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.
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
Search interest in A2ML1
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 United States.
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 United States.
A2ML1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the A2ML1 gene.
More info about this panel United States.
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 Spain.
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 Spain.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like COL25A1 DLX6 ACP5 TMPRSS3