A2ML1 gene related symptoms and diseases

All the information presented here about the A2ML1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to A2ML1 gene

Symptoms // Phenotype % Cases
Otitis media Very Common - Between 80% and 100% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Premature skin wrinkling Uncommon - Between 30% and 50% cases
Aortic root aneurysm Uncommon - Between 30% and 50% cases
Acute lymphoblastic leukemia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with A2ML1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Pulmonary artery stenosis
  • Abnormality of the mouth
  • Thickened nuchal skin fold
  • Acute leukemia
  • High anterior hairline
  • Curly hair
  • Abnormality of the testis
  • Abnormality of the helix

And 146 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to A2ML1 gene

Here you will find a list of rare diseases related to the A2ML1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


NOONAN SYNDROME


Description

Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects.

Most common symptoms of NOONAN SYNDROME

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


More info about NOONAN SYNDROME

SOURCES: ORPHANET

OTITIS MEDIA, SUSCEPTIBILITY TO; OMS


Alternate names

OTITIS MEDIA, SUSCEPTIBILITY TO; OMS Is also known as come/rom, otitis media, chronic/recurrent

Most common symptoms of OTITIS MEDIA, SUSCEPTIBILITY TO; OMS

  • Otitis media
  • Recurrent otitis media


More info about OTITIS MEDIA, SUSCEPTIBILITY TO; OMS

SOURCES: OMIM


Potential gene panels for A2ML1 gene

NGS RASopathy Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS RASopathy Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 CBL SHOC2 KAT6B SPRED1 A2ML1

More info about this panel

Noonan Spectrum Disorders Panel Panel

United States.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital Noonan Spectrum Disorders Panel that also includes the following genes: RIT1 BRAF SOS1 CBL SHOC2 SPRED1 A2ML1 HRAS KRAS MAP2K1

More info about this panel

Rasopathy NextGen Panel Panel

United States.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado Rasopathy NextGen Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 ACTB ACTG1 CBL SHOC2 SPRED1

More info about this panel

Noonan Spectrum Disorders/Rasopathies Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Noonan Spectrum Disorders/Rasopathies Sequencing Panel with CNV Detection that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 SPRY1 CBL SHOC2 KAT6B A2ML1

More info about this panel

Noonan Syndrome via A2ML1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the A2ML1 gene.

More info about this panel

Noonan spectrum disorder Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Noonan spectrum disorder Comprehensive panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 ACTB ACTG1 CBL SHOC2 SPRED1

More info about this panel

Noonan spectrum disorder Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Noonan spectrum disorder Deletion / Duplication panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 ACTB ACTG1 CBL SHOC2 SPRED1

More info about this panel

Noonan spectrum disorder NGS panel Panel

United States.

By Connective Tissue Gene Tests Noonan spectrum disorder NGS panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 ACTB ACTG1 CBL SHOC2 SPRED1

More info about this panel

Hypertrophic cardiomyopathy - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hypertrophic cardiomyopathy - different panels that also includes the following genes: RIT1 MRPL3 RRAS SLC22A5 BRAF SOS1 SOS2 SURF1 TNNI3 TNNT2

More info about this panel

Noonan syndrome - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Noonan syndrome - different panels that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 A2ML1 KRAS LZTR1 MAP2K1 NRAS

More info about this panel

Heart Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Heart Diseases - panels that also includes the following genes: RIT1 RRAS RYR2 SCN4B SCN5A SCO2 SDHA BMPR2 SGCA SGCB

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

RASopathies Panel Panel

Germany.

By CeGaT GmbH RASopathies Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 CBL SHOC2 CCND2 STAMBP SPRED1 A2ML1

More info about this panel

RASopathies Panel Panel

Germany.

By CeGaT GmbH RASopathies Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 CBL SHOC2 CCND2 STAMBP SPRED1 A2ML1

More info about this panel

RASopathies Panel Panel

Germany.

By CeGaT GmbH RASopathies Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 CBL SHOC2 CCND2 STAMBP SPRED1 A2ML1

More info about this panel

Cardiovascular Diseases_General Panel Panel

Spain.

By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B

More info about this panel

Arrhythmia General Panel Panel

Spain.

By Health in Code Arrhythmia General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SCO2

More info about this panel

Cardiomyopathies General Panel Panel

Spain.

By Health in Code Cardiomyopathies General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN5A SCO2 SDHA SGCA SGCB SGCD

More info about this panel

RASopathies Panel Panel

Spain.

By Health in Code RASopathies Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 SHOC2 SPRED1 A2ML1 HRAS KRAS

More info about this panel

RASOPATHY-RELATED SYNDROME Panel

Spain.

By Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute RASOPATHY-RELATED SYNDROME that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 CBL SHOC2 SPRED1 A2ML1 HRAS

More info about this panel

NOONAN SYNDROME Panel

Spain.

By Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute NOONAN SYNDROME that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 CBL SHOC2 A2ML1 KRAS LZTR1

More info about this panel

Invitae Noonan Syndrome Panel Panel

United States.

By Invitae Invitae Noonan Syndrome Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 CBL SHOC2 A2ML1 KRAS MAP2K1

More info about this panel

Invitae RASopathies Comprehensive Panel Panel

United States.

By Invitae Invitae RASopathies Comprehensive Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 CBL SHOC2 SPRED1 A2ML1 HRAS

More info about this panel

A2ML1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the A2ML1 gene.

More info about this panel

NOONAN & NOONAN-LIKE SYNDROMES : NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL NOONAN & NOONAN-LIKE SYNDROMES : NGS PANEL that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 CBL A2ML1 NSUN2 KRAS LZTR1

More info about this panel

NOONAN-LIKE SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL NOONAN-LIKE SYNDROME that also includes the following genes: RRAS CBL SHOC2 A2ML1 NSUN2 MAP2K2

More info about this panel

Phosphorus Pan Cardiomyopathy Including Recessive Pediatric Syndromes Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan Cardiomyopathy Including Recessive Pediatric Syndromes Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SDHA SGCD SLC22A5 BRAF SOS1 SOS2

More info about this panel

Phosphorus Pan Cardiomyopathy Including Rasopathies Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan Cardiomyopathy Including Rasopathies Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SGCD SLC22A5 BRAF SOS1 SOS2 TAZ

More info about this panel

Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN4B SCN5A SGCD SLC22A5 BRAF SNTA1

More info about this panel

Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN4B SCN5A SDHA SGCD SLC22A5 BRAF

More info about this panel

Phosphorus Pan Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SDHA SGCD SLC22A5 BRAF SOS1 SOS2

More info about this panel

Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 TCAP TNNC1 TNNI3 TNNT2 TPM1

More info about this panel

Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 TCAP TNNC1 TNNI3 TNNT2 TPM1

More info about this panel


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