Fanconi Anemia, Complementation Group Q; Fancq
Description
Fanconi anemia (FA) is a rare genomic instability disorder characterized by bone marrow failure, congenital malformations, hypersensitivity to DNA interstrand crosslink-inducing agents, chromosome fragility, and high susceptibility to cancer (summary by Bogliolo et al., 2013).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.
Clinical Features
Top most frequent phenotypes and symptoms related to Fanconi Anemia, Complementation Group Q; Fancq
- Short stature
- Microcephaly
- Growth delay
- Neoplasm
- Low-set ears
- Anemia
- Scarring
- Cutaneous photosensitivity
- Hyperpigmentation of the skin
- Cafe-au-lait spot
And another 6 symptoms. If you need more information about this disease we can help you.
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 Q; Fancq Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
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 % |
Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS).
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
RMRP, RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, BRCA2, SRP72, TAZ, TERC, TERT, TINF2, WAS, WIPF1 , (...)
View the complete list with 40 more genes
Specificity
2 %
Genes
100 % |
Fanconi Anemia Panel by next-generation sequencing (NGS).
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
BRCA2, BRIP1, FANCL, FANCM, SLX4, FANCI, PALB2, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, RAD51C
Specificity
7 %
Genes
100 % |
Bone Marrow Failure Syndromes Deletion/Duplication Panel.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
RMRP, RPL11, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, BRCA2, SRP72, TAZ, TERC, TERT, TINF2, WAS, WIPF1, NHP2, NOP10 , (...)
View the complete list with 36 more genes
Specificity
2 %
Genes
100 % |
Fanconi Anemia Deletion/Duplication Panel.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
BRCA2, BRIP1, FANCL, FANCM, SLX4, FANCI, PALB2, ERCC4, FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, RAD51C
Specificity
7 %
Genes
100 % |
ERCC4 (FANCQ) Deletion/duplication analysis.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
ERCC4
Specificity
100 %
Genes
100 % |
ERCC4 (FANCQ) Sequencing.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
ERCC4
Specificity
100 %
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 % |
You can get up to 66 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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