GABRG3 gene related symptoms and diseases
All the information presented here about the GABRG3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GABRG3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Drooling | Very Common - Between 80% and 100% cases |
| Low-set, posteriorly rotated ears | Very Common - Between 80% and 100% cases |
| Autistic behavior | Very Common - Between 80% and 100% cases |
| Short philtrum | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with GABRG3 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Synophrys
- Joint hypermobility
- Broad nasal tip
- Tetralogy of Fallot
- Stereotypy
- Precocious puberty
- Deeply set eye
- Unilateral renal agenesis
And 31 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GABRG3 gene
Here you will find a list of rare diseases related to the GABRG3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
DUPLICATION/INVERSION 15Q11
Alternate names
DUPLICATION/INVERSION 15Q11 Is also known as invdup(15), non-distal tetrasomy 15q, isodicentric 15 chromosome, non-telomeric tetrasomy 15q, idic(15)
Description
The duplication/inversion 15q11 or isodicentric 15 chromosome (inv dup(15) or idic(15)) syndrome is a chromosomal disorder with distinctive clinical findings characterized by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behavior.
Most common symptoms of DUPLICATION/INVERSION 15Q11
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about DUPLICATION/INVERSION 15Q11
Search interest in GABRG3
Potential gene panels for GABRG3 gene
Autism Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Autism that also includes the following genes: RPL10 SLC25A12 SLC6A4 UBE3A CNTNAP2 FOXP2 CACNA1C CACNA1F CACNA1H PCDH19
More info about this panel Spain.
GABRG3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GABRG3 gene.
More info about this panel United States.
EPILEPSY GENERALIZED WITH FEBRILE SEIZURES PLUS Panel
Spain.
By Laboratorio de Genetica Clinica SL EPILEPSY GENERALIZED WITH FEBRILE SEIZURES PLUS that also includes the following genes: SCN1A SCN1B SCN2A SCN9A GABRG2 GABRG3
More info about this panel Spain.
PROGRESSIVE MYOCLONIC EPILEPSY/GEFs+ NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL PROGRESSIVE MYOCLONIC EPILEPSY/GEFs+ NGS PANEL that also includes the following genes: SCN1A SCN1B SCN2A SCN9A SGCE SLC6A1 STXBP1 CACNB4 CERS1 PCDH19
More info about this panel Spain.
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