CENPE gene related symptoms and diseases
All the information presented here about the CENPE gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CENPE gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Microcephaly | Very Common - Between 80% and 100% cases |
| Short stature | Very Common - Between 80% and 100% cases |
| Micrognathia | Very Common - Between 80% and 100% cases |
| Intrauterine growth retardation | Very Common - Between 80% and 100% cases |
| Craniosynostosis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with CENPE gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Intellectual disability
- Severe short stature
- Abnormal facial shape
- Spasticity
- Cardiomyopathy
- Absent speech
- Pneumonia
- Cerebellar hypoplasia
And 34 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CENPE gene
Here you will find a list of rare diseases related to the CENPE. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SECKEL SYNDROME
Description
Seckel syndrome is a type of microcephalic primordial dwarfism that is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.
Most common symptoms of SECKEL SYNDROME
- Intellectual disability
- Short stature
- Microcephaly
- Scoliosis
- Micrognathia
More info about SECKEL SYNDROME
SOURCES: ORPHANET
MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13
Most common symptoms of MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13
- Seizures
- Global developmental delay
- Short stature
- Microcephaly
- Growth delay
More info about MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13
SOURCES: OMIM
Search interest in CENPE
Potential gene panels for CENPE gene
Autosomal Recessive Primary Microcephaly Tier 2 panel Panel
United States.
By Genetic Services Laboratory University of Chicago Autosomal Recessive Primary Microcephaly Tier 2 panel that also includes the following genes: STIL SLC25A19 ZNF335 ARFGEF2 STAMBP CENPJ NDE1 CDK6 CENPE CENPF
More info about this panel United States.
Microcephaly Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Microcephaly Sequencing Panel that also includes the following genes: STIL SLC2A1 SLC9A6 PLK4 CDKL5 TCF4 UBE3A WWOX RAB18 CRIPT
More info about this panel United States.
Microcephaly Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Microcephaly Deletion/Duplication Panel that also includes the following genes: STIL SLC1A4 SLC2A1 SLC9A6 SOX11 PLK4 CDKL5 TCF4 UBE3A USP18
More info about this panel United States.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
Microcephaly, autosomal recessive type 13 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CENPE gene.
More info about this panel Germany.
CENPE Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CENPE gene.
More info about this panel United States.
SYNDROME DE SECKEL: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL SYNDROME DE SECKEL: NGS PANEL that also includes the following genes: PLK4 NIN PCNT CENPJ CENPE CEP63 CEP152 ATRIP ATR RBBP8
More info about this panel Spain.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
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