RNF168 gene related symptoms and diseases
All the information presented here about the RNF168 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to RNF168 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Global developmental delay | Very Common - Between 80% and 100% cases |
| Recurrent viral infections | Very Common - Between 80% and 100% cases |
| Restrictive ventilatory defect | Very Common - Between 80% and 100% cases |
| Interstitial pulmonary abnormality | Very Common - Between 80% and 100% cases |
| Bronchitis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with RNF168 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Recurrent sinusitis
- IgA deficiency
- Episodic fever
- IgG deficiency
- Chronic sinusitis
- Mild global developmental delay
- Demyelinating peripheral neuropathy
- Emotional lability
And 35 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to RNF168 gene
Here you will find a list of rare diseases related to the RNF168. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
RIDDLE SYNDROME
Alternate names
RIDDLE SYNDROME Is also known as rnf168 deficiency, radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome, radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties
Description
A rare, genetic, primary immunodeficiency disorder characterized by increased radiosensitivity(R), mild immunodeficiency (ID), dysmorphic features (D), and learning difficulties (LE).
Most common symptoms of RIDDLE SYNDROME
- Global developmental delay
- Short stature
- Microcephaly
- Ataxia
- Neoplasm
More info about RIDDLE SYNDROME
Search interest in RNF168
Potential gene panels for RNF168 gene
Ataxia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panel United States.
Syndromes with immunodeficiency Panel Panel
Germany.
By CeGaT GmbH Syndromes with immunodeficiency Panel that also includes the following genes: RMRP RUNX2 BLM SMARCAL1 STAT3 TBX1 TERC TERT TINF2 TREX1
More info about this panel Germany.
RNF168 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the RNF168 gene.
More info about this panel United States.
Primary Immunodeficiency Panel Panel
Finland.
By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK
More info about this panel Finland.
Comprehensive Hematology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26
More info about this panel Finland.
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