CIC gene related symptoms and diseases
All the information presented here about the CIC 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 CIC gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Seizures | Uncommon - Between 30% and 50% cases |
| Global developmental delay | Uncommon - Between 30% and 50% cases |
| Generalized hypotonia | Uncommon - Between 30% and 50% cases |
| Delayed speech and language development | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with CIC gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Behavioral abnormality
- Hyperactivity
- Developmental regression
- Attention deficit hyperactivity disorder
- Abnormality of the cerebral white matter
- Poor speech
- Generalized myoclonic seizures
- Focal-onset seizure
And 2 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CIC gene
Here you will find a list of rare diseases related to the CIC. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MENTAL RETARDATION, AUTOSOMAL DOMINANT 45; MRD45
Most common symptoms of MENTAL RETARDATION, AUTOSOMAL DOMINANT 45; MRD45
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Delayed speech and language development
More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 45; MRD45
SOURCES: OMIM
AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY
Search interest in CIC
Potential gene panels for CIC gene
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection that also includes the following genes: BDNF RPS6KA3 SCN2A SCN8A SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMC1A KDM5C
More info about this panel United States.
CIC Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CIC gene.
More info about this panel United States.
Hemato-oncology chromosomal microarray Panel
United States.
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Hemato-oncology chromosomal microarray that also includes the following genes: BLM BRAF BRCA1 BRCA2 SMARCB1 KDM5C SMO ABI1 SSX1 SSX2
More info about this panel United States.
CNS Tumor Gene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis CNS Tumor Gene Set that also includes the following genes: SHH BRAF SMARCA4 SMARCB1 SMO TERT MED12 TP53 WNT1 WT1
More info about this panel United States.
FoundationOne® Heme Panel
United States.
By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1
More info about this panel United States.
NeoTYPE® Discovery Profile for Solid Tumors Panel
United States.
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2
More info about this panel United States.
Caris MI TumorSeek 592-Gene NGS Panel Panel
United States.
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panel United States.
Providence Personalized Medicine Panel - Solid Tumor Panel
United States.
By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2
More info about this panel United States.
Tempus xT assay Panel
United States.
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panel United States.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
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