Fanconi Anemia, Complementation Group U; Fancu

Clinical Features

Phenotypes and symptoms related to Fanconi Anemia, Complementation Group U; Fancu

  • Microcephaly
  • Growth delay
  • Anemia
  • Patent ductus arteriosus
  • Facial palsy
  • Bone marrow hypocellularity
  • Absent thumb
  • Absent scaphoid

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 U; Fancu Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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
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
Specificity
3 %
Genes
100 %
Inherited Bone Marrow Failure Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, RUNX1, BRCA2, SRP72, TERC, TERT, TINF2, WAS, XRCC2, SAMD9, SAMD9L , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %
Fanconi Anemia Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

BRCA2, XRCC2, BRIP1, FANCL, FANCM, SLX4, UBE2T, FANCI, PALB2, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, RAD51C
Specificity
6 %
Genes
100 %
XRCC2.

By Institute for Human Genetics University Clinic Freiburg (Germany).

XRCC2
Specificity
100 %
Genes
100 %
Comprehensive Cancer Panel.

By GeneDx (United States).

BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, VHL, XRCC2, CDH1, CDK4, CDKN2A, BRIP1, PALB2, FANCC, APC, SMAD4, MLH1, MSH2, MSH6, MUTYH , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Breast/Ovarian Cancer Panel.

By GeneDx (United States).

BRCA1, BRCA2, EPCAM, TP53, XRCC2, CDH1, BRIP1, PALB2, FANCC, MLH1, MSH2, MSH6, NBN, ATM, PMS2, BARD1, PTEN, RAD51C, RAD51D
Specificity
6 %
Genes
100 %
Pancreatic Cancer Panel.

By GeneDx (United States).

BRCA1, BRCA2, STK11, EPCAM, TP53, VHL, XRCC2, CDK4, CDKN2A, PALB2, APC, MLH1, MSH2, MSH6, ATM, PMS2
Specificity
7 %
Genes
100 %

You can get up to 50 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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