CDKN1C gene related symptoms and diseases
All the information presented here about the CDKN1C gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CDKN1C gene
Symptoms // Phenotype | % Cases |
---|---|
Intrauterine growth retardation | Common - Between 50% and 80% cases |
Cleft palate | Common - Between 50% and 80% cases |
Cryptorchidism | Common - Between 50% and 80% cases |
Global developmental delay | Uncommon - Between 30% and 50% cases |
Nevus flammeus | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with CDKN1C gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Nephrocalcinosis
- Abnormality of the kidney
- Hypercalciuria
- Neonatal hypoglycemia
- Diastasis recti
- Hypoglycemia
- Coarse facial features
- Umbilical hernia
And 153 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CDKN1C gene
Here you will find a list of rare diseases related to the CDKN1C. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
IMAGE SYNDROME
Alternate names
IMAGE SYNDROME Is also known as intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome, image syndrome
Description
IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.
Most common symptoms of IMAGE SYNDROME
- Global developmental delay
- Hearing impairment
- Scoliosis
- Growth delay
- Sensorineural hearing impairment
More info about IMAGE SYNDROME
BECKWITH-WIEDEMANN SYNDROME; BWS
Alternate names
BECKWITH-WIEDEMANN SYNDROME; BWS Is also known as emg syndrome, exomphalos-macroglossia-gigantism syndrome, wiedemann-beckwith syndrome, wbs
Description
Beckwith-Wiedemann syndrome is a pediatric overgrowth disorder involving a predisposition to tumor development. The clinical presentation is highly variable; some cases lack the hallmark features of exomphalos, macroglossia, and gigantism as originally described by Beckwith (1969) and Wiedemann (1969) (summary by Weksberg et al., 2010).Mussa et al. (2016) provided a review of Beckwith-Wiedemann syndrome, including the wide spectrum of phenotypic manifestations, delineation of the frequencies of manifestations according to genotype, and discussion of the molecular and epigenetic defects that underlie the disorder.
Most common symptoms of BECKWITH-WIEDEMANN SYNDROME; BWS
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
- Hypertelorism
More info about BECKWITH-WIEDEMANN SYNDROME; BWS
SOURCES: OMIM
BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION
Most common symptoms of BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION
- Strabismus
- Cleft palate
- Cryptorchidism
- Hepatomegaly
- Ventricular septal defect
More info about BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION
SOURCES: ORPHANET
SILVER-RUSSELL SYNDROME DUE TO A POINT MUTATION
INTRAUTERINE GROWTH RESTRICTION-SHORT STATURE-EARLY ADULT-ONSET DIABETES SYNDROME
Most common symptoms of INTRAUTERINE GROWTH RESTRICTION-SHORT STATURE-EARLY ADULT-ONSET DIABETES SYNDROME
- Short stature
- Intrauterine growth retardation
- Decreased testicular size
More info about INTRAUTERINE GROWTH RESTRICTION-SHORT STATURE-EARLY ADULT-ONSET DIABETES SYNDROME
SOURCES: ORPHANET
Search interest in CDKN1C
Potential gene panels for CDKN1C gene
Hereditary Renal Cancer Panel Panel
By Baylor Miraca Genetics Laboratories Hereditary Renal Cancer Panel that also includes the following genes: SDHA SDHB SDHC SDHD VHL WT1 CDKN1C SDHAF2 FLCN FH
More info about this panelComprehensive Hereditary Cancer Panel Panel
By Baylor Miraca Genetics Laboratories Comprehensive Hereditary Cancer Panel that also includes the following genes: RUNX1 SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 STK11 EPCAM
More info about this panelNGS Overgrowth/Macrocephaly Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Overgrowth/Macrocephaly Panel that also includes the following genes: MED12 NSD1 CDKN1C PHF6 UPF3B RNF135 CUL4B DNMT3A EZH2 GLI3
More info about this panelBeckwith-Wiedemann Syndrome (CDKN1C) Sequencing Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
This panel specifically test the CDKN1C gene.
More info about this panelChacot-Marie-Tooth Disease, Type 1A MLPA Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
This panel specifically test the CDKN1C gene.
More info about this panelTest for Beckwith-Wiedemann Syndrome Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht Test for Beckwith-Wiedemann Syndrome that also includes the following genes: CDKN1C H19 KCNQ1OT1
More info about this panelHearing Loss Panel Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Hearing Loss Panel that also includes the following genes: RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10 BTD
More info about this panelBeckwith-Wiedemann Syndrome Panel
By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet
This panel specifically test the CDKN1C gene.
More info about this panelIMAGe Syndrome Panel
By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine
This panel specifically test the CDKN1C gene.
More info about this panelBeckwith-Wiedemann Syndrome (CDKN1C Analysis) Panel
By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine
This panel specifically test the CDKN1C gene.
More info about this panelNeonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel that also includes the following genes: BLK SLC2A2 STAT3 KLF11 WFS1 ZBTB20 NEUROG3 LRBA CDKN1C CEL
More info about this panelNeonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel Panel
By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel that also includes the following genes: BLK SLC2A2 STAT3 KLF11 WFS1 ZBTB20 NEUROG3 LRBA CDKN1C CEL
More info about this panelAbnormal/Ambiguous Genitalia Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Abnormal/Ambiguous Genitalia Sequencing Panel that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOX9 SRD5A2 SRY STAR TBX15 CEP41
More info about this panelCDKN1C sequencing Panel
By Genetic Services Laboratory University of Chicago
This panel specifically test the CDKN1C gene.
More info about this panelHypospadias Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Hypospadias Sequencing Panel that also includes the following genes: SALL1 BMP4 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4 ZEB2
More info about this panelCDKN1C mutation analysis Panel
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the CDKN1C gene.
More info about this panelCDKN1C. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CDKN1C gene.
More info about this panelCHOP Comprehensive Hereditary Cancer Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Comprehensive Hereditary Cancer Panel that also includes the following genes: RMRP RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SH2D1A SLC25A13
More info about this panelHereditary Kidney Cancer Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Hereditary Kidney Cancer Panel that also includes the following genes: SDHA SDHB SDHC SDHD SMARCB1 TSC1 TSC2 VHL WT1 CDC73
More info about this panelSyndromic deafness (NGS panel for 62 genes) Panel
By CGC Genetics Syndromic deafness (NGS panel for 62 genes) that also includes the following genes: SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 TCOF1 TFAP2A TIMM8A TYR
More info about this panelSyndromic and non syndromic deafness (NGS panel for 127 genes) Panel
By CGC Genetics Syndromic and non syndromic deafness (NGS panel for 127 genes) that also includes the following genes: SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SNAI2 SMPX SOX10 TCOF1 TECTA
More info about this panelBeckwith-Wiedemann syndrome (sequence analysis of CDKN1C gene) Panel
By CGC Genetics
This panel specifically test the CDKN1C gene.
More info about this panelOncoRisk (NGS panel for 48 genes) Panel
By CGC Genetics OncoRisk (NGS panel for 48 genes) that also includes the following genes: SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 VHL
More info about this panelOncoRisk Plus (NGS panel for 89 genes) Panel
By CGC Genetics OncoRisk Plus (NGS panel for 89 genes) that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11
More info about this panelCancer Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Cancer Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4
More info about this panelBeckwith-Wiedemann Syndrome via CDKN1C Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the CDKN1C gene.
More info about this panelHypospadias Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Hypospadias Sequencing Panel with CNV Detection that also includes the following genes: SALL1 BMP4 BMP7 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4
More info about this panelDisorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1
More info about this panelDisorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A BMP7 FOXL2 SOS1 SOX10 SOX2
More info about this panelAmbiguous Genitalia Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Ambiguous Genitalia Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOS1 SOX10 SOX2 SOX3 SOX9 SRD5A2
More info about this panelMacrocephaly 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 panelIMAGe Syndrome Panel
By MGZ Medical Genetics Center
This panel specifically test the CDKN1C gene.
More info about this panelBeckwith-Wiedemann Syndrome Panel
By MGZ Medical Genetics Center
This panel specifically test the CDKN1C gene.
More info about this panelRussell-Silver Syndrome Panel
By MGZ Medical Genetics Center
This panel specifically test the CDKN1C gene.
More info about this panelMental 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 panelHereditary Cancer Syndromes - panels Panel
By MGZ Medical Genetics Center Hereditary Cancer Syndromes - panels that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11
More info about this panelSyndromal 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 panelBrain 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
More info about this panelBeckwith-Wiedemann Syndrome Panel
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the CDKN1C gene.
More info about this panelMetaphyseal dysplasia panel Panel
By Centogene AG - the Rare Disease Company Metaphyseal dysplasia panel that also includes the following genes: RMRP RUNX2 ANKH CDKN1C FLNA MMP13 MMP9 NKX3-2
More info about this panelBeckwith-Wiedemann syndrome Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the CDKN1C gene.
More info about this panelIMAGE syndrome Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the CDKN1C gene.
More info about this panelBeckwith-Wiedemann Syndrome Panel
By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the CDKN1C gene.
More info about this panelSyndromic Hearing Loss Panel Panel
By CeGaT GmbH Syndromic Hearing Loss Panel that also includes the following genes: SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 TCOF1 TFAP2A TIMM8A TYR
More info about this panelSelected Genetic Syndromes with skeletal involvement Panel Panel
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 panelBeckwith-Wiedemann Syndrome,CDKN1C Panel
By GGA - Galil Genetic Analysis
This panel specifically test the CDKN1C gene.
More info about this panelCYCLIN-DEPENDENT KINASE INHIBITOR 1C (CDKN1C) Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the CDKN1C gene.
More info about this panelCancer Predisposition Panel
By Asper Biogene Asper Biogene LLC Cancer Predisposition that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1
More info about this panelBeckwith-Wiedemann syndrome Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the CDKN1C gene.
More info about this panelIMAGE syndrome Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the CDKN1C gene.
More info about this panelBeckwith-Wiedemann syndrome Panel
By MedGene
This panel specifically test the CDKN1C gene.
More info about this panelIMAGE syndrome Panel
By MedGene
This panel specifically test the CDKN1C gene.
More info about this panelInvitae Sarcoma Panel Panel
By Invitae Invitae Sarcoma Panel that also includes the following genes: BLM SDHA SDHB SDHC SDHD EPCAM TP53 WRN SUFU DICER1
More info about this panelInvitae Multi-Cancer Panel Panel
By Invitae Invitae Multi-Cancer Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4
More info about this panelInvitae Renal/Urinary Tract Cancers Panel Panel
By Invitae Invitae Renal/Urinary Tract Cancers Panel that also includes the following genes: SDHB SDHC SMARCA4 SMARCB1 EPCAM TP53 TSC1 TSC2 VHL WT1
More info about this panelInvitae Wilms Tumor Panel Panel
By Invitae Invitae Wilms Tumor Panel that also includes the following genes: WT1 CDKN1C DIS3L2 GPC3
More info about this panelInvitae Pediatric Solid Tumors Panel Panel
By Invitae Invitae Pediatric Solid Tumors Panel that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A SMARCA4 SMARCB1 SMARCE1 STK11
More info about this panelInvitae 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
More info about this panelBeckwith-Wiedemann syndrome Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Beckwith-Wiedemann syndrome that also includes the following genes: CDKN1C H19 KCNQ1OT1
More info about this panelRussell-Silver syndrome: Methylation detection and deletions-duplications analysis (MLPA) (KvDMR / H19DMR domains) Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Russell-Silver syndrome: Methylation detection and deletions-duplications analysis (MLPA) (KvDMR / H19DMR domains) that also includes the following genes: CDKN1C H19 IGF2 KCNQ1 KCNQ1OT1
More info about this panelBeckwith-Wiedemann syndrome: CDKN1C gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the CDKN1C gene.
More info about this panelDisproportionate Short Stature: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Sequencing Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TBX6 TRIP11
More info about this panelSkeletal Dysplasia: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2
More info about this panelHereditary Cancer Syndrome: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Cancer Syndrome: Sequencing Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1 STK11
More info about this panelRenal Cancer: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Renal Cancer: Sequencing Panel that also includes the following genes: SDHB SDHD VHL WT1 CDKN1C PALB2 FLCN FH GPC3 MET
More info about this panelDisproportionate Short Stature: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Deletion/Duplication Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TRIP11 TRPS1
More info about this panelHereditary Cancer Syndrome: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Cancer Syndrome: Deletion/Duplication Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11 BUB1B
More info about this panelIntellectual Disability NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panelSkeletal Dysplasias NGS panel Panel
By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1
More info about this panelCDKN1C Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CDKN1C gene.
More info about this panelComprehensive Cancer Panel Panel
By Fulgent Genetics Fulgent Genetics Comprehensive Cancer Panel that also includes the following genes: ROBO2 RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2
More info about this panelSarcoma Comprehensive Panel Panel
By Fulgent Genetics Fulgent Genetics Sarcoma Comprehensive Panel that also includes the following genes: BLM SDHA SDHB SDHC SDHD EPCAM TP53 WRN SUFU DICER1
More info about this panelRenal / Urinary Cancer Comprehensive Panel Panel
By Fulgent Genetics Fulgent Genetics Renal / Urinary Cancer Comprehensive Panel that also includes the following genes: SDHA SDHB SDHC SDHD SMARCA4 SMARCB1 EPCAM TP53 TSC1 TSC2
More info about this panelComprehensive Hearing Loss and Deafness Panel Panel
By Blueprint Genetics Comprehensive Hearing Loss and Deafness Panel that also includes the following genes: BCS1L RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10
More info about this panelHereditary Pediatric Cancer Panel Panel
By Blueprint Genetics Hereditary Pediatric Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF
More info about this panelComprehensive Hereditary Cancer Panel Panel
By Blueprint Genetics Comprehensive Hereditary Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF
More info about this panelSyndromic Hearing Loss Panel Panel
By Blueprint Genetics Syndromic Hearing Loss Panel that also includes the following genes: BCS1L SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 BTD TWNK
More info about this panelMacrocephaly / 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 panelHereditary Renal Cancer Panel Panel
By Blueprint Genetics Hereditary Renal Cancer Panel that also includes the following genes: SDHB SDHC SDHD SMARCA4 SMARCB1 EPCAM TP53 TSC1 TSC2 VHL
More info about this panelMetaphyseal Dysplasia Panel Panel
By Blueprint Genetics Metaphyseal Dysplasia Panel that also includes the following genes: RMRP RUNX2 ANKH CDKN1C SBDS COL10A1 FGFR3 FLNA MMP13 MMP9
More info about this panelSkeletal Dysplasias Core Panel Panel
By Blueprint Genetics Skeletal Dysplasias Core Panel that also includes the following genes: RMRP ROR2 RUNX2 BMP1 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TCIRG1
More info about this panelComprehensive Skeletal Dysplasias and Disorders Panel Panel
By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX
More info about this panelAbnormal Genitalia/ Disorders of Sex Development Panel Panel
By Blueprint Genetics Abnormal Genitalia/ Disorders of Sex Development Panel that also includes the following genes: SOX9 SRD5A2 SRY STAR TACR3 CEP41 WT1 PROKR2 ZFPM2 FIG4
More info about this panelComprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
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 panelBeckwith-Wiedemann syndrome Panel
By Bioarray
This panel specifically test the CDKN1C gene.
More info about this panelBeckwith-Wiedemann syndrome Panel
By Bioarray
This panel specifically test the CDKN1C gene.
More info about this panelBeckwith-Wiedemann syndrome Panel
By Bioarray
This panel specifically test the CDKN1C gene.
More info about this panelSilver-Russell syndrome Panel
By Bioarray
This panel specifically test the CDKN1C gene.
More info about this panelOvergrowth and Intellectual Disability NGS and Deletion/Duplication panel Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Overgrowth and Intellectual Disability NGS and Deletion/Duplication panel that also includes the following genes: NSD1 CDKN1C TMCO1 SETD2 RNF135 DIS3L2 DNMT3A EZH2 GPC3 NFIX
More info about this panelCDKN1C Gene Sequencing and Deletion/Duplication Analysis Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the CDKN1C gene.
More info about this panelBECKWITH-WIEDEMANN SYNDROME Panel
By Laboratorio de Genetica Clinica SL BECKWITH-WIEDEMANN SYNDROME that also includes the following genes: CDKN1C H19 KCNQ1OT1
More info about this panelBeckwith-Wiedemann Syndrome , Sequencing CDKN1C Gene Panel
By Reference Laboratory Genetics
This panel specifically test the CDKN1C gene.
More info about this panelOncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes Panel
By Reference Laboratory Genetics Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11
More info about this panelBeckwith-Wiedemann Syndrome , Panel Massive Sequencing (NGS) 4 Genes Panel
By Reference Laboratory Genetics Beckwith-Wiedemann Syndrome , Panel Massive Sequencing (NGS) 4 Genes that also includes the following genes: NSD1 CDKN1C H19 KCNQ1OT1
More info about this panelHereditary Sarcoma (Susceptibility to) , Panel Massive Sequencing (NGS) 25 Genes Panel
By Reference Laboratory Genetics Hereditary Sarcoma (Susceptibility to) , Panel Massive Sequencing (NGS) 25 Genes that also includes the following genes: BLM SDHB SDHC SDHD EPCAM TP53 WRN SUFU DICER1 CDKN1C
More info about this panelPhosphorus Renal/Urinary Tract Cancer Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Renal/Urinary Tract Cancer Panel that also includes the following genes: SDHA SDHB SDHC SDHD SMARCA4 SMARCB1 EPCAM TP53 TSC1 TSC2
More info about this panelPhosphorus Pan-Cancer Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Pan-Cancer Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4
More info about this panelPhosphorus Pediatric Cancers Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Pediatric Cancers Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SMARCB1 STK11 EPCAM
More info about this panelTempus 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
More info about this panelTempus 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
More info about this panelWilms Tumor: Gene Deletion/Duplication Panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Wilms Tumor: Gene Deletion/Duplication Panel that also includes the following genes: WT1 CDKN1C
More info about this panelRenal Cancer: Gene Sequencing Panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Renal Cancer: Gene Sequencing Panel that also includes the following genes: SDHB SDHC SDHD SMARCB1 BUB1B TP53 TSC1 TSC2 VHL WT1
More info about this panelRenal Cancer: Gene Deletion/Duplication Panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Renal Cancer: Gene Deletion/Duplication Panel that also includes the following genes: SDHB SDHC SDHD SMARCB1 BUB1B TP53 TSC1 TSC2 VHL WT1
More info about this panelWilms Tumor: Sequencing Panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Wilms Tumor: Sequencing Panel that also includes the following genes: WT1 CDKN1C
More info about this panelHereditary Cancer Syndrome: Gene Sequencing Panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Cancer Syndrome: Gene Sequencing Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1 STK11
More info about this panelHereditary Cancer Syndrome: Gene Deletion/Duplication Panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Cancer Syndrome: Gene Deletion/Duplication Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11 BUB1B
More info about this panelIMAGe Syndrome: gene sequencing Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the CDKN1C gene.
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