SOX11 gene related symptoms and diseases
All the information presented here about the SOX11 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SOX11 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Depressed nasal bridge | Very Common - Between 80% and 100% cases |
| Short stature | Very Common - Between 80% and 100% cases |
| Short philtrum | Very Common - Between 80% and 100% cases |
| Microcephaly | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SOX11 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Short distal phalanx of finger
- Intrauterine growth retardation
- Long eyelashes
- Hypoplastic fifth toenail
- Ptosis
Not very common - Between 30% and 50% cases
- Low-set ears
- Abnormal facial shape
- Growth delay
And 70 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SOX11 gene
Here you will find a list of rare diseases related to the SOX11. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
COFFIN-SIRIS SYNDROME
Alternate names
COFFIN-SIRIS SYNDROME Is also known as css
Description
Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations.
Most common symptoms of COFFIN-SIRIS SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
More info about COFFIN-SIRIS SYNDROME
SOURCES: ORPHANET
MENTAL RETARDATION, AUTOSOMAL DOMINANT 27; MRD27
Most common symptoms of MENTAL RETARDATION, AUTOSOMAL DOMINANT 27; MRD27
- Intellectual disability
- Short stature
- Microcephaly
- Growth delay
- Abnormal facial shape
More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 27; MRD27
SOURCES: OMIM
Search interest in SOX11
Potential gene panels for SOX11 gene
Coffin-Siris Syndrome Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Coffin-Siris Syndrome Panel that also includes the following genes: SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A SMC1A SOX11 BTD HDAC8 ADNP
More info about this panel United States.
Cornelia de Lange Syndrome PLUS Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Cornelia de Lange Syndrome PLUS Sequencing Panel that also includes the following genes: ROR2 SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A SMC1A SOX11 WNT5A HDAC8
More info about this panel United States.
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.
Coffin-Siris syndrome Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Coffin-Siris syndrome Sequencing Panel that also includes the following genes: SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A SOX11 ADNP ARID1B PHF6 ANKRD11
More info about this panel United States.
Coffin-Siris syndrome Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Coffin-Siris syndrome Deletion/Duplication Panel that also includes the following genes: SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A SOX11 ADNP ARID1B PHF6 ANKRD11
More info about this panel United States.
Cornelia de Lange PLUS Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Cornelia de Lange PLUS Deletion/Duplication Panel that also includes the following genes: ROR2 SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A SMC1A SOX11 WNT5A HDAC8
More info about this panel United States.
Microcephaly Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Microcephaly Deletion/Duplication Panel that also includes the following genes: STIL SLC1A4 SLC2A1 SLC9A6 SOX11 PLK4 CDKL5 TCF4 UBE3A USP18
More info about this panel United States.
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection that also includes the following genes: ROBO2 SALL1 BMP4 BMP7 SIX1 SIX2 SIX5 SOX11 TBX18 HNF1B
More info about this panel United States.
Coffin-Siris Syndrome Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Coffin-Siris Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 ARID1A SOX11 ARID1B
More info about this panel United States.
Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Sequencing Panel with CNV Detection that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 ARID1A SMC1A SOX11 TAF1 TAF6 MED12 HDAC8
More info about this panel United States.
Mental retardation, autosomal dominant type 27 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SOX11 gene.
More info about this panel Germany.
SOX11 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SOX11 gene.
More info about this panel United States.
COFFIN-SIRIS SYNDROME NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL COFFIN-SIRIS SYNDROME NGS PANEL that also includes the following genes: SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A SOX11 ARID1B PHF6
More info about this panel Spain.
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