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.

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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

SOURCES: ORPHANET OMIM

PRADER-WILLI SYNDROME DUE TO IMPRINTING MUTATION



More info about PRADER-WILLI SYNDROME DUE TO IMPRINTING MUTATION

SOURCES: ORPHANET

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


Potential gene panels for MAGEL2 gene

Schaff-Yang (MAGEL2) Sequencing Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center

This panel specifically test the MAGEL2 gene.

More info about this panel

Monogenic Obesity Sequencing Panel Panel

United States.

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 panel

MAGEL2 sequencing Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the MAGEL2 gene.

More info about this panel

Monogenic Obesity Deletion/Duplication Panel Panel

United States.

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 panel

Schaaf-Yang syndrome (sequence analysis of MAGEL2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MAGEL2 gene.

More info about this panel

Schaaf-Yang syndrome (deletion/duplication analysis of MAGEL2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MAGEL2 gene.

More info about this panel

Schaaf-Yang syndrome (sequence analysis of MAGEL2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MAGEL2 gene.

More info about this panel

Schaaf-Yang syndrome (deletion/duplication analysis of MAGEL2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MAGEL2 gene.

More info about this panel

Autism Spectrum Disorders Sequencing Panel with CNV Detection Panel

United States.

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 panel

Schaaf-Yang Syndrome via MAGEL2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the MAGEL2 gene.

More info about this panel

Comprehensive Monogenic Obesity Panel with CNV Detection Panel

United States.

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 panel

Mental retardation - different panels Panel

Germany.

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 panel

MAGEL2 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the MAGEL2 gene.

More info about this panel

Mental Retardation and Dysmorphology - panels Panel

Germany.

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 panel

Syndromal Diseases - panels Panel

Germany.

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 panel

AllNeuro panel Panel

Germany.

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 panel

Schaaf-Yang syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MAGEL2 gene.

More info about this panel

Single gene testing MAGEL2 Panel

Germany.

By CeGaT GmbH

This panel specifically test the MAGEL2 gene.

More info about this panel

Autism Spectrum Disorders Panel

Estonia.

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 panel

Autism Spectrum Disorders: Tier 2 Panel Panel

United States.

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 panel

Congenital Obesity: Sequencing Panel Panel

United States.

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 panel

Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel Panel

United States.

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 panel

Diabetes-Obesity NGS Panel Panel

United States.

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 panel

MAGEL2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MAGEL2 gene.

More info about this panel

Monogenic Obesity Panel Panel

Finland.

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 panel

Exome Panel

Brazil.

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 panel

PRADER-WILLI & ANGELMAN SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL PRADER-WILLI & ANGELMAN SYNDROME that also includes the following genes: UBE3A MAGEL2

More info about this panel


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