SAMD9L gene related symptoms and diseases
All the information presented here about the SAMD9L gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SAMD9L gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Microcephaly | Very Common - Between 80% and 100% cases |
| Myeloid leukemia | Very Common - Between 80% and 100% cases |
| Telangiectasia | Very Common - Between 80% and 100% cases |
| Clonus | Very Common - Between 80% and 100% cases |
| Bone marrow hypocellularity | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SAMD9L gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Leukopenia
- Incoordination
- Decreased nerve conduction velocity
- Myelodysplasia
- Aplasia/Hypoplasia of the cerebellum
- Ankle clonus
- Acute myeloid leukemia
- Decreased antibody level in blood
And 36 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SAMD9L gene
Here you will find a list of rare diseases related to the SAMD9L. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ATAXIA-PANCYTOPENIA SYNDROME
Alternate names
ATAXIA-PANCYTOPENIA SYNDROME Is also known as myelocerebellar disorder
Description
Ataxia-pancytopenia syndrome is a rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.
Most common symptoms of ATAXIA-PANCYTOPENIA SYNDROME
- Microcephaly
- Scoliosis
- Ataxia
- Nystagmus
- Anemia
More info about ATAXIA-PANCYTOPENIA SYNDROME
Search interest in SAMD9L
Potential gene panels for SAMD9L gene
Inherited Bone Marrow Failure Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Inherited Bone Marrow Failure Sequencing Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7
More info about this panel United States.
Comprehensive Hereditary Cancer Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Comprehensive Hereditary Cancer Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SRP72
More info about this panel United States.
Hereditary Leukemia and Breast Cancer Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Hereditary Leukemia and Breast Cancer Panel that also includes the following genes: RUNX1 BLM BRCA1 BRCA2 SRP72 TERC TERT TP53 IKZF1 SAMD9
More info about this panel United States.
Tier 1: Familial Myelodysplastic Syndrome/Acute Leukemia (MDS/AL) Panel
United States.
By Genetic Services Laboratory University of Chicago Tier 1: Familial Myelodysplastic Syndrome/Acute Leukemia (MDS/AL) that also includes the following genes: RUNX1 SRP72 TERC TERT TP53 IKZF1 SAMD9 SAMD9L RTEL1 CEBPA
More info about this panel United States.
Ataxia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panel United States.
Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7
More info about this panel United States.
Cancer Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Cancer Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4
More info about this panel United States.
Hereditary Myelodysplastic Syndrome (MDS) /Acute Myeloid Leukemia (AML) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hereditary Myelodysplastic Syndrome (MDS) /Acute Myeloid Leukemia (AML) Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 SRP72 TERC TERT TP53 SAMD9L CEBPA DDX41 ANKRD26 ETV6
More info about this panel United States.
SAMD9L Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SAMD9L gene.
More info about this panel United States.
Primary Immunodeficiency Panel Panel
Finland.
By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK
More info about this panel Finland.
Hereditary Leukemia Panel Panel
Finland.
By Blueprint Genetics Hereditary Leukemia Panel that also includes the following genes: RIT1 RUNX1 BLM BRAF BRCA1 BRCA2 SOS1 SRP72 EPCAM TERC
More info about this panel Finland.
Comprehensive Hereditary Cancer Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hereditary Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF
More info about this panel Finland.
Comprehensive Hematology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26
More info about this panel Finland.
Bone Marrow Failure Syndrome Panel Panel
Finland.
By Blueprint Genetics Bone Marrow Failure Syndrome Panel that also includes the following genes: RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29
More info about this panel Finland.
SAMD9L-Related Ataxia-Pancytopenia Syndrome: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the SAMD9L gene.
More info about this panel Canada.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like KCNN4 ZNF335 MT-CYB PDZD7 PIGW TAB2 KRT25