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.

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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

SOURCES: OMIM ORPHANET


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

ERCC6L2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ERCC6L2 gene.

More info about this panel

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

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

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


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