Fanconi Anemia, Complementation Group O; Fanco

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Genes related to Fanconi Anemia, Complementation Group O; Fanco

RAD51C

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Clinical Features

Top most frequent phenotypes and symptoms related to Fanconi Anemia, Complementation Group O; Fanco

Short stature
Neoplasm
Cryptorchidism
Anemia
Renal insufficiency
Abnormality of cardiovascular system morphology
Abnormal heart morphology
Hydronephrosis
Anal atresia
Stage 5 chronic kidney disease

And another 10 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Fanconi Anemia, Complementation Group O; Fanco Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Hereditary Cancer Panel. By Baylor Miraca Genetics Laboratories (United States). RUNX1, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, VHL, WT1, CBL, SUFU, CDC73, CDH1, CDK4, CDKN1C, CDKN2A , (...) View the complete list with 39 more genes Panel complete gene list RUNX1, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, VHL, WT1, CBL, SUFU, CDC73, CDH1, CDK4, CDKN1C, CDKN2A, CEBPA, SBDS, BRIP1, SDHAF2, TMEM127, PALB2, FLCN, ENG, FH, GATA2, ALK, GPC3, APC, SMAD4, MAX, MEN1, MET, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, NF2, ATM, PAX5, PMS1, PMS2, PHOX2B, PRF1, PRKAR1A, BARD1, PTCH1, PTEN, PTPN11, RAD50, RAD51C, RAD51D, RET Specificity 2 % Genes 100 %
Comprehensive breast and ovarian cancer panel testing (18 genes). By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina). BRCA1, BRCA2, STK11, EPCAM, TP53, CDH1, BRIP1, PALB2, MLH1, MSH2, MSH6, MUTYH, ATM, PMS2, PTEN, RAD51C, RAD51D Specificity 6 % Genes 100 %
Fanconi Anemia Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). BRCA2, BRIP1, FANCL, FANCM, SLX4, FANCI, PALB2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, RAD51C Specificity 7 % Genes 100 %
Inherited Cancer Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). BLM, SDHB, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, TSC1, TSC2, VHL, XRCC2, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, BRIP1, SDHAF2, TMEM127 , (...) View the complete list with 28 more genes Panel complete gene list BLM, SDHB, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, TSC1, TSC2, VHL, XRCC2, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, BRIP1, SDHAF2, TMEM127, PALB2, FLCN, FH, APC, SMAD4, MAX, MEN1, MET, MITF, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, NF1, ATM, PMS2, PRKAR1A, BAP1, BARD1, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RB1, RET Specificity 3 % Genes 100 %
Bone Marrow Failure. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). RPL11, RPL35A, RPL5, RPS10, RPS15, RPS19, RPS24, RPS26, RPS27A, RPS7, BRCA2, SRP72, TERT, THPO, TINF2, XRCC2, RPL36, NHP2, NOP10, SBDS , (...) View the complete list with 23 more genes Panel complete gene list RPL11, RPL35A, RPL5, RPS10, RPS15, RPS19, RPS24, RPS26, RPS27A, RPS7, BRCA2, SRP72, TERT, THPO, TINF2, XRCC2, RPL36, NHP2, NOP10, SBDS, BRIP1, FANCL, FANCM, SLX4, WRAP53, FANCI, USB1, PALB2, CTC1, DKC1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, GATA1, MPL, NBN, PRF1, RAD51C Specificity 3 % Genes 100 %
VistaSeq Hereditary Cancer Panel. By Molecular Diagnostic Laboratory University of Alberta (Canada). BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, CDH1, CDK4, CDKN2A, BRIP1, ABRAXAS1, PALB2, APC, SMAD4, MLH1, MSH2, MSH6, MUTYH, NBN, ATM , (...) View the complete list with 6 more genes Panel complete gene list BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, CDH1, CDK4, CDKN2A, BRIP1, ABRAXAS1, PALB2, APC, SMAD4, MLH1, MSH2, MSH6, MUTYH, NBN, ATM, PMS2, PRKAR1A, BARD1, PTEN, RAD51C, RAD51D Specificity 4 % Genes 100 %
Vistaseq Hereditary Cancer Panel Without BRCA. By Molecular Diagnostic Laboratory University of Alberta (Canada). BMPR1A, STK11, EPCAM, TP53, CDH1, CDK4, CDKN2A, BRIP1, ABRAXAS1, PALB2, APC, SMAD4, MLH1, MSH2, MSH6, MUTYH, NBN, ATM, PMS2, PRKAR1A , (...) View the complete list with 4 more genes Panel complete gene list BMPR1A, STK11, EPCAM, TP53, CDH1, CDK4, CDKN2A, BRIP1, ABRAXAS1, PALB2, APC, SMAD4, MLH1, MSH2, MSH6, MUTYH, NBN, ATM, PMS2, PRKAR1A, BARD1, PTEN, RAD51C, RAD51D Specificity 5 % Genes 100 %
VisaSeq Breast and GYN Cancer Panel. By Molecular Diagnostic Laboratory University of Alberta (Canada). BRCA1, BRCA2, STK11, EPCAM, TP53, CDH1, BRIP1, ABRAXAS1, PALB2, FANCC, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, NF1, ATM, PMS2, BARD1 , (...) View the complete list with 4 more genes Panel complete gene list BRCA1, BRCA2, STK11, EPCAM, TP53, CDH1, BRIP1, ABRAXAS1, PALB2, FANCC, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, NF1, ATM, PMS2, BARD1, PTEN, RAD50, RAD51C, RAD51D Specificity 5 % Genes 100 %

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Sources and references

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