SNRPN gene related symptoms and diseases
All the information presented here about the SNRPN gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SNRPN gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Rare - less than 30% cases |
| Nasal speech | Rare - less than 30% cases |
| Spontaneous abortion | Rare - less than 30% cases |
| Narrow palpebral fissure | Rare - less than 30% cases |
| Bicuspid aortic valve | Rare - less than 30% cases |
Other less frequent symptoms and clinical features
Patients with SNRPN gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Sleep apnea
- Scrotal hypoplasia
- Infantile muscular hypotonia
- Poor suck
- Failure to thrive in infancy
- Increased body weight
- Precocious puberty
- Hyperinsulinemia
And 153 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SNRPN gene
Here you will find a list of rare diseases related to the SNRPN. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PRADER-WILLI SYNDROME; PWS
Alternate names
PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome
Description
Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.
Most common symptoms of PRADER-WILLI SYNDROME; PWS
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about PRADER-WILLI SYNDROME; PWS
SOURCES: OMIM
PRADER-WILLI SYNDROME DUE TO TRANSLOCATION
PRADER-WILLI SYNDROME DUE TO IMPRINTING MUTATION
ANGELMAN SYNDROME DUE TO IMPRINTING DEFECT IN 15Q11-Q13
PRADER-WILLI SYNDROME DUE TO MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 15
Alternate names
PRADER-WILLI SYNDROME DUE TO MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 15 Is also known as upd(15)mat
More info about PRADER-WILLI SYNDROME DUE TO MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 15
SOURCES: ORPHANET
Search interest in SNRPN
Potential gene panels for SNRPN gene
Angelman syndrome Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Angelman syndrome that also includes the following genes: SNRPN UBE3A
More info about this panel United States.
Prader-Willi syndrome Panel
United States.
By Center for Human Genetics, Inc
This panel specifically test the SNRPN gene.
More info about this panel United States.
Prader-Willi Syndrome Panel
United States.
By UCSF Molecular Diagnostics Laboratory University of California, San Francisco
This panel specifically test the SNRPN gene.
More info about this panel United States.
Test for Angelman Syndrome Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the SNRPN gene.
More info about this panel Netherlands.
Test for Prader-Willi Syndrome Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the SNRPN gene.
More info about this panel Netherlands.
Prader-Willi Syndrome, Methylation Analysis Panel
United States.
By Center for Genetics at Saint Francis Saint Francis Hospital
This panel specifically test the SNRPN gene.
More info about this panel United States.
Angelman Syndrome, Methylation Studies Panel
United States.
By Center for Genetics at Saint Francis Saint Francis Hospital
This panel specifically test the SNRPN gene.
More info about this panel United States.
Angelman Syndrome Test Panel
United States.
By Genetics Laboratory - Department of Pathology Rush University Medical Center
This panel specifically test the SNRPN gene.
More info about this panel United States.
Prader-Willi Syndrome Test Panel
United States.
By Genetics Laboratory - Department of Pathology Rush University Medical Center
This panel specifically test the SNRPN gene.
More info about this panel United States.
Angelman Syndrome Methylation and Deletion/Duplication Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
This panel specifically test the SNRPN gene.
More info about this panel United States.
Prader-Willi Syndrome Methylation and Deletion/Duplication Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
This panel specifically test the SNRPN gene.
More info about this panel United States.
Prader Willi-Angelman Syndrome Methylation-Specific PCR Analysis Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the SNRPN gene.
More info about this panel United States.
Prader-Willi syndrome Panel
United States.
By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories
This panel specifically test the SNRPN gene.
More info about this panel United States.
Prader-Willi Syndrome Panel
United States.
By Molecular and Biochemical Genetics Laboratory Dayton Children's Hospital
This panel specifically test the SNRPN gene.
More info about this panel United States.
Angelman Syndrome Panel
United States.
By Molecular and Biochemical Genetics Laboratory Dayton Children's Hospital
This panel specifically test the SNRPN gene.
More info about this panel United States.
Prader Willi syndrome Panel
United States.
By Genetics Laboratory Shodair Children's Hospital
This panel specifically test the SNRPN gene.
More info about this panel United States.
Prader-Willi Syndrome Panel
United States.
By Center for Human Genetics Laboratory University Hospitals - University Hospitals Laboratory Service Foundation
This panel specifically test the SNRPN gene.
More info about this panel United States.
Prader Willi Syndrome Methylation Analysis Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the SNRPN gene.
More info about this panel United States.
Angelman Syndrome Panel
United States.
By Genetics Laboratory Shodair Children's Hospital
This panel specifically test the SNRPN gene.
More info about this panel United States.
Prader-Willi Syndrome Panel
United States.
By Genetics Laboratory Shodair Children's Hospital
This panel specifically test the SNRPN gene.
More info about this panel United States.
Prader-Willi/Angelman Methylation Panel
United States.
By Michigan State University Clinical Genetics Laboratory Michigan State University
This panel specifically test the SNRPN gene.
More info about this panel United States.
Prader-Willi Syndrome Panel
New Zealand.
By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital
This panel specifically test the SNRPN gene.
More info about this panel New Zealand.
Angelman Syndrome and Prader-Willi Syndrome by Methylation-Sensitive PCR Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the SNRPN gene.
More info about this panel United States.
Prader-Willi Syndrome (methylation test) Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the SNRPN gene.
More info about this panel Netherlands.
Angelman Syndrome (methylation test) Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the SNRPN gene.
More info about this panel Netherlands.
Angelman and Prader-Willi Syndrome - MS-PCR Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia
This panel specifically test the SNRPN gene.
More info about this panel United States.
Angelman Syndrome Panel - MS-PCR, Seq and Del/Dup analysis of UBE3A, and Sequence analysis of SLC9A6 Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Angelman Syndrome Panel - MS-PCR, Seq and Del/Dup analysis of UBE3A, and Sequence analysis of SLC9A6 that also includes the following genes: SLC9A6 SNRPN UBE3A
More info about this panel United States.
Prader-Willi syndrome Panel
United States.
By Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
This panel specifically test the SNRPN gene.
More info about this panel United States.
Angelman Syndrome Methylation Analysis Panel
United States.
By Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital Angelman Syndrome Methylation Analysis that also includes the following genes: SNRPN UBE3A
More info about this panel United States.
Prader-Willi syndrome (sequence analysis of SNRPN gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SNRPN gene.
More info about this panel Portugal.
Prader-Willi Syndrome Panel
United States.
By University of Iowa Diagnostic Laboratories University of Iowa Hospitals and Clinics
This panel specifically test the SNRPN gene.
More info about this panel United States.
Angelman Syndrome Panel
United States.
By University of Iowa Diagnostic Laboratories University of Iowa Hospitals and Clinics
This panel specifically test the SNRPN gene.
More info about this panel United States.
Prader-Willi Syndrome by MS-MLPA Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the SNRPN gene.
More info about this panel United States.
Angelman Syndrome Panel
Argentina.
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada"
This panel specifically test the SNRPN gene.
More info about this panel Argentina.
Prader-Willi Syndrome Panel
Argentina.
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada"
This panel specifically test the SNRPN gene.
More info about this panel Argentina.
Angelman Syndrome Panel
Germany.
By Bioscientia GmbH Center for Human Genetics Angelman Syndrome that also includes the following genes: SNRPN UBE3A
More info about this panel Germany.
Prader-Willi Syndrome Panel
Germany.
By Bioscientia GmbH Center for Human Genetics Prader-Willi Syndrome that also includes the following genes: SNRPN NDN
More info about this panel Germany.
Prader-Willi syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SNRPN gene.
More info about this panel Germany.
SNRPN Methylation PCR (Prader-Willi/Angelman Syndrome) Panel
United States.
By Michigan Medical Genetics Laboratories University of Michigan
This panel specifically test the SNRPN gene.
More info about this panel United States.
Prader-Willi/Angelman Syndrome, Methylation PCR Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the SNRPN gene.
More info about this panel United States.
Angelman syndrome Panel
United States.
By Cytogenetics and Molecular Diagnostics Lab CGC Genetics USA Angelman syndrome that also includes the following genes: SNRPN UBE3A
More info about this panel United States.
Prader Willi/Angelman syndrome MS-PCR Panel
Singapore.
By Molecular Diagnosis Centre National University Hospital Prader Willi/Angelman syndrome MS-PCR that also includes the following genes: SNRPN UBE3A
More info about this panel Singapore.
FISH Analysis for Prader-Willi Syndrome Panel
United States.
By BayCare Laboratories, LLC BayCare Health System
This panel specifically test the SNRPN gene.
More info about this panel United States.
qChip Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1
More info about this panel Spain.
Prader-Willi / Angelman syndrome: Uniparental disomy Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SNRPN gene.
More info about this panel Spain.
Prader-Willi / Angelman syndrome: SNRPN gene methylation analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SNRPN gene.
More info about this panel Spain.
Prader-Willi / Angelman syndrome: Region 15q11 deletions-duplications analysis (MLPA) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Prader-Willi / Angelman syndrome: Region 15q11 deletions-duplications analysis (MLPA) that also includes the following genes: SNRPN UBE3A
More info about this panel Spain.
Prader-Willi/Angelman: Methylation Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the SNRPN gene.
More info about this panel United States.
Congenital Hypotonia Panel: Spinal Muscular Atrophy Deletions, Prader-Willi/Angelman Syndrome Methylation, Myotonic Dystrophy, and Uniparental Disomy 14 Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Hypotonia Panel: Spinal Muscular Atrophy Deletions, Prader-Willi/Angelman Syndrome Methylation, Myotonic Dystrophy, and Uniparental Disomy 14 that also includes the following genes: SMN1 SNRPN MEG3 DMPK
More info about this panel United States.
Prader-Willi/Angelman Syndrome DNA Methylation (NY) Panel
United States.
By Quest Diagnostics Nichols Institute Chantilly
This panel specifically test the SNRPN gene.
More info about this panel United States.
Prader-Willi/Angelman Syndrome DNA Methylation (non-NY) Panel
United States.
By Quest Diagnostics Nichols Institute Chantilly
This panel specifically test the SNRPN gene.
More info about this panel United States.
Autism NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Autism NGS Panel that also includes the following genes: RPL10 BDNF SCN1A SCN2A BRAF SLC6A4 SLC9A6 SMC1A KDM5C SNRPN
More info about this panel United States.
SNRPN Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SNRPN gene.
More info about this panel United States.
Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes Panel
Spain.
By Reference Laboratory Genetics Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes that also includes the following genes: RPL10 BDNF SCN1A SCN2A BRAF SLC6A4 SLC9A6 SMC1A KDM5C SNRPN
More info about this panel Spain.
Angelman syndrome Panel
Germany.
By Labor Dr. Wisplinghoff Angelman syndrome that also includes the following genes: SNRPN UBE3A
More info about this panel Germany.
Prader-Willi syndrome Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the SNRPN gene.
More info about this panel Germany.
Methylation study for Prader Willi and Angelman Syndrome Panel
India.
By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics
This panel specifically test the SNRPN gene.
More info about this panel India.
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