ERCC6L2 gene related symptoms and diseases
All the information presented here about the ERCC6L2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ERCC6L2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Microcephaly | Very Common - Between 80% and 100% cases |
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Narrow nose | Uncommon - Between 30% and 50% cases |
| Supernumerary ribs | Uncommon - Between 30% and 50% cases |
| Ectopic calcification | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with ERCC6L2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Medulloblastoma
- Astrocytoma
- Brain neoplasm
- Ulcerative colitis
- Broad face
- Neoplasm of the endocrine system
- Abnormality of the neck
- Short 4th metacarpal
And 120 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ERCC6L2 gene
Here you will find a list of rare diseases related to the ERCC6L2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BASAL CELL NEVUS SYNDROME; BCNS
Alternate names
BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome, gorlin-goltz syndrome, gorlin syndrome, nbccs, multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies
Most common symptoms of BASAL CELL NEVUS SYNDROME; BCNS
- Intellectual disability
- Hearing impairment
- Microcephaly
- Scoliosis
- Ataxia
More info about BASAL CELL NEVUS SYNDROME; BCNS
SOURCES: OMIM
PANCYTOPENIA-DEVELOPMENTAL DELAY SYNDROME
Alternate names
PANCYTOPENIA-DEVELOPMENTAL DELAY SYNDROME Is also known as trilineage bone marrow failure-developmental delay syndrome
Description
Pancytopenia-developmental delay syndrome is a rare, genetic, hematologic disorder characterized by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities, and microcephaly. Mild facial dysmorphism and hypotonia have also been reported.
Most common symptoms of PANCYTOPENIA-DEVELOPMENTAL DELAY SYNDROME
- Generalized hypotonia
- Microcephaly
- Anemia
- Thrombocytopenia
- Neonatal hypotonia
More info about PANCYTOPENIA-DEVELOPMENTAL DELAY SYNDROME
Search interest in ERCC6L2
Potential gene panels for ERCC6L2 gene
Bone marrow failure syndrome type 2 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ERCC6L2 gene.
More info about this panel Germany.
ERCC6L2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ERCC6L2 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.
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.
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