Cutaneous Telangiectasia And Cancer Syndrome, Familial; Fctcs

Description

Patients with this syndrome develop cutaneous telangiectases in infancy with patchy alopecia over areas of affected skin, thinning of the lateral eyebrows, and mild dental and nail anomalies. Affected individuals are at increased risk of developing oropharyngeal cancer, and other malignancies have been reported as well (Tanaka et al., 2012).

Clinical Features

Top most frequent phenotypes and symptoms related to Cutaneous Telangiectasia And Cancer Syndrome, Familial; Fctcs

  • Pica
  • Neoplasm
  • Alopecia
  • Carcinoma
  • Carious teeth
  • Convex nasal ridge
  • Hypoplasia of dental enamel
  • Telangiectasia
  • Neoplasm of the skin
  • Breast carcinoma
And another 9 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Cutaneous Telangiectasia And Cancer Syndrome, Familial; Fctcs Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS Epilepsy/Seizure Panel.

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

MTHFR, UBE3A, ADSL, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, NDUFA1, TPP1, CLN3, ARX , (...)

View the complete list with 125 more genes
Specificity
1 %
Genes
100 %
Comprehensive Brain Malformation Panel.

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

UBE3A, PTEN, TUBB3, CC2D2A, OTX2, TMEM67, NPHP1, CEP290, SHH, SLC25A19, MECP2, TUBA1A, RARS2, MRPS16, SLC9A6, MKS1, SOX2, HESX1, ARX, CDKL5 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Microcephaly.

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

UBE3A, TUBB3, SLC25A19, MECP2, SLC9A6, CDKL5, DHCR7, FOXG1, WDR62, NIPBL, MCPH1, ASPM, CENPJ, RAB3GAP1, STIL, TCF4, ATRX, CASK, ZEB2, CEP152 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
ATR sequencing.

By Genetic Services Laboratory University of Chicago in United States.

ATR
Specificity
100 %
Genes
100 %
Seckel Syndrome Panel.

By Genetic Services Laboratory University of Chicago in United States.

CENPJ, CEP152, PCNT, ATR, DNA2, RBBP8, LIG4, CEP63, TRAIP, NIN
Specificity
10 %
Genes
100 %
Comprehensive Primordial Dwarfism Panel.

By Genetic Services Laboratory University of Chicago in United States.

CENPJ, CEP152, CDK5RAP2, PCNT, ATR, DNA2, TRIM37, RBBP8, LIG4, RTTN, CUL7, SASS6, CEP63, TRAIP, ORC1, GMNN, CDC6, CDT1, ORC6, ORC4 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Microcephaly Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

UBE3A, SLC25A19, MECP2, SLC9A6, WWOX, CDKL5, FOXG1, SLC2A1, WDR62, NBN, MCPH1, ASPM, ARFGEF2, CENPJ, QARS, NDE1, PQBP1, RAB3GAP1, TSEN54, STIL , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
100 %
Microcephaly Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

UBE3A, SLC25A19, MECP2, SLC9A6, WWOX, CDKL5, FOXG1, SLC2A1, WDR62, NBN, MCPH1, ASPM, ARFGEF2, CENPJ, QARS, NDE1, PQBP1, RAB3GAP1, TSEN54, STIL , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
ATR. Complete sequencing.

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

ATR
Specificity
100 %
Genes
100 %
Seckel syndrome 1 (sequence analysis of ATR gene).

By CGC Genetics in Portugal.

ATR
Specificity
100 %
Genes
100 %
Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes).

By CGC Genetics in Portugal.

SLC25A19, DNM1L, RARS2, WDR62, DYNC1H1, VRK1, POMT1, MCPH1, ASPM, MBD5, CENPJ, NDE1, PQBP1, TSEN54, PAFAH1B1, STIL, TUBB2B, DYRK1A, PNKP, OPHN1 , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
100 %
Seckel Syndrome, Primary Microcephaly and Familial Cutaneous Telangiectasia and Cancer Syndrome via ATR Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ATR
Specificity
100 %
Genes
100 %
Microcephalic primordial dwarfism Comprehensive panel.

By Connective Tissue Gene Tests in United States.

CENPJ, CEP152, PCNT, ATR, DNA2, RBBP8, LIG4, CEP63, TRAIP, NIN, CDC45, ORC1, GMNN, CDC6, CDT1, ORC6, ORC4, RNU4ATAC, XRCC4, ATRIP , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Microcephalic primordial dwarfism Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

CENPJ, CEP152, PCNT, ATR, DNA2, RBBP8, LIG4, CEP63, TRAIP, NIN, CDC45, ORC1, GMNN, CDC6, CDT1, ORC6, ORC4, RNU4ATAC, XRCC4, ATRIP , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Microcephalic primordial dwarfism NGS panel.

By Connective Tissue Gene Tests in United States.

CENPJ, CEP152, PCNT, ATR, DNA2, RBBP8, LIG4, CEP63, TRAIP, NIN, CDC45, ORC1, GMNN, CDC6, CDT1, ORC6, ORC4, RNU4ATAC, XRCC4, ATRIP , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
Seckel Syndrome.

By Institute of Human Genetics Cologne University in Germany.

CENPJ, CEP152, CDK5RAP2, ATR, DNA2, RBBP8, NIN, ATRIP
Specificity
13 %
Genes
100 %
Seckel Syndrome.

By GeneTech ATS GeneTech Private Limited in India.

ATR
Specificity
100 %
Genes
100 %
Seckel syndrome type 1.

By Centogene AG - the Rare Disease Company in Germany.

ATR
Specificity
100 %
Genes
100 %
Cancer Hotspot Panel.

By Centogene AG - the Rare Disease Company in Germany.

BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, GNAT2, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, NRAS, PTPN11, FGFR2 , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
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
100 %
Microcephaly and Pontocerebellar Hypoplasia Panel.

By CeGaT GmbH in Germany.

SLC25A19, RARS2, WDR62, DYNC1H1, VRK1, MCPH1, ASPM, MBD5, CENPJ, PQBP1, TSEN54, STIL, DYRK1A, PNKP, CASK, EXOSC3, TSEN34, TSEN2, CEP152, CDK5RAP2 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Microcephaly and Pontocerebellar Hypoplasia Panel.

By CeGaT GmbH in Germany.

SLC25A19, RARS2, WDR62, DYNC1H1, VRK1, MCPH1, ASPM, MBD5, CENPJ, PQBP1, TSEN54, STIL, DYRK1A, PNKP, CASK, EXOSC3, TSEN34, TSEN2, CEP152, CDK5RAP2 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
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
100 %
Brain malformations.

By Asper Biogene Asper Biogene LLC in Estonia.

TUBB3, INPP5E, CC2D2A, ATP6V0A2, SRD5A3, TMEM67, NPHP1, CEP290, DLD, SLC25A19, MECP2, PDHB, TUBA1A, RARS2, PDP1, GCSH, GLDC, AMT, PDHA1, DLAT , (...)

View the complete list with 125 more genes
Specificity
1 %
Genes
100 %
Seckel Syndrome 1.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany.

ATR
Specificity
100 %
Genes
100 %
Seckel syndrome: ATR gene mutation analysis (A2101G, G4066T, 2320delA).

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

ATR
Specificity
100 %
Genes
100 %
Seckel syndrome: ATR gene sequence analysis.

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

ATR
Specificity
100 %
Genes
100 %
Microcephaly, primary, autosomal recessive and Seckel syndrome spectrum disorders.

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

WDR62, MCPH1, ASPM, CENPJ, STIL, CEP152, CDK5RAP2, ATR, RBBP8, CDK6, CEP135, KNL1, CEP63
Specificity
8 %
Genes
100 %
Neurology: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

UBE3A, ADSL, TUBB3, CC2D2A, TMEM67, NPHP1, ADGRV1, CEP290, SHH, POLG, SLC25A19, MECP2, LIAS, GAMT, GATM, STXBP1, TUBA1A, RARS2, CTSD, SLC25A22 , (...)

View the complete list with 144 more genes
Specificity
1 %
Genes
100 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
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
100 %
Primordial Dwarfism NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CENPJ, CEP152, PCNT, ATR, RBBP8, CEP63, ORC1, CDC6, CDT1, ORC6, ORC4, RNU4ATAC
Specificity
9 %
Genes
100 %
ATR.

By Fulgent Genetics Fulgent Genetics in United States.

ATR
Specificity
100 %
Genes
100 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
100 %
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
100 %
Microcephaly and Pontocerebellar Hypoplasia Panel.

By Blueprint Genetics in Finland.

RARS2, GFM1, WDR62, MRE11, PHGDH, DYNC1H1, VRK1, POMT1, MCPH1, ASPM, MBD5, CENPJ, NDE1, PQBP1, TSEN54, PAFAH1B1, STIL, TUBB2B, KANSL1, DYRK1A , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
Fanconi Anemia Panel.

By Blueprint Genetics in Finland.

BRCA2, FANCC, BLM, ATM, NBN, PALB2, BRIP1, RAD51C, FANCB, ATR, FANCA, FANCG, FANCF, FANCE, SLX4, FANCM, FANCL, FANCI, FANCD2, XRCC2 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Comprehensive Short Stature Syndrome Panel.

By Blueprint Genetics in Finland.

BCS1L, PITX2, OTX2, RAF1, SOX2, HESX1, FGFR3, BRAF, CREBBP, DHCR7, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, HDAC8, RIT1, MAP2K2 , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
100 %
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
100 %
3-M Syndrome / Primordial Dwarfism Panel.

By Blueprint Genetics in Finland.

BCS1L, CENPJ, CEP152, PCNT, ATR, TRIM37, RBBP8, NOTCH2, SRCAP, RTTN, CUL7, CEP63, CDC45, ORC1, CDC6, CDT1, ORC6, ORC4, RNU4ATAC, XRCC4 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
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
100 %
Seckel Syndrome Panel.

By Blueprint Genetics in Finland.

CENPJ, CEP152, PCNT, ATR, RBBP8, CEP63
Specificity
17 %
Genes
100 %
Anemia Panel.

By Blueprint Genetics in Finland.

BRCA2, HFE, YARS2, PC, HBB, AMN, MTR, CLCN7, ALAS2, GPI, RPL35A, PUS1, PDHA1, ABCB7, TCN2, NT5C3A, CUBN, CYB5R3, SLC25A38, PDHX , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
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
100 %
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
100 %
Seckel syndrome.

By Bioarray in Spain.

ATR
Specificity
100 %
Genes
100 %
Seckel Syndrome NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

CENPJ, CEP152, ATR, RBBP8, CEP63
Specificity
20 %
Genes
100 %
ATR Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

ATR
Specificity
100 %
Genes
100 %
FoundationOne® Heme.

By Foundation Medicine, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, PC, FOXL2, HNF1A, WT1, RB1, RET, TNFRSF11A, CPS1, SDHC , (...)

View the complete list with 385 more genes
Specificity
1 %
Genes
100 %
Hereditary Cancer Comprehensive Panel.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, WT1, RET, SDHC, SDHB, MEN1, ATM, MRE11 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
100 %
NeoTYPE® Discovery Profile for Solid Tumors.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, FOXL2, HNF1A, WT1, RB1, RET, SDHC, RAF1, FH , (...)

View the complete list with 295 more genes
Specificity
1 %
Genes
100 %
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
100 %
SYNDROME DE SECKEL: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

CENPJ, CEP152, ATR, DNA2, RBBP8, CEP63, NIN
Specificity
15 %
Genes
100 %
SECKEL SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

CENPJ, CEP152, ATR, DNA2, RBBP8, CEP63
Specificity
17 %
Genes
100 %
Seckel Syndrome, Mutations (A2101G, G4066T, 2320delA) ATR Gene.

By Reference Laboratory Genetics in Spain.

ATR
Specificity
100 %
Genes
100 %
Ataxia-Telangiectasia, Panel Massive Sequencing (NGS) ATM, ATR, MRE11A Genes.

By Reference Laboratory Genetics in Spain.

ATM, MRE11, ATR
Specificity
34 %
Genes
100 %
Seckel Syndrome, Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

CENPJ, CEP152, ATR, RBBP8, CEP63
Specificity
20 %
Genes
100 %
Primordial Dwarfism and Related Disorders , Panel Massive Sequencing (NGS) 12 Genes.

By Reference Laboratory Genetics in Spain.

CENPJ, CEP152, PCNT, ATR, RBBP8, CEP63, ORC1, CDC6, CDT1, ORC6, ORC4, RNU4ATAC
Specificity
9 %
Genes
100 %
152 Integrated Advantage NGS Solid Tumor Panel.

By Integrated Molecular Diagnostics Pathology, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, MLH1, PTEN, TP53, RB1, RET, RAF1, IDH2, TYMP, STAT3, FGFR3, AR, FANCC, BRAF, HRAS, KRAS , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
100 %
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
100 %
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
100 %
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
100 %
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

WDR62, MCPH1, ASPM, CENPJ, STIL, CEP152, CDK5RAP2, ATR, RBBP8, PHC1, CDK6, CEP135, KNL1, CEP63, NIN, ATRIP
Specificity
7 %
Genes
100 %

Alternate names

Cutaneous Telangiectasia And Cancer Syndrome, Familial; Fctcs Is also known as telangiectasia, cutaneous, and cancer syndrome, familial;.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like WAARDENBURG SYNDROME, TYPE 3; WS3 MCLEOD SYNDROME; MCLDS POLYCYSTIC KIDNEY DISEASE 5; PKD5 EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE, CARDIAC VALVULAR FORM

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more