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: OMIM,ORPHANET,NCBIGENE,HGNC.

Top 5 symptoms associated to A2ML1 gene



Symptoms // Phenotype % Cases
Short stature Very Common - Between 80% and 100% cases
Melanocytic nevus Very Common - Between 80% and 100% cases
Webbed neck Very Common - Between 80% and 100% cases
Abnormal bleeding Very Common - Between 80% and 100% cases
Wide intermamillary distance Very Common - Between 80% and 100% cases

Other less frequent symptoms

Patients with A2ML1 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases

Thick lower lip vermilion

Not very common - Between 30% and 50% cases

Low posterior hairline

Commonly - More than 50% cases

Lymphedema

Not very common - Between 30% and 50% cases

Hypogonadotrophic hypogonadism

Commonly - More than 50% cases

Abnormal dermatoglyphics

Not very common - Between 30% and 50% cases

Coarse hair

Commonly - More than 50% cases

Radioulnar synostosis

Not very common - Between 30% and 50% cases

Abnormality of coagulation

And 41 more phenotypes.

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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

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Nystagmus
  • Micrognathia


More info about NOONAN SYNDROME

SOURCES: ORPHANET

Potential gene panels for A2ML1 gene

NGS RASopathy Panel Panel

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. NGS RASopathy Panel that also includes the following genes: RAF1 BRAF HRAS KRAS MAP2K1 NRAS PTPN11 SHOC2 SOS1 SOS2

More info about this panel

Comprehensive Cardiac Panel Panel

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. Comprehensive Cardiac Panel that also includes the following genes: TTR AGL ACADVL GAA DSP CRYAB RAF1 MTO1 TMEM70 TAZ

More info about this panel

Rasopathy NextGen Panel Panel

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States. Rasopathy NextGen Panel that also includes the following genes: RAF1 BRAF HRAS KRAS MAP2K1 NRAS PTPN11 SHOC2 SOS1 SOS2

More info about this panel

Noonan Spectrum Disorders/Rasopathies Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics in United States. Noonan Spectrum Disorders/Rasopathies Sequencing Panel with CNV Detection that also includes the following genes: RAF1 BRAF HRAS KRAS MAP2K1 NRAS PTPN11 SHOC2 SOS1 SOS2

More info about this panel

Noonan spectrum disorder Comprehensive panel Panel

By Connective Tissue Gene Tests in United States. Noonan spectrum disorder Comprehensive panel that also includes the following genes: RAF1 BRAF HRAS KRAS MAP2K1 NRAS PTPN11 SHOC2 SOS1 SOS2

More info about this panel

Noonan spectrum disorder Deletion / Duplication panel Panel

By Connective Tissue Gene Tests in United States. Noonan spectrum disorder Deletion / Duplication panel that also includes the following genes: RAF1 BRAF HRAS KRAS MAP2K1 NRAS PTPN11 SHOC2 SOS1 SOS2

More info about this panel

Noonan spectrum disorder NGS panel Panel

By Connective Tissue Gene Tests in United States. Noonan spectrum disorder NGS panel that also includes the following genes: RAF1 BRAF HRAS KRAS MAP2K1 NRAS PTPN11 SHOC2 SOS1 SOS2

More info about this panel

Hypertrophic cardiomyopathy - different panels Panel

By Institute of Human Genetics Cologne University in Germany. Hypertrophic cardiomyopathy - different panels that also includes the following genes: TTR AARS2 ACAD9 AGL ACADVL ATPAF2 GAA GNPTAB GLB1 DLD

More info about this panel

Noonan syndrome - different panels Panel

By Institute of Human Genetics Cologne University in Germany. Noonan syndrome - different panels that also includes the following genes: RAF1 BRAF KRAS MAP2K1 NRAS PTPN11 SOS1 SOS2 RIT1 LZTR1

More info about this panel

Heart Diseases - panels Panel

By MGZ Medical Genetics Center in Germany. Heart Diseases - panels that also includes the following genes: TTR AARS2 ACAD9 ACADM ACADS AGL ACADVL GAA ELN CPT2

More info about this panel

Mental Retardation and Dysmorphology - panels Panel

By MGZ Medical Genetics Center in Germany. Mental Retardation and Dysmorphology - panels that also includes the following genes: FMR1 UBE3A PTEN RECQL4 AGL ATP7A GAA LRP5 SLC37A4 GNPTAB

More info about this panel

Syndromal Diseases - panels Panel

By MGZ Medical Genetics Center in Germany. Syndromal Diseases - panels that also includes the following genes: FMR1 UBE3A PTEN RECQL4 AGL ATP7A GAA LRP5 SLC37A4 GNPTAB

More info about this panel

RASopathies Panel Panel

By CeGaT GmbH in Germany. RASopathies Panel that also includes the following genes: RAF1 BRAF HRAS KRAS MAP2K1 NRAS PTPN11 SHOC2 SOS1 RIT1

More info about this panel

RASopathies Panel Panel

By CeGaT GmbH in Germany. RASopathies Panel that also includes the following genes: RAF1 BRAF HRAS KRAS MAP2K1 NRAS PTPN11 SHOC2 SOS1 RIT1

More info about this panel

RASopathies Panel Panel

By CeGaT GmbH in Germany. RASopathies Panel that also includes the following genes: RAF1 BRAF HRAS KRAS MAP2K1 NRAS PTPN11 SHOC2 SOS1 RIT1

More info about this panel

Cardiovascular Diseases_General Panel Panel

By Health in Code in Spain. Cardiovascular Diseases_General Panel that also includes the following genes: HFE TTR AARS2 ACAD9 AGL ACADVL ATP5F1E ATP7A ATPAF2 B4GALT7

More info about this panel

Arrhythmia General Panel Panel

By Health in Code in Spain. Arrhythmia General Panel that also includes the following genes: HFE TTR AARS2 ACAD9 AGL ACADVL ATP5F1E ATPAF2 GAA ELAC2

More info about this panel

Cardiomyopathies General Panel Panel

By Health in Code in Spain. Cardiomyopathies General Panel that also includes the following genes: HFE TTR AARS2 ACAD9 AGL ACADVL ATP5F1E ATPAF2 GAA ELAC2

More info about this panel

RASopathies Panel Panel

By Health in Code in Spain. RASopathies Panel that also includes the following genes: RAF1 BRAF HRAS KRAS MAP2K1 NRAS PTPN11 SHOC2 SOS1 SOS2

More info about this panel

RASOPATHY-RELATED SYNDROME Panel

By Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute in Spain. RASOPATHY-RELATED SYNDROME that also includes the following genes: RAF1 BRAF HRAS KRAS MAP2K1 NRAS PTPN11 SHOC2 SOS1 SOS2

More info about this panel

NOONAN SYNDROME Panel

By Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute in Spain. NOONAN SYNDROME that also includes the following genes: RAF1 BRAF KRAS MAP2K1 NRAS PTPN11 SHOC2 SOS1 SOS2 RIT1

More info about this panel

Invitae Noonan Syndrome Panel Panel

By Invitae in United States. Invitae Noonan Syndrome Panel that also includes the following genes: RAF1 BRAF KRAS MAP2K1 NRAS PTPN11 SHOC2 SOS1 SOS2 RIT1

More info about this panel

Invitae RASopathies Comprehensive Panel Panel

By Invitae in United States. Invitae RASopathies Comprehensive Panel that also includes the following genes: RAF1 BRAF HRAS KRAS MAP2K1 NRAS PTPN11 SHOC2 SOS1 SOS2

More info about this panel

A2ML1 Panel

By Fulgent Genetics Fulgent Genetics in United States.

This panel specifically test the A2ML1 gene.

More info about this panel

Phosphorus Pan Cardiomyopathy Including Rasopathies Panel Panel

By Phosphorus Diagnostics LLC in United States. Phosphorus Pan Cardiomyopathy Including Rasopathies Panel that also includes the following genes: TTR AGL GAA EYA4 DSP CRYAB RAF1 TAZ SLC22A5 DOLK

More info about this panel

Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies Panel Panel

By Phosphorus Diagnostics LLC in United States. Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies Panel that also includes the following genes: TTR AGL GAA EYA4 DSP CRYAB RAF1 TAZ SLC22A5 DOLK

More info about this panel

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

By Phosphorus Diagnostics LLC in United States. Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel that also includes the following genes: TTR AGL ACADVL GAA ELAC2 EYA4 CPT2 DSP CRYAB RAF1

More info about this panel

Phosphorus Pan Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel Panel

By Phosphorus Diagnostics LLC in United States. Phosphorus Pan Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel that also includes the following genes: TTR AGL ACADVL GAA ELAC2 EYA4 CPT2 DSP CRYAB RAF1

More info about this panel

Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel Panel

By Phosphorus Diagnostics LLC in United States. Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel that also includes the following genes: TTR AGL ACADVL GAA ELAC2 CPT2 RAF1 MTO1 BRAF GLA

More info about this panel

Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies Panel Panel

By Phosphorus Diagnostics LLC in United States. Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies Panel that also includes the following genes: TTR AGL GAA RAF1 BRAF GLA HRAS KRAS MAP2K1 NRAS

More info about this panel


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