MAGEL2 gene related symptoms and diseases
All the information presented here about the MAGEL2 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 MAGEL2 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Uncommon - Between 30% and 50% cases |
Narrow forehead | Uncommon - Between 30% and 50% cases |
Adducted thumb | Uncommon - Between 30% and 50% cases |
Sleep apnea | Uncommon - Between 30% and 50% cases |
Microretrognathia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with MAGEL2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Increased body weight
- Exotropia
- Open mouth
- Short palpebral fissure
- Decreased fetal movement
- Wide intermamillary distance
- Pterygium
- Esotropia
And 75 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MAGEL2 gene
Here you will find a list of rare diseases related to the MAGEL2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PRADER-WILLI SYNDROME DUE TO A POINT MUTATION
Alternate names
PRADER-WILLI SYNDROME DUE TO A POINT MUTATION Is also known as schaaf-yang syndrome, pws due to a point mutation, pwls, prader-willi-like syndrome
Description
SHFYNG syndrome is an autosomal dominant multisystem disorder characterized by delayed psychomotor development, intellectual disability (ID), hypotonia, and behavioral abnormalities. Additional features include contractures, feeding difficulties, and variable dysmorphic facial features. The severity of the disorder is highly variable: some patients may die in utero with fetal akinesia, whereas others can live with moderate disability. Individuals are affected only if the mutation occurs on the paternal allele, since MAGEL2 is a maternally imprinted gene (summary by Fountain et al., 2017)
Most common symptoms of PRADER-WILLI SYNDROME DUE TO A POINT MUTATION
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about PRADER-WILLI SYNDROME DUE TO A POINT MUTATION
PRADER-WILLI SYNDROME DUE TO IMPRINTING MUTATION
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 MAGEL2
Potential gene panels for MAGEL2 gene
Schaff-Yang (MAGEL2) Sequencing Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
This panel specifically test the MAGEL2 gene.
More info about this panelMonogenic Obesity Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Monogenic Obesity Sequencing Panel that also includes the following genes: SDCCAG8 SIM1 UCP3 ARL6 TRIM32 AFF4 PHF6 SETD2 BBS7 TTC8
More info about this panelMAGEL2 sequencing Panel
By Genetic Services Laboratory University of Chicago
This panel specifically test the MAGEL2 gene.
More info about this panelMonogenic Obesity Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Monogenic Obesity Deletion/Duplication Panel that also includes the following genes: SDCCAG8 SIM1 UCP3 ARL6 TRIM32 AFF4 PHF6 SETD2 BBS7 TTC8
More info about this panelSchaaf-Yang syndrome (sequence analysis of MAGEL2 gene) Panel
By CGC Genetics
This panel specifically test the MAGEL2 gene.
More info about this panelSchaaf-Yang syndrome (deletion/duplication analysis of MAGEL2 gene) Panel
By CGC Genetics
This panel specifically test the MAGEL2 gene.
More info about this panelSchaaf-Yang syndrome (sequence analysis of MAGEL2 gene) Panel
By CGC Genetics
This panel specifically test the MAGEL2 gene.
More info about this panelSchaaf-Yang syndrome (deletion/duplication analysis of MAGEL2 gene) Panel
By CGC Genetics
This panel specifically test the MAGEL2 gene.
More info about this panelAutism Spectrum Disorders Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Autism Spectrum Disorders Sequencing Panel with CNV Detection that also includes the following genes: SCN1A SCN2A SGSH BRAF SLC6A1 SLC9A6 SPAST CDKL5 STXBP1 SYN2
More info about this panelSchaaf-Yang Syndrome via MAGEL2 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the MAGEL2 gene.
More info about this panelComprehensive Monogenic Obesity Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Comprehensive Monogenic Obesity Panel with CNV Detection that also includes the following genes: BDNF SDCCAG8 SIM1 TUB UCP3 KDM6A ARL6 RAB23 TRIM32 PHF6
More info about this panelMental retardation - different panels Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panelMAGEL2 Panel
By MGZ Medical Genetics Center
This panel specifically test the MAGEL2 gene.
More info about this panelMental Retardation and Dysmorphology - panels Panel
By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panelSyndromal Diseases - panels Panel
By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panelAllNeuro panel Panel
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panelSchaaf-Yang syndrome Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the MAGEL2 gene.
More info about this panelSingle gene testing MAGEL2 Panel
By CeGaT GmbH
This panel specifically test the MAGEL2 gene.
More info about this panelAutism Spectrum Disorders Panel
By Asper Biogene Asper Biogene LLC Autism Spectrum Disorders that also includes the following genes: RPL10 SCN1A SCN2A BRAF SLC6A4 SLC6A8 CDKL5 MED12 TSC1 TSC2
More info about this panelAutism Spectrum Disorders: Tier 2 Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Autism Spectrum Disorders: Tier 2 Panel that also includes the following genes: SCN1A BRAF SLC2A1 SLC9A6 SMARCB1 SMC1A KDM5C CDKL5 TCF4 MED12
More info about this panelCongenital Obesity: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Obesity: Sequencing Panel that also includes the following genes: SDCCAG8 SIM1 ARL6 TRIM32 PHF6 BBS7 TTC8 VPS13B BBS10 BBS12
More info about this panelAutism Spectrum Disorders: Tier 2 Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel that also includes the following genes: SCN1A BRAF SLC2A1 SLC9A6 SMARCB1 SMC1A KDM5C CDKL5 TCF4 MED12
More info about this panelDiabetes-Obesity NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Diabetes-Obesity NGS Panel that also includes the following genes: BDNF SDCCAG8 SIM1 HNF1A HNF1B WFS1 ARL6 NEUROG3 TRIM32 CEL
More info about this panelMAGEL2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MAGEL2 gene.
More info about this panelMonogenic Obesity Panel Panel
By Blueprint Genetics Monogenic Obesity Panel that also includes the following genes: SDCCAG8 SIM1 UCP3 ARL6 TRIM32 PHF6 KSR2 BBS7 TTC8 VPS13B
More info about this panelExome Panel
By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. Exome that also includes the following genes: RPL10 ATXN1 ATXN2 ATXN8OS SEMA3E GEMIN2 BRAF BRCA1 BRCA2 SOX9
More info about this panelPRADER-WILLI & ANGELMAN SYNDROME Panel
By Laboratorio de Genetica Clinica SL PRADER-WILLI & ANGELMAN SYNDROME that also includes the following genes: UBE3A MAGEL2
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