Fanconi Anemia, Complementation Group T; Fanct

Description

Fanconi anemia is characterized by genomic instability, increased susceptibility to cancer development, and bone marrow failure associated with various developmental abnormalities, such as radial ray anomalies or short stature (summary by Hira et al., 2015).For a discussion of genetic heterogeneity of Fanconi anemia, see FANCA (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Fanconi Anemia, Complementation Group T; Fanct

  • Short stature
  • Neoplasm
  • Anemia
  • Thrombocytopenia
  • Polydactyly
  • Facial palsy
  • Leukemia
  • Pancytopenia
  • Short thumb
  • Bone marrow hypocellularity

And another 5 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.


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Fanconi Anemia, Complementation Group T; Fanct Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
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 %
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 %
NGS Panel for Fanconi anemia.

By BLOODGENETICS BLOODGENETICS (Spain).

BRCA1, BRCA2, XRCC2, BRIP1, FANCL, FANCM, SLX4, UBE2T, RFWD3, FANCI, PALB2, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, MAD2L2 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
UBE2T.

By Fulgent Genetics Fulgent Genetics (United States).

UBE2T
Specificity
100 %
Genes
100 %
FANCONI ANEMIA: NGS PANEL.

By Laboratorio de Genetica Clinica SL (Spain).

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

By Tempus Labs, Inc. (United States).

BCL6, RIT1, BCL7A, BCR, ROS1, RPL5, RPS15, RPS6KB1, RUNX1, RXRA, BLM, SDHA, SDHB, SDHC, SDHD, SEC23B, SEMA3C, BMPR1A, SF3B1, SRSF2 , (...)

View the complete list with 555 more genes
Specificity
1 %
Genes
100 %
Fanconi Anemia: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics (Canada).

BRCA2, XRCC2, BRIP1, FANCL, FANCM, SLX4, UBE2T, RFWD3, FANCI, PALB2, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, MAD2L2, RAD51 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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