Rothmund-thomson Syndrome; Rts

Description

Rothmund-Thomson syndrome is rare autosomal recessive disorder characterized by skin atrophy, telangiectasia, hyper- and hypopigmentation, congenital skeletal abnormalities, short stature, premature aging, and increased risk of malignant disease (Simon et al., 2010). Genetic Heterogeneity of Rothmund-Thomson SyndromeWang et al. (2003) analyzed the RECQL4 gene in 33 RTS patients and found an absence of RECQL4 mutations in 10 patients. Analysis of a family with an affected sib pair excluded RECQL4 as a recessive locus for RTS in the family, arguing strongly for genetic heterogeneity in RTS.Simon et al. (2010) stated that only 40 to 66% of patients with RTS have been found to have mutation in the RECQL4 gene, indicating genetic heterogeneity.

Clinical Features

Top most frequent phenotypes and symptoms related to Rothmund-thomson Syndrome; Rts

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Micrognathia
  • Strabismus
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract
And another 76 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Rothmund-thomson Syndrome; Rts Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ATP2C1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

ATP2C1
Specificity
100 %
Genes
50 %
ATP2C1 Gene Sequencing.

By GeneDx in United States.

ATP2C1
Specificity
100 %
Genes
50 %
Benign chronic pemphigus Comprehensive Test.

By Connective Tissue Gene Tests in United States.

ATP2C1
Specificity
100 %
Genes
50 %
Benign chronic pemphigus NGS Test.

By Connective Tissue Gene Tests in United States.

ATP2C1
Specificity
100 %
Genes
50 %
Benign chronic pemphigus Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

ATP2C1
Specificity
100 %
Genes
50 %
Ichthyoses and related disorders of cornification Panel.

By CeGaT GmbH in Germany.

ABCA12, ELOVL4, DSP, TAT, ABHD5, ALDH3A2, PHYH, ALMS1, GJB2, GJB6, SUMF1, TGM1, ATP2A2, ERCC2, ERCC3, GJB3, MBTPS2, EBP, NSDHL, CTSC , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
50 %
Single gene testing ATP2C1.

By CeGaT GmbH in Germany.

ATP2C1
Specificity
100 %
Genes
50 %
Hailey–Hailey disease.

By Praxis fuer Humangenetik Wien in Austria.

ATP2C1
Specificity
100 %
Genes
50 %
Hailey–Hailey disease.

By MedGene in Slovakia.

ATP2C1
Specificity
100 %
Genes
50 %
Hailey-Hailey disease: ATP2C1 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

ATP2C1
Specificity
100 %
Genes
50 %
ATP2C1.

By Fulgent Genetics Fulgent Genetics in United States.

ATP2C1
Specificity
100 %
Genes
50 %
Epidermolysis Bullosa Panel.

By Blueprint Genetics in Finland.

KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, DSG2, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CDSN, GRIP1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
50 %
Familial Benign Chronic Pemphigus (Hayley-Hayley Disease) , Sequencing ATP2C1 Gene.

By Reference Laboratory Genetics in Spain.

ATP2C1
Specificity
100 %
Genes
50 %
RECQL4 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

RECQL4
Specificity
100 %
Genes
50 %
RECQL4 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories in United States.

RECQL4
Specificity
100 %
Genes
50 %
RECQL4 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

RECQL4
Specificity
100 %
Genes
50 %
NGS Craniosynostosis Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

RECQL4, FGFR2, FGFR1, RAB23, POR, MSX2, TWIST1
Specificity
15 %
Genes
50 %
Craniosynostosis.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

RECQL4, ALPL, FBN1, FGFR3, FGFR2, FGFR1, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, ALX4, EFNB1, ASXL1, MASP1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
50 %
Craniofacial Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

RECQL4, FAM20C, FGFR3, RUNX2, FGFR2, FGFR1, FLNA, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, ALX4, EFNB1, IFT43 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
50 %
Craniofacial Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

RECQL4, FAM20C, FGFR3, RUNX2, FGFR2, FGFR1, FLNA, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, ALX4, EFNB1, IFT43 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
50 %
RECQL4.

By Institute for Human Genetics University Clinic Freiburg in Germany.

RECQL4
Specificity
100 %
Genes
50 %
Craniosynostosis.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

RECQL4, FGFR3, RUNX2, FGFR2, FGFR1, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, EFNB1, ASXL1, IFT43, IL11RA, IFT122 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
Rothmund Thompson Syndrome.

By Human Genetics University Hospital Bern in Switzerland.

RECQL4
Specificity
100 %
Genes
50 %
RECQL4. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

RECQL4
Specificity
100 %
Genes
50 %
CHOP Comprehensive Hereditary Cancer Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

BRCA1, BRCA2, HFE, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, ABCB11, RB1, SDHAF2, RET, SLC25A13, SDHC, FH , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
50 %
Craniosynostosis Sequence Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

RECQL4, RUNX2, WDR35, RAB23, POR, MSX2, TWIST1, SKI, EFNB1, IFT43, IFT122, SPECC1L, MEGF8, ZIC1, ERF, TCF12, CD96
Specificity
6 %
Genes
50 %
Craniofacial Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

RECQL4, ALPL, EYA1, DHODH, CHD7, RUNX2, PRKAR1A, SALL1, POLR1C, SIX5, TCOF1, SIX1, POLR1D, WDR35, RAB23, POR, MSX2, TWIST1, SKI, GLI3 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
50 %
Craniosynostosis Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

RECQL4, RUNX2, WDR35, RAB23, POR, MSX2, TWIST1, SKI, EFNB1, IFT43, IFT122, SPECC1L, MEGF8, ZIC1, ERF, TCF12, CD96
Specificity
6 %
Genes
50 %
Craniosynostosis Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

RECQL4, RUNX2, WDR35, RAB23, POR, MSX2, TWIST1, SKI, EFNB1, IFT43, IFT122, SPECC1L, MEGF8, ZIC1, ERF, TCF12, CD96
Specificity
6 %
Genes
50 %
Craniofacial Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

RECQL4, ALPL, EYA1, DHODH, CHD7, RUNX2, PRKAR1A, SALL1, POLR1C, SIX5, TCOF1, SIX1, POLR1D, WDR35, RAB23, POR, MSX2, TWIST1, SKI, GLI3 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
50 %
Craniofacial Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

RECQL4, ALPL, EYA1, DHODH, CHD7, RUNX2, PRKAR1A, SALL1, POLR1C, SIX5, TCOF1, SIX1, POLR1D, WDR35, RAB23, POR, MSX2, TWIST1, SKI, GLI3 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
50 %
Rothmund-Thomson syndrome (sequence analysis of RECQL4 gene).

By CGC Genetics in Portugal.

RECQL4
Specificity
100 %
Genes
50 %
Craniosynostosis (NGS panel for 30 genes).

By CGC Genetics in Portugal.

RECQL4, ALPL, FGFR3, FGFR2, FGFR1, WDR35, RAB23, POR, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, IFT140, WDR19, SCARF2, ALX4, EFNB1, MASP1, IL11RA , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
50 %
OncoRisk Plus (NGS panel for 89 genes).

By CGC Genetics in Portugal.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
50 %
Rothmund Thomson Syndrome via the RECQL4 Gene.

By PreventionGenetics PreventionGenetics in United States.

RECQL4
Specificity
100 %
Genes
50 %
Congenital Limb Malformation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BRCA2, RECQL4, COL2A1, CC2D2A, CEP290, SHH, DHODH, MKS1, FGFR3, FGFR2, NIPBL, PALB2, BRIP1, RAD51C, FIG4, FLNA, PIGV, SALL1, CHSY1, NSDHL , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
50 %
Chromosomal Instability Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RECQL4, BLM, ATM, MRE11, NBN, ERCC6, ERCC8, WRN
Specificity
13 %
Genes
50 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH , (...)

View the complete list with 238 more genes
Specificity
1 %
Genes
50 %
Craniosynostosis Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

RECQL4, FGFR3, FGFR2, FGFR1, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, EFNB1, IFT43, IL11RA, IFT122, FREM1, CDC45 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
Craniosynostosis Comprehensive panel.

By Connective Tissue Gene Tests in United States.

RECQL4, FGFR3, FGFR2, FGFR1, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, EFNB1, IFT43, IL11RA, IFT122, FREM1, CDC45 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
Craniosynostosis NGS panel.

By Connective Tissue Gene Tests in United States.

RECQL4, FGFR3, FGFR2, FGFR1, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, EFNB1, IFT43, IL11RA, IFT122, FREM1, CDC45 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
Progeroid syndromes and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

RECQL4, B4GALT7, PYCR1, FBN1, ALDH18A1, LMNA, BSCL2, ERCC2, ERCC3, ZMPSTE24, ERCC6, ERCC4, B3GALT6, POLD1, ERCC8, AGPAT2, WRN, PDGFRB, ERCC5, BANF1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
Progeroid syndromes and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

RECQL4, B4GALT7, PYCR1, FBN1, ALDH18A1, LMNA, BSCL2, ERCC2, ERCC3, ZMPSTE24, ERCC6, ERCC4, B3GALT6, POLD1, ERCC8, AGPAT2, WRN, PDGFRB, ERCC5, BANF1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
Progeroid syndromes and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

RECQL4, B4GALT7, PYCR1, FBN1, ALDH18A1, LMNA, BSCL2, ERCC2, ERCC3, ZMPSTE24, ERCC6, ERCC4, B3GALT6, POLD1, ERCC8, AGPAT2, WRN, PDGFRB, ERCC5, BANF1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
50 %
Hereditary Cancer Syndromes - panels.

By MGZ Medical Genetics Center in Germany.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC , (...)

View the complete list with 80 more genes
Specificity
1 %
Genes
50 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
50 %
Breast Cancer.

By MGZ Medical Genetics Center in Germany.

BRCA1, BRCA2, MSH2, PMS2, MSH6, MLH1, PTEN, RECQL4, TP53, SDHC, FH, SDHB, FANCC, BLM, ATM, NBN, PALB2, CDH1, STK11, SDHD , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
50 %
RAPADILINO syndrome.

By Centogene AG - the Rare Disease Company in Germany.

RECQL4
Specificity
100 %
Genes
50 %
Rothmund-Thomson syndrome.

By Centogene AG - the Rare Disease Company in Germany.

RECQL4
Specificity
100 %
Genes
50 %
Baller-Gerold syndrome.

By Centogene AG - the Rare Disease Company in Germany.

RECQL4
Specificity
100 %
Genes
50 %
Disorders associated with malignancy Panel.

By CeGaT GmbH in Germany.

MSH2, PMS2, MSH6, MLH1, PTEN, RECQL4, SDHB, BLM, TINF2, TSC2, TSC1, ATM, PTCH1, NF2, STK11, SDHD, FLCN, PRKAR1A, RTEL1, NF1 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
50 %
Familial Tumor Syndromes Panel.

By CeGaT GmbH in Germany.

PTEN, RECQL4, TP53, RB1, RET, SDHC, FH, SDHB, BLM, TSC2, TSC1, NBN, NF2, CDKN2A, SDHD, MET, CDC73, NF1, LZTR1, SPRED1 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
50 %
Selected Genetic Syndromes with skeletal involvement Panel.

By CeGaT GmbH in Germany.

RECQL4, LMX1B, FGFR3, CREBBP, FGFR2, CDKN1C, CENPJ, SALL1, CEP152, PCNT, ATR, GDF6, SH3PXD2B, DNA2, FGF10, SALL4, TBX5, EP300, RBBP8, GDF3 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
50 %
Progeria syndromes Panel.

By CeGaT GmbH in Germany.

RECQL4, B4GALT7, PYCR1, ALDH18A1, BLM, LMNA, ERCC2, ERCC3, ZMPSTE24, ERCC6, ERCC4, POLD1, ERCC8, PTDSS1, WRN, ERCC5, GTF2H5, BANF1
Specificity
6 %
Genes
50 %
Craniosynostosis syndromes Panel.

By CeGaT GmbH in Germany.

RECQL4, FGFR3, FGFR2, FGFR1, WDR35, RAB23, POR, MSX2, TWIST1, SKI, WDR19, ALX4, EFNB1, IFT43, IL11RA, IFT122, FREM1, MEGF8, ERF, TCF12
Specificity
5 %
Genes
50 %
Cancer Predisposition.

By Asper Biogene Asper Biogene LLC in Estonia.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC, FH , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
50 %
Craniosynostosis.

By Asper Biogene Asper Biogene LLC in Estonia.

RECQL4, FGFR3, FGFR2, FGFR1, MSX2, TWIST1, IL11RA
Specificity
15 %
Genes
50 %
qGenEx Craniofacial Anomalies.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

RECQL4, EYA1, COL2A1, PAX6, FOXC1, PITX2, OTX2, SHH, DHODH, BCOR, CTSK, FGFR3, CHD7, GJB6, IKBKG, PORCN, RUNX2, FGFR2, RAD21, SMC3 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
50 %
Invitae Sarcoma Panel.

By Invitae in United States.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, TP53, RB1, SDHC, FH, SDHB, SDHA, BLM, HRAS, NBN, PTCH1, SUFU, CDKN1C, SDHD , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
Invitae Multi-Cancer Panel.

By Invitae in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
50 %
Invitae RECQL4-Related Disorders Test.

By Invitae in United States.

RECQL4
Specificity
100 %
Genes
50 %
Invitae Pediatric Solid Tumors Panel.

By Invitae in United States.

VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, RECQL4, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, SDHA , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
50 %
Rothmund-Thompson syndrome: RECQL4 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

RECQL4
Specificity
100 %
Genes
50 %
Craniosysostosis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

RECQL4, FGFR3, FGFR2, FGFR1, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, EFNB1, IFT43, IL11RA, IFT122, FREM1
Specificity
6 %
Genes
50 %
Rothmund-Thomson Syndrome: RECQL4 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RECQL4
Specificity
100 %
Genes
50 %
Rothmund-Thomson Syndrome: RECQL4 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RECQL4
Specificity
100 %
Genes
50 %
Limb Malformation: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RECQL4, CC2D2A, CEP290, SHH, MKS1, FGFR3, FGFR2, NIPBL, PIGV, SALL1, CHSY1, SOX9, GLI3, TP63, CDH3, BMPR1B, PITX1, FGF10, SALL4, TBX5 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
50 %
Skeletal Dysplasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 143 more genes
Specificity
1 %
Genes
50 %
Hereditary Cancer NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, TP53, WT1, RB1, SDHAF2, RET, MC1R, TYR, KIF1B , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
50 %
Skeletal Dysplasias NGS panel.

By Fulgent Genetics Fulgent Genetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 141 more genes
Specificity
1 %
Genes
50 %
RECQL4.

By Fulgent Genetics Fulgent Genetics in United States.

RECQL4
Specificity
100 %
Genes
50 %
Comprehensive Cancer Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R, TYR , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
50 %
Sarcoma Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, TP53, RB1, SDHC, FH, SDHB, SDHA, BLM, HRAS, NBN, PTCH1, SUFU, CDKN1C, SDHD , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
Progeria and Progeroid Syndromes Panel.

By Blueprint Genetics in Finland.

RECQL4, B4GALT7, COL3A1, PYCR1, ALDH18A1, BLM, LMNA, BSCL2, ERCC2, ZMPSTE24, ERCC6, GORAB, ERCC4, ERCC8, AGPAT2, WRN, ERCC5
Specificity
6 %
Genes
50 %
Brachydactyly / Syndactyly Panel.

By Blueprint Genetics in Finland.

RECQL4, DHCR7, CHSY1, SOX9, TP63, BMPR1B, GNAS, MYCN, ESCO2, HOXA13, ROR2, CCNQ, PDE4D, PTDSS1, HOXD13, PTHLH, GDF5, BMP2, IHH, NOG
Specificity
5 %
Genes
50 %
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
50 %
Hereditary Pediatric Cancer Panel.

By Blueprint Genetics in Finland.

VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, RECQL4, RUNX1, TP53, WT1, SDHAF2, RET, SDHC, RAF1, FH, SDHB, TMEM127, MEN1 , (...)

View the complete list with 51 more genes
Specificity
2 %
Genes
50 %
Comprehensive Hereditary Cancer Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, SDHAF2, RET, SDHC, RAF1 , (...)

View the complete list with 126 more genes
Specificity
1 %
Genes
50 %
Hemophagocytic Lymphohistiocytosis Panel.

By Blueprint Genetics in Finland.

RECQL4, PRF1, MAGT1, LYST, SH2D1A, MYO5A, RAB27A, UNC13D, FAS, STX11, XIAP, FASLG, STXBP2, ITK, FADD
Specificity
7 %
Genes
50 %
Comprehensive Hematology Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2 , (...)

View the complete list with 219 more genes
Specificity
1 %
Genes
50 %
Bone Marrow Failure Syndrome Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, SLC37A4, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, RPL35A, HAX1 , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
50 %
Craniosynostosis Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, FGFR3, FGFR2, FGFR1, PAX3, EDNRB, SOX10, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, IFT140, WDR19, ALX4 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
50 %
Cataract Panel.

By Blueprint Genetics in Finland.

RECQL4, EYA1, COL2A1, PAX6, PITX3, ABCB6, WFS1, OCRL, NDP, NHS, CRYAB, OPA3, AGK, ALDH18A1, TMEM70, FYCO1, GJA3, BCOR, GALT, GALE , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
50 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7 , (...)

View the complete list with 226 more genes
Specificity
1 %
Genes
50 %
Limb Malformations Panel.

By Blueprint Genetics in Finland.

BRCA2, RECQL4, DHODH, FANCC, HDAC8, RAD21, SMC3, SMC1A, NIPBL, PALB2, BRIP1, RAD51C, SALL1, DLX5, FANCB, NSDHL, ATR, NOTCH1, TP63, FGF10 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
50 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
50 %
Rothmund-Thomson syndrome.

By Bioarray in Spain.

RECQL4
Specificity
100 %
Genes
50 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
50 %
BALLER-GEROLD SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

RECQL4
Specificity
100 %
Genes
50 %
RAPADILINO SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

RECQL4
Specificity
100 %
Genes
50 %
ROTHMUND-THOMSON SYNDROME TYPE 2.

By Laboratorio de Genetica Clinica SL in Spain.

RECQL4
Specificity
100 %
Genes
50 %
Rothmund-Thomson Syndrome , Sequencing RECQL4 Gene.

By Reference Laboratory Genetics in Spain.

RECQL4
Specificity
100 %
Genes
50 %
Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes.

By Reference Laboratory Genetics in Spain.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
50 %
Chromosome Breakage Related Disorders , Panel Massive Sequencing (NGS) 8 Genes.

By Reference Laboratory Genetics in Spain.

RECQL4, BLM, ATM, MRE11, NBN, ERCC6, ERCC8, WRN
Specificity
13 %
Genes
50 %
Hereditary Sarcoma (Susceptibility to) , Panel Massive Sequencing (NGS) 25 Genes.

By Reference Laboratory Genetics in Spain.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, TP53, RB1, SDHAF2, SDHC, FH, SDHB, BLM, HRAS, NBN, PTCH1, SUFU, CDKN1C, SDHD , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
50 %
Brachydactyly , Panel Massive Sequencing (NGS) 18 Genes.

By Reference Laboratory Genetics in Spain.

RECQL4, CHSY1, SOX9, TP63, BMPR1B, GNAS, MGP, ESCO2, HOXA13, ROR2, TBX15, WNT7A, HOXD13, PTHLH, GDF5, BMP2, IHH, NOG
Specificity
6 %
Genes
50 %
Phosphorus Pan-Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH , (...)

View the complete list with 63 more genes
Specificity
2 %
Genes
50 %
Phosphorus Pediatric Cancers Panel.

By Phosphorus Diagnostics LLC in United States.

VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
50 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
50 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
50 %
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, HFE, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R , (...)

View the complete list with 123 more genes
Specificity
1 %
Genes
50 %
Rothmund-Thomson Syndrome: RECQL4 Gene Sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

RECQL4
Specificity
100 %
Genes
50 %
Rothmund-Thomson Syndrome: RECQL4 Gene Deletion/Duplication.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

RECQL4
Specificity
100 %
Genes
50 %

Alternate names

Rothmund-thomson Syndrome; Rts Is also known as poikiloderma atrophicans and cataract;benign chronic familial pemphigus of hailey-hailey; hailey-hailey disease.


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