TAF2 gene related symptoms and diseases
All the information presented here about the TAF2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TAF2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Seizures | 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 |
| Nystagmus | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with TAF2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Spasticity
- Hyperreflexia
- Hypoplasia of the corpus callosum
- Babinski sign
- Abnormal pyramidal sign
- Abnormality of the foot
- Poor speech
- Delayed myelination
And 3 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TAF2 gene
Here you will find a list of rare diseases related to the TAF2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MICROCEPHALY-THIN CORPUS CALLOSUM-INTELLECTUAL DISABILITY SYNDROME
Description
Microcephaly-thin corpus callosum-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated.
Most common symptoms of MICROCEPHALY-THIN CORPUS CALLOSUM-INTELLECTUAL DISABILITY SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Microcephaly
- Nystagmus
More info about MICROCEPHALY-THIN CORPUS CALLOSUM-INTELLECTUAL DISABILITY SYNDROME
Search interest in TAF2
Potential gene panels for TAF2 gene
Non-Specific Intellectual Disability Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Non-Specific Intellectual Disability Panel that also includes the following genes: RPS6KA3 CLIP1 SCN2A ST3GAL3 SLC16A2 SLC25A1 SLC6A8 SLC9A6 SMARCA4 SMARCB1
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.
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.
TAF2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TAF2 gene.
More info about this panel United States.
Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes Panel
Spain.
By Reference Laboratory Genetics Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes that also includes the following genes: RPS6KA3 ST3GAL3 SLC6A8 SMARCA4 SMARCB1 ARID1A KDM5C STXBP1 SYNGAP1 SYP
More info about this panel Spain.
Autosomal Recessive Mental Retardation, Panel Massive Sequencing (NGS) 32 Genes Panel
Spain.
By Reference Laboratory Genetics Autosomal Recessive Mental Retardation, Panel Massive Sequencing (NGS) 32 Genes that also includes the following genes: ST3GAL3 STXBP1 TAF2 VLDLR ERLIN2 CA8 CNTNAP2 FMN2 ZC3H14 CRADD
More info about this panel Spain.
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