TUBB2B gene related symptoms and diseases

All the information presented here about the TUBB2B 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 TUBB2B gene

Symptoms // Phenotype % Cases
Intellectual disability Common - Between 50% and 80% cases
Cerebellar atrophy Common - Between 50% and 80% cases
Abnormality of the eye Uncommon - Between 30% and 50% cases
Progressive cerebellar ataxia Uncommon - Between 30% and 50% cases
Gait ataxia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with TUBB2B gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Seizures
  • Strabismus
  • Ataxia
  • Hypoplasia of the brainstem
  • Pachygyria
  • Congenital fibrosis of extraocular muscles
  • Cognitive impairment
  • Microcephaly

And 73 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to TUBB2B gene

Here you will find a list of rare diseases related to the TUBB2B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


POLYMICROGYRIA DUE TO TUBB2B MUTATION

Alternate names

POLYMICROGYRIA DUE TO TUBB2B MUTATION Is also known as polymicrogyria, symmetric or asymmetric, pmgysa

Description

Complex cortical dysplasia with other brain malformations-7 is an autosomal dominant, clinically heterogeneous disorder showing a wide spectrum of abnormalities of cortical brain development. The most severely affected patients are fetuses with microlissencephaly, absence of the cortical plate, agenesis of the corpus callosum, and severely hypoplastic brainstem and cerebellum. Other patients have lissencephaly, polymicrogyria, cortical dysplasia, or neuronal heterotopia. Those with less severe malformations can survive, but usually have some degree of neurologic impairment, such as mental retardation, seizures, and movement abnormalities (summary by Chang et al., 2006; Fallet-Bianco et al., 2014).For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (OMIM ).

Most common symptoms of POLYMICROGYRIA DUE TO TUBB2B MUTATION

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


More info about POLYMICROGYRIA DUE TO TUBB2B MUTATION

SOURCES: OMIM ORPHANET

DYSEQUILIBRIUM SYNDROME

Alternate names

DYSEQUILIBRIUM SYNDROME Is also known as cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome, cerebellar hypoplasia, vldlr-associated, non-progressive cerebellar ataxia-intellectual disability syndrome, cerebellar ataxia and mental retardation with or without quadrupedal loco

Description

Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.

Most common symptoms of DYSEQUILIBRIUM SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about DYSEQUILIBRIUM SYNDROME

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

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 TUBB2B gene

Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations that also includes the following genes: SHH STIL SIX3 TUBA8 SLC25A19 DEAF1 ARFGEF2 RAB3GAP1 CENPJ NDE1

More info about this panel
United States.

Epilepsy Advanced Sequencing and CNV Evaluation Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5

More info about this panel
United States.

Comprehensive Brain Malformation Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Brain Malformation Panel that also includes the following genes: SHH STIL SIX3 SLC9A6 SOX2 CDKL5 TGIF1 MED12 CEP41 TUBA8

More info about this panel
United States.

TUBB2B sequencing Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the TUBB2B gene.

More info about this panel
United States.

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
United States.

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
United States.

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
United States.

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
United States.

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
United States.

TUBB2B deletion/duplication analysis Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the TUBB2B gene.

More info about this panel
United States.

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
United States.

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
United States.

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
United States.

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
United States.

TUBB2B Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the TUBB2B gene.

More info about this panel
Germany.

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
United States.

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
United States.

Congenital fibrosis of extraocular muscles (sequence analysis of TUBB2B gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the TUBB2B gene.

More info about this panel
Portugal.

Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) Panel

Portugal.

By CGC Genetics Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) that also includes the following genes: STIL BUB1B TUBG1 VRK1 SLC25A19 NIN CASK TSEN34 ZNF335 PCNT

More info about this panel
Portugal.

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
United States.

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

More info about this panel
United States.

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
United States.

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

More info about this panel
United States.

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
United States.

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel
Germany.

Eye Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2

More info about this panel
Germany.

Lissencephaly Panel

Germany.

By MGZ Medical Genetics Center Lissencephaly that also includes the following genes: TUBG1 TUBA1A DCX TUBB2B KIF2A PAFAH1B1 RELN

More info about this panel
Germany.

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
Germany.

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
Germany.

Polymicrogyria asymmetric Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the TUBB2B gene.

More info about this panel
Germany.

Microcephaly TUBB2B related Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the TUBB2B gene.

More info about this panel
Germany.

Microcephaly panel Panel

Germany.

By Centogene AG - the Rare Disease Company Microcephaly panel that also includes the following genes: MSMO1 STIL SLC25A19 CASK PCNT CENPJ NDE1 TUBGCP6 IER3IP1 CDK5RAP2

More info about this panel
Germany.

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel
Germany.

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
Germany.

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
Germany.

Single gene testing TUBB2B Panel

Germany.

By CeGaT GmbH

This panel specifically test the TUBB2B gene.

More info about this panel
Germany.

Test for Polymicrogyria, Asymmetric Panel

United Kingdom.

By All Wales Genetics Laboratory Institute of Medical Genetics

This panel specifically test the TUBB2B gene.

More info about this panel
United Kingdom.

Microcephaly Panel

Estonia.

By Asper Biogene Asper Biogene LLC Microcephaly that also includes the following genes: STIL SLC25A19 CASK PCNT CENPJ NDE1 TUBGCP6 IER3IP1 CDK5RAP2 ASPM

More info about this panel
Estonia.

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
Estonia.

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

More info about this panel
United States.

Neurology: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neurology: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL SIX3

More info about this panel
United States.

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
United States.

Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A

More info about this panel
United States.

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

More info about this panel
United States.

Microcephaly NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Microcephaly NGS Panel that also includes the following genes: MSMO1 STIL BUB1B VRK1 SLC25A19 CASK TSEN34 PCNT CENPJ NDE1

More info about this panel
United States.

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

More info about this panel
United States.

TUBB2B Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TUBB2B gene.

More info about this panel
United States.

Comprehensive Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B

More info about this panel
United States.

Microcephaly and Pontocerebellar Hypoplasia Panel Panel

Finland.

By Blueprint Genetics Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: STIL PLK4 VRK1 XRCC4 GFM1 CASK PCNT TUBGCP4 STAMBP CENPJ

More info about this panel
Finland.

Lissencephaly Panel Panel

Finland.

By Blueprint Genetics Lissencephaly Panel that also includes the following genes: TUBG1 VLDLR YWHAE ACTB ACTG1 ARX ATP6V0A2 TUBA1A POMGNT2 DCX

More info about this panel
Finland.

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
Finland.

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
Finland.

POLYMICROGYRIA, ASYMMETRIC Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the TUBB2B gene.

More info about this panel
Spain.

Symmetric or Asymmetric Polymicrogyria , Sequencing TUBB2B Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the TUBB2B gene.

More info about this panel
Spain.

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
Spain.

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

More info about this panel
Spain.

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
Canada.

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