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.

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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

SOURCES: MESH ORPHANET OMIM

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

SOURCES: OMIM MESH ORPHANET

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

SOURCES: OMIM ORPHANET MESH

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

SOURCES: OMIM ORPHANET

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). Genetic Heterogeneity of AtelosteogenesisAtelosteogenesis type II (AO2 ) is caused by mutation in the SLC26A2 gene (OMIM ) on chromosome 5q32. AO3 (OMIM ) is also caused by mutation in the FLNB gene (OMIM ).

Most common symptoms of ATELOSTEOGENESIS, TYPE I; AO1

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


More info about ATELOSTEOGENESIS, TYPE I; AO1

SOURCES: MESH OMIM

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

SOURCES: ORPHANET MESH OMIM


Potential gene panels for FLNB gene

Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication Panel

United States.

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 panel

Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal Panel

United States.

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 panel

FLNB. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the FLNB gene.

More info about this panel

FLNB. Sequencing of the exons 2-5 and exons 27-33 Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the FLNB gene.

More info about this panel

Larsen Syndrome (sequence analysis of FLNB gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the FLNB gene.

More info about this panel

Spondylocarpotarsal synostosis (sequence analysis of FLNB gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the FLNB gene.

More info about this panel

Skeletal dysplasia (NGS panel for 31 genes) Panel

Portugal.

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 panel

Larsen syndrome (deletion/duplication analysis on FLNB gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the FLNB gene.

More info about this panel

Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection Panel

United States.

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

FLNB-Related Disorders via FLNB Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the FLNB gene.

More info about this panel

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

Desbuquois dysplasia and related disorders Deletion / Duplication panel Panel

United States.

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 panel

Desbuquois dysplasia and related disorders NGS panel Panel

United States.

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 panel

Desbuquois dysplasia and related disorders Comprehensive panel Panel

United States.

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 panel

Skeletal dysplasia extended NGS panel Panel

United States.

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 panel

Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel Panel

United States.

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 panel

Skeletal dysplasia core & extended Deletion / Duplication panel Panel

United States.

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 panel

Skeletal dysplasia extended Comprehensive panel Panel

United States.

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 panel

Skeletal dysplasia core & extended Comprehensive panel Panel

United States.

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 panel

Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel Panel

United States.

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 panel

Spondylo-Epi-Metaphyseal dysplasias NGS panel Panel

United States.

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 panel

Skeletal dysplasia core & extended NGS panel Panel

United States.

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 panel

Skeletal dysplasia extended Deletion / Duplication panel Panel

United States.

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 panel

Atelosteogenesis, type I / IIIComprehensive Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the FLNB gene.

More info about this panel

Spondylocarpotarsal synostosis syndrome Deletion / Duplication Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the FLNB gene.

More info about this panel

Spondylocarpotarsal synostosis syndrome Comprehensive Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the FLNB gene.

More info about this panel

Spondylocarpotarsal synostosis syndrome NGS Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the FLNB gene.

More info about this panel

Atelosteogenesis, type I / IIIDeletion / Duplication Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the FLNB gene.

More info about this panel

Larsen syndrome, autosomal dominant Deletion / Duplication Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the FLNB gene.

More info about this panel

Larsen syndrome, autosomal dominant Comprehensive Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the FLNB gene.

More info about this panel

Atelosteogenesis, type I / IIINGS Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the FLNB gene.

More info about this panel

Larsen syndrome, autosomal dominant NGS Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the FLNB gene.

More info about this panel

Skeletal dysplasia and skeletal ciliopathy Comprehensive panel Panel

United States.

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 panel

Skeletal dysplasia and skeletal ciliopathy NGS panel Panel

United States.

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 panel

Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel Panel

United States.

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 panel

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

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

Atelosteogenesis type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FLNB gene.

More info about this panel

Atelosteogenesis type 3 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FLNB gene.

More info about this panel

Larsen syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FLNB gene.

More info about this panel

Spondylocarpotarsal synostosis syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FLNB gene.

More info about this panel

Potentially lethal skeletal disorders Panel Panel

Germany.

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 panel

Atelosteogenesis, type I Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the FLNB gene.

More info about this panel

Atelosteogenesis, type III Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the FLNB gene.

More info about this panel

Boomerang dysplasia Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the FLNB gene.

More info about this panel

Larsen syndrome Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the FLNB gene.

More info about this panel

Spondylocarpotarsal synostosis syndrome Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the FLNB gene.

More info about this panel

FLNB Gene Sequencing Panel

Colombia.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva

This panel specifically test the FLNB gene.

More info about this panel

Atelosteogenesis, type I Panel

Slovakia.

By MedGene

This panel specifically test the FLNB gene.

More info about this panel

Atelosteogenesis, type III Panel

Slovakia.

By MedGene

This panel specifically test the FLNB gene.

More info about this panel

Boomerang dysplasia Panel

Slovakia.

By MedGene

This panel specifically test the FLNB gene.

More info about this panel

Larsen syndrome Panel

Slovakia.

By MedGene

This panel specifically test the FLNB gene.

More info about this panel

Spondylocarpotarsal synostosis syndrome Panel

Slovakia.

By MedGene

This panel specifically test the FLNB gene.

More info about this panel

Atelosteogenesis type 1: FLNB gene sequence analysis(exons 2-5) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the FLNB gene.

More info about this panel

Atelosteogenesis type 3: FLNB gene sequence analysis (exons 2-5, 13, 27-33) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the FLNB gene.

More info about this panel

Larsen syndrome: FLNB gene sequence analysis (exons 2-5, 27-33) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the FLNB gene.

More info about this panel

Skeletal dysplasias Panel

Spain.

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 panel

NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) Panel

Netherlands.

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

NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FN1 Panel

Netherlands.

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

NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) Panel

Netherlands.

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

NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + COL3A1 Panel

Netherlands.

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

NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FLNA Panel

Netherlands.

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

Disproportionate Short Stature: Sequencing Panel Panel

United States.

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 panel

Skeletal Dysplasia: Sequencing Panel Panel

United States.

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 panel

Disproportionate Short Stature: Deletion/Duplication Panel Panel

United States.

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 panel

Skeletal Dysplasias NGS panel Panel

United States.

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 panel

FLNB Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FLNB gene.

More info about this panel

Kabuki Syndrome Panel Panel

Finland.

By Blueprint Genetics Kabuki Syndrome Panel that also includes the following genes: SIX5 KDM6A CHD7 EYA1 FLNB IRF6 KMT2D

More info about this panel

Comprehensive Metabolism Panel Panel

Finland.

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 panel

Craniosynostosis Panel Panel

Finland.

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 panel

Skeletal Dysplasias Core Panel Panel

Finland.

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 panel

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

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

Larsen syndrome Panel

Spain.

By Bioarray

This panel specifically test the FLNB gene.

More info about this panel

LARSEN SYNDROME (AUTOSOMAL DOMINANT) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the FLNB gene.

More info about this panel

SPONDYLOCARPOTARSAL SYNOSTOSIS Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the FLNB gene.

More info about this panel

SKELETAL DYSPLASIA NGS PANEL Panel

Spain.

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 panel

KABUKI/KABUKI-LIKE SYNDROME NGS PANEL Panel

Spain.

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 panel

Larsen Syndrome , Sequencing FLNB Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the FLNB gene.

More info about this panel

Autosomal Dominant Larsen Syndrome, Sequencing Exons ( 2-5, 27-33) FLNB Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the FLNB gene.

More info about this panel

Atelosteogenesis Type 3, Sequencing Exons (2-5, 13, 27-33) FLNB Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the FLNB gene.

More info about this panel

Atelosteogenesis Type 1, Sequencing Exons (2-5) FLNB Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the FLNB gene.

More info about this panel

Larsen Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 5 Genes Panel

Spain.

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 panel

Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes Panel

Spain.

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 panel

Multiple Synostosis Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 6 Genes Panel

Spain.

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 panel

FLNB-Related Disorders: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the FLNB gene.

More info about this panel


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