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.

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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

SOURCES: ORPHANET OMIM MESH


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

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

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

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

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

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

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

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

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

C syndrome (sequence analysis of CD96 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CD96 gene.

More info about this panel

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

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

C syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CD96 gene.

More info about this panel

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

Single gene testing CD96 Panel

Germany.

By CeGaT GmbH

This panel specifically test the CD96 gene.

More info about this panel

C syndrome Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the CD96 gene.

More info about this panel

C syndrome Panel

Slovakia.

By MedGene

This panel specifically test the CD96 gene.

More info about this panel

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

CD96 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CD96 gene.

More info about this panel

C syndrome Panel

Spain.

By Bioarray

This panel specifically test the CD96 gene.

More info about this panel

C syndrome Panel

Spain.

By Bioarray

This panel specifically test the CD96 gene.

More info about this panel

Opitz C Syndrome , Sequencing CD96 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CD96 gene.

More info about this panel

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


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