RAC1 gene related symptoms and diseases
All the information presented here about the RAC1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to RAC1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Cerebellar vermis hypoplasia | Very Common - Between 80% and 100% cases |
| Feeding difficulties in infancy | Very Common - Between 80% and 100% cases |
| Abnormality of the pinna | Very Common - Between 80% and 100% cases |
| Prominent nasal bridge | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with RAC1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Polymicrogyria
- Highly arched eyebrow
- Eczema
- Open mouth
- Hypospadias
- Stereotypy
- Long palpebral fissure
- Low hanging columella
And 24 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to RAC1 gene
Here you will find a list of rare diseases related to the RAC1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MICROCEPHALY-CORPUS CALLOSUM AND CEREBELLAR VERMIS HYPOPLASIA-FACIAL DYSMORPHISM-INTELLECTUAL DISABILITY SYNDROM
Most common symptoms of MICROCEPHALY-CORPUS CALLOSUM AND CEREBELLAR VERMIS HYPOPLASIA-FACIAL DYSMORPHISM-INTELLECTUAL DISABILITY SYNDROM
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
More info about MICROCEPHALY-CORPUS CALLOSUM AND CEREBELLAR VERMIS HYPOPLASIA-FACIAL DYSMORPHISM-INTELLECTUAL DISABILITY SYNDROM
Search interest in RAC1
Potential gene panels for RAC1 gene
Custom solid tumor gene sequencing panel Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center Custom solid tumor gene sequencing panel that also includes the following genes: SF3B1 FOXL2 BRAF TP53 TYRP1 XPC CCND1 CDK4 CDK6 CDKN2A
More info about this panel United States.
NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME that also includes the following genes: RIT1 SHOX BRAF SOS1 SPRY2 SRC CD2AP GAB2 CBL SHOC2
More info about this panel Spain.
RAC1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the RAC1 gene.
More info about this panel United States.
Melanoma Gene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis Melanoma Gene Set that also includes the following genes: ROS1 BRAF TERT MED12 TP53 KMT2C CCND1 CDK4 CDKN2A CTNNB1
More info about this panel United States.
Breast Tumors Gene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis Breast Tumors Gene Set that also includes the following genes: RUNX1 BRAF BRCA1 BRCA2 STK11 TP53 FBXW7 RAD54B CDH1 CDK4
More info about this panel United States.
Head & Neck Tumors Gene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis Head & Neck Tumors Gene Set that also includes the following genes: BRCA1 BRCA2 TGFBR2 TP53 KDM6A KMT2C NSD1 CCND1 FBXW7 CDKN2A
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.
OmniSeq Comprehensive Panel
United States.
By OmniSeq, Inc. OmniSeq Comprehensive that also includes the following genes: RHEB BCL9 ROS1 RPS6KB1 SF3B1 FOXL2 BRAF BRCA1 BRCA2 SMARCB1
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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