CD96 gene related symptoms and diseases
All the information presented here about the CD96 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CD96 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Omphalocele | Very Common - Between 80% and 100% cases |
| Renal hypoplasia/aplasia | Very Common - Between 80% and 100% cases |
| Sacral dimple | Very Common - Between 80% and 100% cases |
| Aplasia/Hypoplasia of the corpus callosum | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with CD96 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Cutis laxa
- Short chin
- Joint dislocation
- Multicystic kidney dysplasia
- Horseshoe kidney
- Bilateral single transverse palmar creases
- Gingival overgrowth
- Abnormality of the genital system
And 100 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CD96 gene
Here you will find a list of rare diseases related to the CD96. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
C SYNDROME
Alternate names
C SYNDROME Is also known as opitz c trigonocephaly, trigonocephaly syndrome, trigonocephaly c syndrome, otcs, opitz trigonocephaly syndrome, opitz trigonocephaly c syndrome
Description
C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.
Most common symptoms of C SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about C SYNDROME
Search interest in CD96
Potential gene panels for CD96 gene
Craniofacial Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Craniofacial Sequencing Panel that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 ALX1
More info about this panel United States.
Craniofacial Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Craniofacial Deletion/Duplication Panel that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 ALX1
More info about this panel United States.
CD96. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CD96 gene.
More info about this panel Spain.
Craniosynostosis Sequence Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniosynostosis Sequence Analysis that also includes the following genes: RUNX2 SKI TCF12 TWIST1 ZIC1 IFT122 RAB23 CD96 SPECC1L WDR35
More info about this panel United States.
Craniofacial Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Del/Dup Panel that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1
More info about this panel United States.
Craniosynostosis Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniosynostosis Del/Dup Panel that also includes the following genes: RUNX2 SKI TCF12 TWIST1 ZIC1 IFT122 RAB23 CD96 SPECC1L WDR35
More info about this panel United States.
Craniosynostosis Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniosynostosis Seq + Del/Dup Panel that also includes the following genes: RUNX2 SKI TCF12 TWIST1 ZIC1 IFT122 RAB23 CD96 SPECC1L WDR35
More info about this panel United States.
Craniofacial Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Seq + Del/Dup Panel that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1
More info about this panel United States.
Craniofacial Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Seq Analysis that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1
More info about this panel United States.
C syndrome (sequence analysis of CD96 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CD96 gene.
More info about this panel Portugal.
C syndrome (deletion/duplication analysis of CD96 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CD96 gene.
More info about this panel Portugal.
C syndrome (deletion/duplication analysis of CD96 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CD96 gene.
More info about this panel Portugal.
C syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CD96 gene.
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.
Single gene testing CD96 Panel
Germany.
By CeGaT GmbH
This panel specifically test the CD96 gene.
More info about this panel Germany.
C syndrome Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the CD96 gene.
More info about this panel Austria.
C syndrome Panel
Slovakia.
By MedGene
This panel specifically test the CD96 gene.
More info about this panel Slovakia.
Opitz C syndrome: CD96 gene mutation analysis (T280M) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the CD96 gene.
More info about this panel Spain.
CD96 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CD96 gene.
More info about this panel United States.
C syndrome Panel
Spain.
By Bioarray
This panel specifically test the CD96 gene.
More info about this panel Spain.
C syndrome Panel
Spain.
By Bioarray
This panel specifically test the CD96 gene.
More info about this panel Spain.
Opitz C Syndrome , Sequencing CD96 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the CD96 gene.
More info about this panel Spain.
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel that also includes the following genes: RNASEL RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2
More info about this panel Canada.
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