CEP152 gene related symptoms and diseases
All the information presented here about the CEP152 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CEP152 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Microcephaly | Very Common - Between 80% and 100% cases |
| Short stature | Common - Between 50% and 80% cases |
| Micrognathia | Common - Between 50% and 80% cases |
| Craniosynostosis | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with CEP152 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Sloping forehead
- Global developmental delay
- Convex nasal ridge
- Seizures
- Clinodactyly of the 5th finger
- Cognitive impairment
- Delayed skeletal maturation
- Downslanted palpebral fissures
And 65 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CEP152 gene
Here you will find a list of rare diseases related to the CEP152. 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
SECKEL SYNDROME 5; SCKL5
Description
Seckel syndrome is an autosomal recessive disorder characterized by proportionate short stature, severe microcephaly, mental retardation, and a typical 'bird-head' facial appearance (summary by Kalay et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see {210600}.
Most common symptoms of SECKEL SYNDROME 5; SCKL5
- Intellectual disability
- Short stature
- Microcephaly
- Micrognathia
- Strabismus
More info about SECKEL SYNDROME 5; SCKL5
SOURCES: OMIM
AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY
Alternate names
AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY Is also known as mcph, premature chromosome condensation with microcephaly and mental retardation, pcc syndrome, true microcephaly, premature chromosome condensation syndrome, microcephalia vera, microcephaly vera
Description
Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.
Most common symptoms of AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Microcephaly
More info about AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY
MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE; MCPH9
Description
Primary microcephaly (MCPH) is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations below the age- and sex-matched population mean and mental retardation, with no other associated malformations and with no apparent etiology. Most cases of primary microcephaly show an autosomal recessive mode of inheritance (Woods et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).
Most common symptoms of MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE; MCPH9
- Intellectual disability
- Seizures
- Global developmental delay
- Microcephaly
- Cognitive impairment
More info about MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE; MCPH9
SOURCES: OMIM
Search interest in CEP152
Potential gene panels for CEP152 gene
NGS Epilepsy/Seizure Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Epilepsy/Seizure Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
More info about this panel United States.
Comprehensive Brain Malformation Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Brain Malformation Panel that also includes the following genes: SHH STIL SIX3 SLC9A6 SOX2 CDKL5 TGIF1 MED12 CEP41 TUBA8
More info about this panel United States.
Microcephaly Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Microcephaly that also includes the following genes: STIL SLC9A6 CDKL5 TCF4 UBE3A RAB18 SLC25A19 ZEB2 CASK PCNT
More info about this panel United States.
CEP152 sequencing Panel
United States.
By Genetic Services Laboratory University of Chicago
This panel specifically test the CEP152 gene.
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.
Seckel Syndrome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Seckel Syndrome Panel that also includes the following genes: NIN PCNT CENPJ CEP63 CEP152 DNA2 TRAIP LIG4 ATR RBBP8
More info about this panel United States.
Comprehensive Primordial Dwarfism Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Comprehensive Primordial Dwarfism Panel that also includes the following genes: PLK4 XRCC4 CRIPT PCNT ORC6 CENPJ CDC6 GMNN RTTN CDK5RAP2
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.
CEP152 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the CEP152 gene.
More info about this panel Germany.
Microcephaly 9, primary, AR (sequence analysis of CEP152 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CEP152 gene.
More info about this panel Portugal.
Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) Panel
Portugal.
By CGC Genetics Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) that also includes the following genes: STIL BUB1B TUBG1 VRK1 SLC25A19 NIN CASK TSEN34 ZNF335 PCNT
More info about this panel Portugal.
Primary Microcephaly, Autosomal Recessive, Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Primary Microcephaly, Autosomal Recessive, Sequencing Panel with CNV Detection that also includes the following genes: STIL CENPJ CDK5RAP2 ASPM CIT KNL1 WDR62 CEP135 CEP152 MCPH1
More info about this panel United States.
Primary Microcephaly, Autosomal Recessive, via CEP152 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the CEP152 gene.
More info about this panel United States.
Microcephalic primordial dwarfism Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Microcephalic primordial dwarfism Comprehensive panel that also includes the following genes: XRCC4 NIN PCNT ORC6 CENPJ CDC45 CDC6 GMNN CDT1 CEP63
More info about this panel United States.
Microcephalic primordial dwarfism Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Microcephalic primordial dwarfism Deletion / Duplication panel that also includes the following genes: XRCC4 NIN PCNT ORC6 CENPJ CDC45 CDC6 GMNN CDT1 CEP63
More info about this panel United States.
Microcephalic primordial dwarfism NGS panel Panel
United States.
By Connective Tissue Gene Tests Microcephalic primordial dwarfism NGS panel that also includes the following genes: XRCC4 NIN PCNT ORC6 CENPJ CDC45 CDC6 GMNN CDT1 CEP63
More info about this panel United States.
Microcephaly Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Microcephaly that also includes the following genes: STIL ZNF335 CENPJ CDK5RAP2 ASPM KNL1 WDR62 CEP63 CEP135 CEP152
More info about this panel Germany.
Seckel Syndrome Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Seckel Syndrome that also includes the following genes: NIN CENPJ CDK5RAP2 CEP152 DNA2 ATRIP ATR RBBP8
More info about this panel Germany.
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.
Neuronal Migration with Microcephaly Panel
Germany.
By MGZ Medical Genetics Center Neuronal Migration with Microcephaly that also includes the following genes: STIL CENPJ CDK5RAP2 ASPM WDR62 CEP152
More info about this panel Germany.
Brain Malformations / Neuronal Migration Disorders Panel
Germany.
By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2
More info about this panel Germany.
Microcephaly, autosomal recessive type 9 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CEP152 gene.
More info about this panel Germany.
Microcephaly, primary, autosomal recessive type 4 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CEP152 gene.
More info about this panel Germany.
Microcephaly panel Panel
Germany.
By Centogene AG - the Rare Disease Company Microcephaly panel that also includes the following genes: MSMO1 STIL SLC25A19 CASK PCNT CENPJ NDE1 TUBGCP6 IER3IP1 CDK5RAP2
More info about this panel Germany.
Microcephaly 4, primary, autosomal recessive Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CEP152 gene.
More info about this panel Germany.
Seckel syndrome 5 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CEP152 gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
CentoICU platinum plus Panel
Germany.
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
New Born testing (CentoICU) Panel
Germany.
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
Microcephaly and Pontocerebellar Hypoplasia Panel Panel
Germany.
By CeGaT GmbH Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: STIL BUB1B TUBG1 VRK1 SLC25A19 NIN CASK TSEN34 ZNF335 PCNT
More info about this panel Germany.
Microcephaly and Pontocerebellar Hypoplasia Panel Panel
Germany.
By CeGaT GmbH Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: STIL BUB1B TUBG1 VRK1 SLC25A19 NIN CASK TSEN34 ZNF335 PCNT
More info about this panel Germany.
Selected Genetic Syndromes with skeletal involvement Panel Panel
Germany.
By CeGaT GmbH Selected Genetic Syndromes with skeletal involvement Panel that also includes the following genes: SALL1 SF3B4 TBCE TBX15 TBX3 TBX5 NIN SALL4 PCNT ORC6
More info about this panel Germany.
Microcephaly Panel
Estonia.
By Asper Biogene Asper Biogene LLC Microcephaly that also includes the following genes: STIL SLC25A19 CASK PCNT CENPJ NDE1 TUBGCP6 IER3IP1 CDK5RAP2 ASPM
More info about this panel Estonia.
Brain malformations Panel
Estonia.
By Asper Biogene Asper Biogene LLC Brain malformations that also includes the following genes: STIL SLC12A6 SNAP29 TCF4 CEP41 TUBB2A TUBG1 VLDLR VRK1 ACTB
More info about this panel Estonia.
Microcephaly, primary, autosomal recessive and Seckel syndrome spectrum disorders Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Microcephaly, primary, autosomal recessive and Seckel syndrome spectrum disorders that also includes the following genes: STIL CENPJ CDK6 CDK5RAP2 ASPM KNL1 WDR62 CEP63 CEP135 CEP152
More info about this panel Spain.
Neurology: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neurology: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL SIX3
More info about this panel United States.
Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A
More info about this panel United States.
Microcephaly NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Microcephaly NGS Panel that also includes the following genes: MSMO1 STIL BUB1B VRK1 SLC25A19 CASK TSEN34 PCNT CENPJ NDE1
More info about this panel United States.
Primordial Dwarfism NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Primordial Dwarfism NGS Panel that also includes the following genes: PCNT ORC6 CENPJ CDC6 CDT1 CEP63 CEP152 RNU4ATAC ORC1 ORC4
More info about this panel United States.
CEP152 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CEP152 gene.
More info about this panel United States.
Comprehensive Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B
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.
Comprehensive Short Stature Syndrome Panel Panel
Finland.
By Blueprint Genetics Comprehensive Short Stature Syndrome Panel that also includes the following genes: RIT1 BCS1L RRAS SHOX BRAF SMC1A SOS1 SOX2 SOX3 STAT5B
More info about this panel Finland.
3-M Syndrome / Primordial Dwarfism Panel Panel
Finland.
By Blueprint Genetics 3-M Syndrome / Primordial Dwarfism Panel that also includes the following genes: BCS1L XRCC4 PCNT SRCAP ORC6 CENPJ CDC45 CDC6 RTTN CUL7
More info about this panel Finland.
Seckel Syndrome Panel Panel
Finland.
By Blueprint Genetics Seckel Syndrome Panel that also includes the following genes: PCNT CENPJ CEP63 CEP152 ATR RBBP8
More info about this panel Finland.
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panel Finland.
Seckel Syndrome NGS and Deletion/Duplication Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Seckel Syndrome NGS and Deletion/Duplication Panel that also includes the following genes: CENPJ CEP63 CEP152 ATR RBBP8
More info about this panel United States.
CEP152 Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the CEP152 gene.
More info about this panel United States.
Microcephaly primary autosomal recessive Panel
Spain.
By Laboratorio de Genetica Clinica SL Microcephaly primary autosomal recessive that also includes the following genes: STIL CENPJ CDK6 CDK5RAP2 ASPM CIT KNL1 WDR62 SASS6 CEP63
More info about this panel Spain.
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.
SECKEL SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL SECKEL SYNDROME that also includes the following genes: PCNT CENPJ CEP63 CEP152 ATRIP ATR RBBP8
More info about this panel Spain.
PRIMARY MICROCEPHALY (AUTOSOMAL RECESSIVE) (VERA MICROCEPHALY) Panel
Spain.
By Laboratorio de Genetica Clinica SL PRIMARY MICROCEPHALY (AUTOSOMAL RECESSIVE) (VERA MICROCEPHALY) that also includes the following genes: STIL CENPJ CDK6 CDK5RAP2 ASPM KNL1 WDR62 SASS6 CEP63 CEP135
More info about this panel Spain.
Seckel Syndrome, Panel Massive Sequencing (NGS) 5 Genes Panel
Spain.
By Reference Laboratory Genetics Seckel Syndrome, Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: CENPJ CEP63 CEP152 ATR RBBP8
More info about this panel Spain.
Primordial Dwarfism and Related Disorders , Panel Massive Sequencing (NGS) 12 Genes Panel
Spain.
By Reference Laboratory Genetics Primordial Dwarfism and Related Disorders , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: PCNT ORC6 CENPJ CDC6 CDT1 CEP63 CEP152 RNU4ATAC ORC1 ORC4
More info about this panel Spain.
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders: gene sequencing panel that also includes the following genes: STIL NIN CENPJ CDK6 CDK5RAP2 ASPM KNL1 WDR62 CEP63 CEP135
More info about this panel Canada.
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