Fanconi Anemia, Complementation Group R; Fancr

Clinical Features

Phenotypes and symptoms related to Fanconi Anemia, Complementation Group R; Fancr

  • Intellectual disability
  • Microcephaly
  • Growth delay
  • Anemia
  • Hydrocephalus
  • Anal atresia
  • Bone marrow hypocellularity
  • Chromosome breakage

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 R; Fancr Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel.

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

RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, RUNX1, BLM, BRCA1, BRCA2, SRP72, TERC, TERT, TINF2, TP53, WAS , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
Breast cancer (sequence analysis of RAD51 gene).

By CGC Genetics (Portugal).

RAD51
Specificity
100 %
Genes
100 %
Hereditary Ovarian Cancer.

By Laboratory of Genetics BioTe21 Adam Master (Poland).

BRCA1, BRCA2, TP53, BRIP1, MRE11, NBN, BARD1, RAD50, RAD51, RAD51C, RAD51D
Specificity
10 %
Genes
100 %
Fanconi Anemia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

BRCA1, BRCA2, XRCC2, BRIP1, FANCL, FANCM, SLX4, UBE2T, FANCI, PALB2, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, MAD2L2, RAD51 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Fanconi Anemia via RAD51/FANCR Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RAD51
Specificity
100 %
Genes
100 %
Mirror movements, familial congenital.

By Centogene AG - the Rare Disease Company (Germany).

RAD51
Specificity
100 %
Genes
100 %
Breast ovarian cancer panel.

By Centogene AG - the Rare Disease Company (Germany).

STK11, TP53, CDH1, BRIP1, PALB2, MRE11, MSH6, NBN, ATM, BARD1, PTEN, RAD51, RAD51C
Specificity
8 %
Genes
100 %
Single gene testing RAD51.

By CeGaT GmbH (Germany).

RAD51
Specificity
100 %
Genes
100 %

You can get up to 18 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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