CENPF gene related symptoms and diseases
All the information presented here about the CENPF gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CENPF gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Sclerocornea | Uncommon - Between 30% and 50% cases |
| Intestinal malrotation | Uncommon - Between 30% and 50% cases |
| Prominent nose | Uncommon - Between 30% and 50% cases |
| Cerebellar vermis hypoplasia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with CENPF gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Renal hypoplasia
- Short palpebral fissure
- Optic nerve hypoplasia
- Preaxial polydactyly
- Short columella
- Duodenal atresia
- Iris coloboma
- Ectopia pupillae
And 33 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CENPF gene
Here you will find a list of rare diseases related to the CENPF. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
STROMME SYNDROME
Alternate names
STROMME SYNDROME Is also known as apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome, jejunal atresia-microcephaly-ocular anomalies syndrome
More info about STROMME SYNDROME
SOURCES: ORPHANET
LETHAL FETAL BRAIN MALFORMATION-DUODENAL ATRESIA-BILATERAL RENAL HYPOPLASIA SYNDROME
STROMME SYNDROME; STROMS
Alternate names
STROMME SYNDROME; STROMS Is also known as jejunal atresia with microcephaly and ocular anomalies, apple peel syndrome with microcephaly and ocular anomalies, ciliary dyskinesia, primary, 31, formerly, cild31, formerly
Description
Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).
Most common symptoms of STROMME SYNDROME; STROMS
- Intellectual disability
- Microcephaly
- Hypertelorism
- Micrognathia
- Cleft palate
More info about STROMME SYNDROME; STROMS
Search interest in CENPF
Potential gene panels for CENPF gene
Comprehensive Pulmonary Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Comprehensive Pulmonary Panel that also includes the following genes: RPGR SCNN1A SCNN1B SCNN1G BMPR1B BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC
More info about this panel United States.
Primary Ciliary Dyskinesia and Cystic Fibrosis Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Primary Ciliary Dyskinesia and Cystic Fibrosis Panel that also includes the following genes: RPGR SCNN1A SCNN1B SCNN1G SPAG1 RSPH1 CFAP298 NME8 LRRC6 INVS
More info about this panel United States.
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.
Primary Ciliary Dyskinesia Panel Panel
Germany.
By CeGaT GmbH Primary Ciliary Dyskinesia Panel that also includes the following genes: RPGR SPAG1 RSPH1 CFAP298 NME8 LRRC6 CENPF CCNO DNAI2 HYDIN
More info about this panel Germany.
CENPF Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CENPF gene.
More info about this panel United States.
Microcephaly and Pontocerebellar Hypoplasia Panel Panel
Finland.
By Blueprint Genetics Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: STIL PLK4 VRK1 XRCC4 GFM1 CASK PCNT TUBGCP4 STAMBP CENPJ
More info about this panel Finland.
Primary Ciliary Dyskinesia Panel Panel
Finland.
By Blueprint Genetics Primary Ciliary Dyskinesia Panel that also includes the following genes: RPGR SPAG1 RSPH1 CFAP298 NME8 LRRC6 INVS CENPF CCNO DNAI2
More info about this panel Finland.
Ciliopathy Panel Panel
Finland.
By Blueprint Genetics Ciliopathy Panel that also includes the following genes: SDCCAG8 CEP41 CFAP410 USP9X ZIC3 ARL6 NEK8 IFT122 IFT81 TMEM237
More info about this panel Finland.
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