CEP63 gene related symptoms and diseases
All the information presented here about the CEP63 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CEP63 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Global developmental delay | Very Common - Between 80% and 100% cases |
| Short stature | Very Common - Between 80% and 100% cases |
| Microcephaly | Very Common - Between 80% and 100% cases |
| Delayed speech and language development | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with CEP63 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Seizures
Not very common - Between 30% and 50% cases
- Unilateral renal agenesis
- Spastic tetraplegia
- Heterotopia
- Pachygyria
- Hypergonadotropic hypogonadism
- Abnormal cortical bone morphology
- Chromosome breakage
And 21 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CEP63 gene
Here you will find a list of rare diseases related to the CEP63. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SECKEL SYNDROME 6; SCKL6
Most common symptoms of SECKEL SYNDROME 6; SCKL6
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Microcephaly
More info about SECKEL SYNDROME 6; SCKL6
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
Search interest in CEP63
Potential gene panels for CEP63 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.
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.
Seckel syndrome type 6 (sequence analysis of CEP63 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CEP63 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.
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.
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 CEP63 related Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CEP63 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.
Seckel syndrome 6 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CEP63 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.
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.
Single gene testing CEP63 Panel
Germany.
By CeGaT GmbH
This panel specifically test the CEP63 gene.
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.
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.
CEP63 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CEP63 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.
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.
CEP63 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 CEP63 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.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like CAPN3 COL1A2 PEX19 CRB1 CD96 SALL2 GEN1