TUBB3 gene related symptoms and diseases

All the information presented here about the TUBB3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to TUBB3 gene

Symptoms // Phenotype % Cases
Ophthalmoplegia Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Congenital fibrosis of extraocular muscles Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Agenesis of corpus callosum Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with TUBB3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • External ophthalmoplegia
  • Sensory exotropia
  • Compensatory chin elevation
  • Esotropia
  • Restrictive external ophthalmoplegia
  • Superior rectus atrophy
  • Levator palpebrae superioris atrophy
  • Ptosis

And 51 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to TUBB3 gene

Here you will find a list of rare diseases related to the TUBB3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CORTICAL DYSGENESIS WITH PONTOCEREBELLAR HYPOPLASIA DUE TO TUBB3 MUTATION


Description

Complex cortical dysplasia with other brain malformations (CDCBM) is a disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals have mild to severe mental retardation, strabismus, axial hypotonia, and spasticity. Brain imaging shows variable malformations of cortical development, including polymicrogyria, gyral disorganization, and fusion of the basal ganglia, as well as thin corpus callosum, hypoplastic brainstem, and dysplastic cerebellar vermis. Extraocular muscles are not involved (summary by Poirier et al., 2010).Mutation in the TUBB3 gene can also cause congenital fibrosis of extraocular muscles-3A (CFEOM3A ), a milder and somewhat different neurologic phenotype. Genetic Heterogeneity of Complex Cortical Dysplasia With Other Brain MalformationsSee also CDCBM2 (OMIM ), caused by mutation in the KIF5C gene (OMIM ) on chromosome 2q23; CDCBM3 (OMIM ), caused by mutation in the KIF2A gene (OMIM ) on chromosome 5q12; CDCBM4 (OMIM ), caused by mutation in the TUBG1 gene (OMIM ) on chromosome 17q21; CDCBM5 (OMIM ), caused by mutation in the TUBB2A gene (OMIM ) on chromosome 6p25; CDCBM6 (OMIM ), caused by mutation in the TUBB gene (OMIM ) on chromosome 6p21; CDCBM7 (OMIM ), caused by mutation in the TUBB2B gene (OMIM ) on chromosome 6p25; and CDCBM8 (OMIM ), caused by mutation in the TUBA8 gene (OMIM ) on chromosome 22q11.See also lissencephaly (e.g., LIS1, {607432}), which shows overlapping features and may result from mutation in tubulin genes.

Most common symptoms of CORTICAL DYSGENESIS WITH PONTOCEREBELLAR HYPOPLASIA DUE TO TUBB3 MUTATION

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


More info about CORTICAL DYSGENESIS WITH PONTOCEREBELLAR HYPOPLASIA DUE TO TUBB3 MUTATION

SOURCES: OMIM ORPHANET

CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES


Alternate names

CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES Is also known as feom, feom1 locus, ophthalmoplegia, congenital, blepharoptosis with absent eye movements

Description

Congenital fibrosis of the extraocular muscles (CFEOM) encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. Classic CFEOM is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline. Involvement of the horizontal extraocular muscles is variable. If all affected members of a family have the classic phenotype with bilateral involvement, the disorder is referred to as 'CFEOM1' (Engle et al., 1997; Heidary et al., 2008).CFEOM2 (OMIM ), an autosomal recessive disorder caused by mutation in the ARIX gene (OMIM ) on chromosome 11q13, is characterized by bilateral ptosis with eyes fixed in an exotropic position.The CFEOM3 phenotype shows more variable clinical features: affected individuals may have unilateral eye involvement, may be able raise their eyes above midline, or may not have blepharoptosis. CFEOM3 is diagnosed in a family if even 1 member does not have classic findings of the disorder. CFEOM3 is a genetically heterogeneous disorder; CFEOM3A with or without extraocular involvement (OMIM ) is caused by mutation in the TUBB3 gene (OMIM ) on chromosome 16q24; CFEOM3B is caused by mutation in the KIF21A gene (OMIM ) on chromosome 12q12; and CFEOM3C (OMIM ) maps to chromosome 13q.CFEOM4 (OMIM ), also known as Tukel syndrome, maps to chromosome 21q.CFEOM5 (OMIM ) is caused by mutation in the COL25A1 gene (OMIM ) on chromosome 4q25.See also NOMENCLATURE below.

Most common symptoms of CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES

  • Intellectual disability
  • Ataxia
  • Strabismus
  • Ptosis
  • Optic atrophy


More info about CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES

SOURCES: OMIM ORPHANET

FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT; CFEOM3A


Alternate names

FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT; CFEOM3A Is also known as feom3 locus

Description

Congenital fibrosis of the extraocular muscles (CFEOM) encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. If all affected members of a family have classic CFEOM with bilateral involvement and inability to raise the eyes above midline, the phenotype is classified as CFEOM1 (OMIM ). CFEOM2 (OMIM ) shows autosomal recessive inheritance. CFEOM3 is characterized by autosomal dominant inheritance of a more variable phenotype than classic CFEOM1. Individuals with CFEOM3 may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis (reviews by Yamada et al., 2004 and Heidary et al., 2008).Yamada et al. (2003) concluded that CFEOM3 is a relatively rare form of CFEOM. Genetic Heterogeneity of CFEOM3The CFEOM3 phenotype is genetically heterogeneous; see also CFEOM3B (OMIM ), caused by mutation in the KIF21A gene on chromosome 12q12, and CFEOM3C (OMIM ), which maps to chromosome 13q.

Most common symptoms of FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT; CFEOM3A

  • Global developmental delay
  • Strabismus
  • Ptosis
  • Flexion contracture
  • Peripheral neuropathy


More info about FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT; CFEOM3A

SOURCES: OMIM MESH

TUBULINOPATHY-ASSOCIATED DYSGYRIA


Alternate names

TUBULINOPATHY-ASSOCIATED DYSGYRIA Is also known as brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome


More info about TUBULINOPATHY-ASSOCIATED DYSGYRIA

SOURCES: ORPHANET


Potential gene panels for TUBB3 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

Hereditary Spastic Paraplegia Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Hereditary Spastic Paraplegia Panel that also includes the following genes: RTN2 SACS SLC16A2 SLC2A1 KDM5C SPG11 ATL1 SPAST SPG7 TFG

More info about this panel

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

Microcephaly Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Microcephaly that also includes the following genes: STIL SLC9A6 CDKL5 TCF4 UBE3A RAB18 SLC25A19 ZEB2 CASK PCNT

More info about this panel

Polymicrogyria Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Polymicrogyria Deletion/Duplication Panel that also includes the following genes: TUBA8 RAB18 CCND2 TBC1D20 RAB3GAP1 RAB3GAP2 NDE1 RTTN TUBA1A TUBB3

More info about this panel

Cerebral Cortical Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Cerebral Cortical Deletion/Duplication Panel that also includes the following genes: TUBA8 VLDLR ACTB RAB18 ACTG1 RAB3GAP1 RAB3GAP2 FKRP ARX RTTN

More info about this panel

Cerebral Cortical Malformation Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Cerebral Cortical Malformation Sequencing Panel that also includes the following genes: SNAP29 TUBA8 TUBB2A TUBG1 VLDLR ACTB RAB18 ACTG1 B3GNT2 B4GAT1

More info about this panel

TUBB3 sequencing Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the TUBB3 gene.

More info about this panel

TUBB3 sequencing Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the TUBB3 gene.

More info about this panel

Lissencephaly Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Lissencephaly Sequencing Panel that also includes the following genes: SNAP29 TUBG1 VLDLR ACTB RXYLT1 ACTG1 B4GAT1 NDE1 CDK5 FKRP

More info about this panel

Polymicrogyria Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Polymicrogyria Sequencing Panel that also includes the following genes: TUBA8 RAB18 CCND2 TBC1D20 RAB3GAP1 RAB3GAP2 NDE1 RTTN TUBA1A TUBB3

More info about this panel

Cerebellar/Pontocerebellar Hypoplasia Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Cerebellar/Pontocerebellar Hypoplasia Sequencing Panel that also includes the following genes: TUBA8 VLDLR VRK1 CASK TSEN34 CDK5 EXOSC3 TUBA1A TUBB3 RARS2

More info about this panel

Comprehensive Lissencephaly Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Comprehensive Lissencephaly Panel that also includes the following genes: SNAP29 TUBG1 VLDLR ACTB RXYLT1 ACTG1 B4GAT1 CDK5 FKRP ARX

More info about this panel

Cerebellar/Pontocerebellar Hypoplasia Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Cerebellar/Pontocerebellar Hypoplasia Deletion/Duplication Panel that also includes the following genes: TUBA8 VLDLR VRK1 CASK TSEN34 CDK5 EXOSC3 TUBA1A TUBB3 RARS2

More info about this panel

Cerebral Cortical Malformations Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Cerebral Cortical Malformations Deletion/Duplication Panel that also includes the following genes: SNAP29 TUBA8 TUBB2A TUBG1 VLDLR ACTB RAB18 ACTG1 B3GNT2 B4GAT1

More info about this panel

TUBB3 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the TUBB3 gene.

More info about this panel

Comprehensive Brain Malformations Panel Panel

United States.

By GeneDx Comprehensive Brain Malformations Panel that also includes the following genes: CEP41 TUBA8 VLDLR VRK1 TMEM237 CASK TSEN34 ARFGEF2 NDE1 FKRP

More info about this panel

Cortical Brain Malformations Panel Panel

United States.

By GeneDx Cortical Brain Malformations Panel that also includes the following genes: TUBA8 VLDLR ARFGEF2 NDE1 FKRP ARX POMGNT1 POMT2 TUBA1A TUBB3

More info about this panel

Congenital fibrosis of extraocular muscles (sequence analysis of TUBB3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the TUBB3 gene.

More info about this panel

TUBB3-Related Congenital Fibrosis of the Extraocular Muscles Panel

United Kingdom.

By Exeter Molecular Genetics Laboratory

This panel specifically test the TUBB3 gene.

More info about this panel

Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection that also includes the following genes: RORB SCN10A SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC17A5

More info about this panel

Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) Type 3A via TUBB3 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the TUBB3 gene.

More info about this panel

Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) or Strabismus Syndromes Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) or Strabismus Syndromes Sequencing Panel with CNV Detection that also includes the following genes: ROBO3 SALL4 KIF21A CHN1 TUBB3 TUBB2B ECEL1 HOXA1 HOXB1 PHOX2A

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Lissencephaly and related disorders NGS test Panel

United States.

By Connective Tissue Gene Tests Lissencephaly and related disorders NGS test that also includes the following genes: SNAP29 TUBA8 TUBB2A TUBG1 VLDLR ACTB RXYLT1 ACTG1 B4GAT1 NDE1

More info about this panel

Lissencephaly and related disorders Deletion / Duplication test Panel

United States.

By Connective Tissue Gene Tests Lissencephaly and related disorders Deletion / Duplication test that also includes the following genes: SNAP29 TUBA8 TUBB2A TUBG1 VLDLR ACTB RXYLT1 ACTG1 B4GAT1 NDE1

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Lissencephaly and related disorders Comprehensive test Panel

United States.

By Connective Tissue Gene Tests Lissencephaly and related disorders Comprehensive test that also includes the following genes: SNAP29 TUBA8 TUBB2A TUBG1 VLDLR ACTB RXYLT1 ACTG1 B4GAT1 NDE1

More info about this panel

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

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

Brain Malformations / Neuronal Migration Disorders Panel

Germany.

By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2

More info about this panel

Muscle Disease with Ptosis / External Ophthalmoplegia Panel

Germany.

By MGZ Medical Genetics Center Muscle Disease with Ptosis / External Ophthalmoplegia that also includes the following genes: RYR1 SLC25A4 TWNK RRM2B CHAT KIF21A CHRNA1 CHRNB1 CHRND CHRNE

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Polymicrogyria Panel

Germany.

By MGZ Medical Genetics Center Polymicrogyria that also includes the following genes: TUBA8 NSDHL NDE1 CHD7 TUBA1A TUBB3 TUBB KIF1BP WDR62 GPSM2

More info about this panel

Muscle Weakness (Myopathy, Muscular Dystrophy) Panel

Germany.

By MGZ Medical Genetics Center Muscle Weakness (Myopathy, Muscular Dystrophy) that also includes the following genes: RYR1 BIN1 SCN4A SCO2 SDHA SGCA SGCB SGCD SGCG SLC22A5

More info about this panel

Cortical dysplasia, complex, with other brain malformations Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the TUBB3 gene.

More info about this panel

Fibrosis of extraocular muscles, congenital type 3a Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the TUBB3 gene.

More info about this panel

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

Neuronal Migration Disorders Panel Panel

Germany.

By CeGaT GmbH Neuronal Migration Disorders Panel that also includes the following genes: SNAP29 MED12 TUBA8 TUBG1 VLDLR ACTB RXYLT1 DCHS1 RAB18 ACTG1

More info about this panel

Neuronal Migration Disorders Panel Panel

Germany.

By CeGaT GmbH Neuronal Migration Disorders Panel that also includes the following genes: SNAP29 MED12 TUBA8 TUBG1 VLDLR ACTB RXYLT1 DCHS1 RAB18 ACTG1

More info about this panel

Single gene testing TUBB3 Panel

Germany.

By CeGaT GmbH

This panel specifically test the TUBB3 gene.

More info about this panel

Epilepsy Panel

Estonia.

By Asper Biogene Asper Biogene LLC Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 ST3GAL5 SLC35A2 SLC35A3 SLC6A1 SLC6A8

More info about this panel

Brain malformations Panel

Estonia.

By Asper Biogene Asper Biogene LLC Brain malformations that also includes the following genes: STIL SLC12A6 SNAP29 TCF4 CEP41 TUBB2A TUBG1 VLDLR VRK1 ACTB

More info about this panel

Brain Malformations: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Brain Malformations: Sequencing Panel that also includes the following genes: CEP41 TUBA8 VLDLR VRK1 ACTB ACTG1 TMEM237 CASK TSEN34 ARFGEF2

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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

Brain Malformations: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Brain Malformations: Deletion/Duplication Panel that also includes the following genes: CEP41 TUBA8 VLDLR VRK1 ACTB ACTG1 TMEM237 CASK TSEN34 ARFGEF2

More info about this panel

Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

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Polymicrogyria NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Polymicrogyria NGS Panel that also includes the following genes: TUBA8 TUBA1A TUBB3 KIF1BP SRPX2 TUBB2B ADGRG1

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TUBB3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TUBB3 gene.

More info about this panel

Neuro-Ophthalmology Panel Panel

Finland.

By Blueprint Genetics Neuro-Ophthalmology Panel that also includes the following genes: SLC25A4 SOX2 SPG7 TWNK ACO2 TIMM8A TK2 WFS1 ROBO3 SALL4

More info about this panel

Polymicrogyria Panel Panel

Finland.

By Blueprint Genetics Polymicrogyria Panel that also includes the following genes: TUBA8 TUBB2A NSDHL RAB18 NDE1 TUBA1A TUBB3 KIF1BP WDR62 GPSM2

More info about this panel

Neuronal Migration Disorder Panel Panel

Finland.

By Blueprint Genetics Neuronal Migration Disorder Panel that also includes the following genes: MED12 TUBA8 TUBB2A TUBG1 VLDLR YWHAE ACTB NSDHL RXYLT1 RAB18

More info about this panel

FIBROSIS OF EXTRAOCULAR MUSCLES, TYPE 3 (CFEOM3) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the TUBB3 gene.

More info about this panel

FIBROSIS OF EXTRAOCULAR MUSCLES PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL FIBROSIS OF EXTRAOCULAR MUSCLES PANEL that also includes the following genes: KIF21A TUBB3 PHOX2A

More info about this panel

Congenital Extraocular Muscles Fibrosis Type 3A , Sequencing TUBB3 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the TUBB3 gene.

More info about this panel

Cortical Dysplasia, Complex, with other Brain Malformations Type 1 , Sequencing TUBB3 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the TUBB3 gene.

More info about this panel

Polymicrogyria , Panel Massive Sequencing (NGS) 10 Genes Panel

Spain.

By Reference Laboratory Genetics Polymicrogyria , Panel Massive Sequencing (NGS) 10 Genes that also includes the following genes: TUBA8 FIG4 TUBA1A TUBB3 SRPX2 TUBB2B AKT3 ADGRG1 OCLN PIK3R2

More info about this panel

Congenital Extraocular Muscles Fibrosis , Panel Massive Sequencing (NGS) 4 Genes Panel

Spain.

By Reference Laboratory Genetics Congenital Extraocular Muscles Fibrosis , Panel Massive Sequencing (NGS) 4 Genes that also includes the following genes: COL25A1 KIF21A TUBB3 PHOX2A

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Malformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes Panel

Spain.

By Reference Laboratory Genetics Malformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes that also includes the following genes: TUBA8 VLDLR ACTB ACTG1 CASK ARFGEF2 NDE1 FKRP ARX ASPM

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Tubulinopathies: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Tubulinopathies: gene sequencing panel that also includes the following genes: TUBA8 TUBB2A TUBG1 TUBA1A TUBB3 TUBB TUBB2B

More info about this panel


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