
More info about this panelSkeletal dysplasia core & extended NGS panel Panel
By Connective Tissue Gene Tests Skeletal dysplasia core & extended NGS panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1
More info about this panelSkeletal dysplasia extended Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Skeletal dysplasia extended Deletion / Duplication panel that also includes the following genes: RMRP NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1 COL11A2 DDR2 EBP
More info about this panelAtelosteogenesis, type I / IIIComprehensive Test Panel
By Connective Tissue Gene Tests
This panel specifically test the FLNB gene.
More info about this panelSpondylocarpotarsal synostosis syndrome Deletion / Duplication Test Panel
By Connective Tissue Gene Tests
This panel specifically test the FLNB gene.
More info about this panelSpondylocarpotarsal synostosis syndrome Comprehensive Test Panel
By Connective Tissue Gene Tests
This panel specifically test the FLNB gene.
More info about this panelSpondylocarpotarsal synostosis syndrome NGS Test Panel
By Connective Tissue Gene Tests
This panel specifically test the FLNB gene.
More info about this panelAtelosteogenesis, type I / IIIDeletion / Duplication Test Panel
By Connective Tissue Gene Tests
This panel specifically test the FLNB gene.
More info about this panelLarsen syndrome, autosomal dominant Deletion / Duplication Test Panel
By Connective Tissue Gene Tests
This panel specifically test the FLNB gene.
More info about this panelLarsen syndrome, autosomal dominant Comprehensive Test Panel
By Connective Tissue Gene Tests
This panel specifically test the FLNB gene.
More info about this panelAtelosteogenesis, type I / IIINGS Test Panel
By Connective Tissue Gene Tests
This panel specifically test the FLNB gene.
More info about this panelLarsen syndrome, autosomal dominant NGS Test Panel
By Connective Tissue Gene Tests
This panel specifically test the FLNB gene.
More info about this panelSkeletal dysplasia and skeletal ciliopathy Comprehensive panel Panel
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy Comprehensive panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panelSkeletal dysplasia and skeletal ciliopathy NGS panel Panel
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy NGS panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panelSkeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panelMental Retardation and Dysmorphology - panels Panel
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 panelSyndromal Diseases - panels Panel
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 panelAtelosteogenesis type 1 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the FLNB gene.
More info about this panelAtelosteogenesis type 3 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the FLNB gene.
More info about this panelLarsen syndrome Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the FLNB gene.
More info about this panelSpondylocarpotarsal synostosis syndrome Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the FLNB gene.
More info about this panelPotentially lethal skeletal disorders Panel Panel
By CeGaT GmbH Potentially lethal skeletal disorders Panel that also includes the following genes: SLC26A2 SOX9 TRIP11 WNT7A NSDHL TRPV4 P3H1 CANT1 SLC35D1 COL11A1
More info about this panelAtelosteogenesis, type I Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the FLNB gene.
More info about this panelAtelosteogenesis, type III Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the FLNB gene.
More info about this panelBoomerang dysplasia Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the FLNB gene.
More info about this panelLarsen syndrome Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the FLNB gene.
More info about this panelSpondylocarpotarsal synostosis syndrome Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the FLNB gene.
More info about this panelFLNB Gene Sequencing Panel
By GENETIX Centro de Investigación en Genética Humana y Reproductiva
This panel specifically test the FLNB gene.
More info about this panelAtelosteogenesis, type I Panel
By MedGene
This panel specifically test the FLNB gene.
More info about this panelAtelosteogenesis, type III Panel
By MedGene
This panel specifically test the FLNB gene.
More info about this panelBoomerang dysplasia Panel
By MedGene
This panel specifically test the FLNB gene.
More info about this panelLarsen syndrome Panel
By MedGene
This panel specifically test the FLNB gene.
More info about this panelSpondylocarpotarsal synostosis syndrome Panel
By MedGene
This panel specifically test the FLNB gene.
More info about this panelAtelosteogenesis type 1: FLNB gene sequence analysis(exons 2-5) Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the FLNB gene.
More info about this panelAtelosteogenesis type 3: FLNB gene sequence analysis (exons 2-5, 13, 27-33) Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the FLNB gene.
More info about this panelLarsen syndrome: FLNB gene sequence analysis (exons 2-5, 27-33) Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the FLNB gene.
More info about this panelSkeletal dysplasias Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Skeletal dysplasias that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CCN6 NSDHL TRPV4 SBDS EVC2 SLC35D1
More info about this panelNGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) Panel
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 panelNGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FN1 Panel
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 panelNGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) Panel
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 panelNGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + COL3A1 Panel
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 panelNGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FLNA Panel
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 panelDisproportionate Short Stature: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Sequencing Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TBX6 TRIP11
More info about this panelSkeletal Dysplasia: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2
More info about this panelDisproportionate Short Stature: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Deletion/Duplication Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TRIP11 TRPS1
More info about this panelSkeletal Dysplasias NGS panel Panel
By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1
More info about this panelFLNB Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the FLNB gene.
More info about this panelKabuki Syndrome Panel Panel
By Blueprint Genetics Kabuki Syndrome Panel that also includes the following genes: SIX5 KDM6A CHD7 EYA1 FLNB IRF6 KMT2D
More info about this panelComprehensive Metabolism Panel Panel
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
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 panelSkeletal Dysplasias Core Panel Panel
By Blueprint Genetics Skeletal Dysplasias Core Panel that also includes the following genes: RMRP ROR2 RUNX2 BMP1 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TCIRG1
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 panelLarsen syndrome Panel
By Bioarray
This panel specifically test the FLNB gene.
More info about this panelLARSEN SYNDROME (AUTOSOMAL DOMINANT) Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the FLNB gene.
More info about this panelSPONDYLOCARPOTARSAL SYNOSTOSIS Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the FLNB gene.
More info about this panelSKELETAL DYSPLASIA NGS PANEL Panel
By Laboratorio de Genetica Clinica SL SKELETAL DYSPLASIA NGS PANEL that also includes the following genes: SLC26A2 SOX9 TRIP11 TRPV4 EVC2 SLC35D1 COL10A1 COL11A1 COL11A2 COL1A2
More info about this panelKABUKI/KABUKI-LIKE SYNDROME NGS PANEL Panel
By Laboratorio de Genetica Clinica SL KABUKI/KABUKI-LIKE SYNDROME NGS PANEL that also includes the following genes: SIX1 SIX5 KDM6A MACROD2 CHD7 KDM1A EYA1 FLNB HNRNPK IRF6
More info about this panelLarsen Syndrome , Sequencing FLNB Gene Panel
By Reference Laboratory Genetics
This panel specifically test the FLNB gene.
More info about this panelAutosomal Dominant Larsen Syndrome, Sequencing Exons ( 2-5, 27-33) FLNB Gene Panel
By Reference Laboratory Genetics
This panel specifically test the FLNB gene.
More info about this panelAtelosteogenesis Type 3, Sequencing Exons (2-5, 13, 27-33) FLNB Gene Panel
By Reference Laboratory Genetics
This panel specifically test the FLNB gene.
More info about this panelAtelosteogenesis Type 1, Sequencing Exons (2-5) FLNB Gene Panel
By Reference Laboratory Genetics
This panel specifically test the FLNB gene.
More info about this panelLarsen Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 5 Genes Panel
By Reference Laboratory Genetics Larsen Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: CHST3 CANT1 IMPAD1 FLNB B3GAT3
More info about this panelSkeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes Panel
By Reference Laboratory Genetics Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CCN6 NSDHL TRPV4 SBDS EVC2 SLC35D1
More info about this panelMultiple Synostosis Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 6 Genes Panel
By Reference Laboratory Genetics Multiple Synostosis Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: TTR FGF9 FLNB GDF5 HOXA11 NOG
More info about this panelFLNB-Related Disorders: gene sequencing Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the FLNB gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ALX3 SUFU SYNE2 SLC19A3 TMEM126A ZBTB16 CDK16