TUBB gene related symptoms and diseases
All the information presented here about the TUBB gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TUBB gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Delayed speech and language development | Very Common - Between 80% and 100% cases |
| Microphthalmia | Very Common - Between 80% and 100% cases |
| Global developmental delay | Very Common - Between 80% and 100% cases |
| Microcephaly | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with TUBB gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Increased number of skin folds
- Thickened skin
- Hypoplasia of dental enamel
- Abnormality of the face
- Hypertrichosis
- Short palpebral fissure
- Dandy-Walker malformation
- Febrile seizures
And 77 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TUBB gene
Here you will find a list of rare diseases related to the TUBB. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6; CDCBM6
Most common symptoms of CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6; CDCBM6
- Intellectual disability
- Global developmental delay
- Microcephaly
- Ataxia
- Delayed speech and language development
More info about CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6; CDCBM6
SOURCES: OMIM
MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS
Alternate names
MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS Is also known as congenital circumferential skin folds, skin creases, multiple benign ring-shaped, of limbs, kunze-riehm syndrome, ccsf, circumferential skin creases, kunze type, michelin tire baby syndrome
Description
Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015).
Most common symptoms of MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS
Search interest in TUBB
Potential gene panels for TUBB gene
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.
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.
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.
Ataxia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panel United States.
Cortical dysplasia, complex, with other brain malformations 6 (sequence analysis of TUBB gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the TUBB gene.
More info about this panel Portugal.
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.
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.
Neurodevelopmental disorder, TUBB-related Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the TUBB gene.
More info about this panel Germany.
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.
TUBB Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TUBB gene.
More info about this panel United States.
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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