PIK3R2 gene related symptoms and diseases
All the information presented here about the PIK3R2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PIK3R2 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Cortical dysplasia | Very Common - Between 80% and 100% cases |
Abnormal cardiac septum morphology | Very Common - Between 80% and 100% cases |
Polymicrogyria | Very Common - Between 80% and 100% cases |
Postaxial polydactyly | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with PIK3R2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Postaxial hand polydactyly
- Intellectual disability, profound
- Mitral regurgitation
- Pachygyria
- Knee flexion contracture
- Large for gestational age
- Infantile spasms
- Telecanthus
And 37 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PIK3R2 gene
Here you will find a list of rare diseases related to the PIK3R2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MEGALENCEPHALY-POLYMICROGYRIA-POSTAXIAL POLYDACTYLY-HYDROCEPHALUS SYNDROME
Alternate names
MEGALENCEPHALY-POLYMICROGYRIA-POSTAXIAL POLYDACTYLY-HYDROCEPHALUS SYNDROME Is also known as meg-pmg-megacc syndrome, mpph syndrome, megalencephaly, polymicrogyria, mega corpus callosum syndrome, mpph, megalencephaly, mega corpus callosum, and complete lack of motor development
Description
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic.
Most common symptoms of MEGALENCEPHALY-POLYMICROGYRIA-POSTAXIAL POLYDACTYLY-HYDROCEPHALUS SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hypertelorism
More info about MEGALENCEPHALY-POLYMICROGYRIA-POSTAXIAL POLYDACTYLY-HYDROCEPHALUS SYNDROME
Search interest in PIK3R2
Potential gene panels for PIK3R2 gene
Somatic Overgrowth Gene Panel Panel

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine Somatic Overgrowth Gene Panel that also includes the following genes: AKT1 AKT2 AKT3 MTOR GNA11 GNAQ PIK3CA PIK3R2
More info about this panel
Segmental Overgrowth Disorders - NGS panel (8 genes) Panel

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Segmental Overgrowth Disorders - NGS panel (8 genes) that also includes the following genes: TSC1 TSC2 AKT1 AKT3 MTOR PIK3CA PIK3R2 PTEN
More info about this panel
PIK3R2. Complete sequencing Panel

By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PIK3R2 gene.
More info about this panel
Macrocephaly (NGS panel for 16 genes) Panel

By CGC Genetics Macrocephaly (NGS panel for 16 genes) that also includes the following genes: MED12 NSD1 MLC1 HEPACAM DHCR24 EZH2 AKT3 GFAP GPC3 ASPA
More info about this panel
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH, sequence analysis of PIK3R2 gene) Panel

By CGC Genetics
This panel specifically test the PIK3R2 gene.
More info about this panel
Megalencephaly-polymicrogyria and dysplastic megalencephaly (NGS panel of 8 genes) Panel

By CGC Genetics Megalencephaly-polymicrogyria and dysplastic megalencephaly (NGS panel of 8 genes) that also includes the following genes: NPRL3 CCND2 DEPDC5 EZH2 AKT3 MTOR PIK3CA PIK3R2
More info about this panel
Megalencephaly-polymicrogyria and dysplastic megalencephaly (NGS panel of 8 genes) Panel

By CGC Genetics Megalencephaly-polymicrogyria and dysplastic megalencephaly (NGS panel of 8 genes) that also includes the following genes: NPRL3 CCND2 DEPDC5 EZH2 AKT3 MTOR PIK3CA PIK3R2
More info about this panel
Hydrocephalus Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics Hydrocephalus Sequencing Panel with CNV Detection that also includes the following genes: ZIC3 HDAC6 CCND2 CRB2 CCDC88C FLVCR2 WDR81 DNAI1 EML1 AKT3
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Megalencephaly-polymicrogyria-polydactyly-hydrocephalus Comprehensive test Panel

By Connective Tissue Gene Tests Megalencephaly-polymicrogyria-polydactyly-hydrocephalus Comprehensive test that also includes the following genes: CCND2 AKT3 PIK3R2
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Megalencephaly-polymicrogyria-polydactyly-hydrocephalus NGS test Panel

By Connective Tissue Gene Tests Megalencephaly-polymicrogyria-polydactyly-hydrocephalus NGS test that also includes the following genes: CCND2 AKT3 PIK3R2
More info about this panel
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus Deletion / Duplication test Panel

By Connective Tissue Gene Tests Megalencephaly-polymicrogyria-polydactyly-hydrocephalus Deletion / Duplication test that also includes the following genes: CCND2 AKT3 PIK3R2
More info about this panel
Mental retardation - different panels Panel

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
Macrocephaly Panel

By MGZ Medical Genetics Center Macrocephaly that also includes the following genes: SYN1 MED12 TSC1 TSC2 NSD1 CCND2 RAB39B MLC1 BRWD3 CDKN1C
More info about this panel
Mental Retardation and Dysmorphology - panels Panel

By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel
Syndromal Diseases - panels Panel

By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel
Brain Malformations / Neuronal Migration Disorders Panel

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
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Megalencephaly Panel

By MGZ Medical Genetics Center Megalencephaly that also includes the following genes: TSC1 TSC2 CCND2 AKT1 AKT3 PIK3CA PIK3R2 PTEN
More info about this panel
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome Panel

By Centogene AG - the Rare Disease Company
This panel specifically test the PIK3R2 gene.
More info about this panel
AllNeuro panel Panel

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
Neuronal Migration Disorders Panel Panel

By CeGaT GmbH Neuronal Migration Disorders Panel that also includes the following genes: SNAP29 MED12 TUBA8 TUBG1 VLDLR ACTB RXYLT1 DCHS1 RAB18 ACTG1
More info about this panel
RASopathies Panel Panel

By CeGaT GmbH RASopathies Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 CBL SHOC2 CCND2 STAMBP SPRED1 A2ML1
More info about this panel
Macrocephaly Panel Panel

By CeGaT GmbH Macrocephaly Panel that also includes the following genes: MED12 NSD1 MLC1 HEPACAM DHCR24 EZH2 AKT3 GCDH GFAP GPC3
More info about this panel
Neuronal Migration Disorders Panel Panel

By CeGaT GmbH Neuronal Migration Disorders Panel that also includes the following genes: SNAP29 MED12 TUBA8 TUBG1 VLDLR ACTB RXYLT1 DCHS1 RAB18 ACTG1
More info about this panel
Macrocephaly Panel Panel

By CeGaT GmbH Macrocephaly Panel that also includes the following genes: MED12 NSD1 MLC1 HEPACAM DHCR24 EZH2 AKT3 GCDH GFAP GPC3
More info about this panel
RASopathies Panel Panel

By CeGaT GmbH RASopathies Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 CBL SHOC2 CCND2 STAMBP SPRED1 A2ML1
More info about this panel
RASopathies Panel Panel

By CeGaT GmbH RASopathies Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 CBL SHOC2 CCND2 STAMBP SPRED1 A2ML1
More info about this panel
Single gene testing PIK3R2 Panel

By CeGaT GmbH
This panel specifically test the PIK3R2 gene.
More info about this panel
Brain malformations Panel

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
Invitae Overgrowth and Macrocephaly Syndromes Panel Panel

By Invitae Invitae Overgrowth and Macrocephaly Syndromes Panel that also includes the following genes: MED12 NSD1 CDKN1C PHF6 SETD2 SPRED1 CUL4B DIS3L2 DNMT3A EZH2
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NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME Panel

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME that also includes the following genes: RIT1 SHOX BRAF SOS1 SPRY2 SRC CD2AP GAB2 CBL SHOC2
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PIK3R2 Panel

By Fulgent Genetics Fulgent Genetics
This panel specifically test the PIK3R2 gene.
More info about this panel
Macrocephaly / Overgrowth Syndrome Panel Panel

By Blueprint Genetics Macrocephaly / Overgrowth Syndrome Panel that also includes the following genes: SYN1 MED12 TSC1 TSC2 NSD1 CCND2 RAB39B MLC1 BRWD3 CDKN1C
More info about this panel
Neuronal Migration Disorder Panel Panel

By Blueprint Genetics Neuronal Migration Disorder Panel that also includes the following genes: MED12 TUBA8 TUBB2A TUBG1 VLDLR YWHAE ACTB NSDHL RXYLT1 RAB18
More info about this panel
Somatic Overgrowth Gene Set Panel

By Genomics and Pathology Services Washington University in St. Louis Somatic Overgrowth Gene Set that also includes the following genes: SMO TSC1 TSC2 AKT1 AKT2 AKT3 MTOR GNA11 GNAQ IDH1
More info about this panel
Solid Tumor Gene Set Panel

By Genomics and Pathology Services Washington University in St. Louis Solid Tumor Gene Set that also includes the following genes: RIT1 ROS1 RXRA FOXL2 BRAF BRCA1 BRCA2 SMARCA4 SMARCB1 KDM5C
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Gynecologic Tumors Gene Set Panel

By Genomics and Pathology Services Washington University in St. Louis Gynecologic Tumors Gene Set that also includes the following genes: FOXL2 BRAF BRCA1 BRCA2 SMO STK11 MED12 TP53 VHL CCND1
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FoundationOne® Heme Panel

By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1
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NeoTYPE® Discovery Profile for Solid Tumors Panel

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2
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Caris MI TumorSeek 592-Gene NGS Panel Panel

By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panel
Providence Personalized Medicine Panel - Solid Tumor Panel

By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2
More info about this panel
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Type 1 , Sequencing PIK3R2 Gene Panel

By Reference Laboratory Genetics
This panel specifically test the PIK3R2 gene.
More info about this panel
Polymicrogyria , Panel Massive Sequencing (NGS) 10 Genes Panel

By Reference Laboratory Genetics Polymicrogyria , Panel Massive Sequencing (NGS) 10 Genes that also includes the following genes: TUBA8 FIG4 TUBA1A TUBB3 SRPX2 TUBB2B AKT3 ADGRG1 OCLN PIK3R2
More info about this panel
Macrocephaly , Panel Massive Sequencing (NGS) 16 Genes Panel

By Reference Laboratory Genetics Macrocephaly , Panel Massive Sequencing (NGS) 16 Genes that also includes the following genes: MED12 NSD1 MLC1 HEPACAM DHCR24 EZH2 AKT3 GFAP GPC3 ASPA
More info about this panel
Malformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes Panel

By Reference Laboratory Genetics Malformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes that also includes the following genes: TUBA8 VLDLR ACTB ACTG1 CASK ARFGEF2 NDE1 FKRP ARX ASPM
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Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 Panel

By Labor Dr. Wisplinghoff
This panel specifically test the PIK3R2 gene.
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152 Integrated Advantage NGS Solid Tumor Panel Panel

By Integrated Molecular Diagnostics Pathology, Inc. 152 Integrated Advantage NGS Solid Tumor Panel that also includes the following genes: ROS1 RRM1 SLCO1B1 BRAF BRCA1 SLC29A1 BRCA2 SMO SPARC SRC
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Tempus xT assay Panel

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
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Tempus xO assay Panel

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
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Megalencephaly-Postaxial Polydactyly-Polymicrogyria-Hydrocephalus Syndrome (MPPH Syndrome): gene sequencing panel Panel

By CEN4GEN Institute for Genomics and Molecular Diagnostics Megalencephaly-Postaxial Polydactyly-Polymicrogyria-Hydrocephalus Syndrome (MPPH Syndrome): gene sequencing panel that also includes the following genes: CCND2 AKT3 PIK3R2
More info about this panel
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