FANCD2 gene related symptoms and diseases
All the information presented here about the FANCD2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to FANCD2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Absent radius | Very Common - Between 80% and 100% cases |
| Short thumb | Very Common - Between 80% and 100% cases |
| Hypergonadotropic hypogonadism | Very Common - Between 80% and 100% cases |
| Bone marrow hypocellularity | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with FANCD2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Horseshoe kidney
- Ectopic kidney
- Absent thumb
- Reticulocytopenia
- Pancytopenia
- Duplicated collecting system
- Complete duplication of thumb phalanx
- Chromosomal breakage induced by crosslinking agents
And 156 more phenotypes, you can get all of them using our tools for rare diseases.
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Rare diseases associated to FANCD2 gene
Here you will find a list of rare diseases related to the FANCD2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2
Alternate names
FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2 Is also known as facd, fad2, fa4, fanconi anemia, complementation group d, fanconi pancytopenia, type 4, fancd
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}.
Most common symptoms of FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2
- Intellectual disability
- Short stature
- Hearing impairment
- Microcephaly
- Neoplasm
More info about FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2
SOURCES: OMIM
FANCONI ANEMIA
Alternate names
FANCONI ANEMIA Is also known as fanconi pancytopenia, fanconi anemia, fa
Description
Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.
Most common symptoms of FANCONI ANEMIA
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Microcephaly
More info about FANCONI ANEMIA
Search interest in FANCD2
Potential gene panels for FANCD2 gene
Fanconi Anemia Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Fanconi Anemia Panel that also includes the following genes: BRCA2 BRIP1 FANCL FANCM SLX4 FANCI PALB2 FANCA FANCB FANCC
More info about this panelBone Marrow Failure Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Bone Marrow Failure that also includes the following genes: RPL11 RPL35A RPL5 RPS10 RPS15 RPS19 RPS24 RPS26 RPS27A RPS7
More info about this panelBone Marrow Failure Syndromes Panel by next-generation sequencing (NGS) Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS) that also includes the following genes: RMRP RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24
More info about this panelFanconi Anemia Panel by next-generation sequencing (NGS) Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Fanconi Anemia Panel by next-generation sequencing (NGS) that also includes the following genes: BRCA2 BRIP1 FANCL FANCM SLX4 FANCI PALB2 ERCC4 FANCA FANCB
More info about this panelFANCD2 Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the FANCD2 gene.
More info about this panelInherited Bone Marrow Failure Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Inherited Bone Marrow Failure Sequencing Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7
More info about this panelFanconi Anemia Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Fanconi Anemia Sequencing Panel that also includes the following genes: BRCA2 XRCC2 BRIP1 FANCL FANCM SLX4 UBE2T FANCI PALB2 ERCC4
More info about this panelHereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7
More info about this panelFanconi anemia (NGS panel for 15 genes) Panel
Portugal.
By CGC Genetics Fanconi anemia (NGS panel for 15 genes) that also includes the following genes: BRCA2 BRIP1 FANCL FANCM SLX4 FANCI PALB2 FANCA FANCB FANCC
More info about this panelFanconi anemia type D2 (sequence analysis of FANCD2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the FANCD2 gene.
More info about this panelOncoRisk Plus (NGS panel for 89 genes) Panel
Portugal.
By CGC Genetics OncoRisk Plus (NGS panel for 89 genes) that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11
More info about this panelFanconi anemia (deletion/duplicaction analysis of FANCD2 and PALB2 genes) Panel
Portugal.
By CGC Genetics Fanconi anemia (deletion/duplicaction analysis of FANCD2 and PALB2 genes) that also includes the following genes: PALB2 FANCD2
More info about this panelFanconi anemia (deletion/duplicaction analysis of FANCD2 and PALB2 genes) Panel
Portugal.
By CGC Genetics Fanconi anemia (deletion/duplicaction analysis of FANCD2 and PALB2 genes) that also includes the following genes: PALB2 FANCD2
More info about this panelFanconi Anemia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Fanconi Anemia Sequencing Panel with CNV Detection that also includes the following genes: BRCA1 BRCA2 XRCC2 BRIP1 FANCL FANCM SLX4 UBE2T FANCI PALB2
More info about this panelCongenital Limb Malformation Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Congenital Limb Malformation Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP2 BMPR1B SF3B4 FBXW4 SHH BRCA2 SOX9 TBX15
More info about this panelFanconi Anemia via FANCD2 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the FANCD2 gene.
More info about this panelMental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panelHereditary Cancer Syndromes - panels Panel
Germany.
By MGZ Medical Genetics Center Hereditary Cancer Syndromes - panels that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11
More info about this panelOvarian Cancer Panel
Germany.
By MGZ Medical Genetics Center Ovarian Cancer that also includes the following genes: BRCA1 BRCA2 BUB1B TP53 DICER1 BRIP1 FANCL SLX4 FANCI PALB2
More info about this panelBreast Cancer Panel
Germany.
By MGZ Medical Genetics Center Breast Cancer that also includes the following genes: BLM SDHB SDHC SDHD BRCA1 BRCA2 STK11 BUB1B TP53 CDH1
More info about this panelCentoICU platinum plus Panel
Germany.
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelNew Born testing (CentoICU) Panel
Germany.
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelFanconi anemia type D2 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the FANCD2 gene.
More info about this panelFanconi anemia Panel Panel
Germany.
By CeGaT GmbH Fanconi anemia Panel that also includes the following genes: BRCA1 BRCA2 BRIP1 FANCL FANCM SLX4 FANCI PALB2 FANCA FANCB
More info about this panelBreast and Ovarian Cancer - extended Diagnostic Panel Panel
Germany.
By CeGaT GmbH Breast and Ovarian Cancer - extended Diagnostic Panel that also includes the following genes: SDHB SDHC SDHD BRCA1 BRCA2 STK11 EPCAM TP53 XRCC2 CDH1
More info about this panelBone marrow failure syndromes Panel Panel
Germany.
By CeGaT GmbH Bone marrow failure syndromes Panel that also includes the following genes: BRCA2 SRP72 STX11 STXBP2 TERC TERT TINF2 WAS XRCC2 NHP2
More info about this panelCancer Predisposition Panel
Estonia.
By Asper Biogene Asper Biogene LLC Cancer Predisposition that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1
More info about this panelFanconi Anemia Panel
Estonia.
By Asper Biogene Asper Biogene LLC Fanconi Anemia that also includes the following genes: BRCA2 XRCC2 BRIP1 FANCL FANCM SLX4 FANCI PALB2 ERCC4 FANCA
More info about this panelNGS Panel for Fanconi anemia Panel
Spain.
By BLOODGENETICS BLOODGENETICS NGS Panel for Fanconi anemia that also includes the following genes: BRCA1 BRCA2 XRCC2 BRIP1 FANCL FANCM SLX4 UBE2T RFWD3 FANCI
More info about this panelInvitae Bone Marrow Failure Syndromes Panel Panel
United States.
By Invitae Invitae Bone Marrow Failure Syndromes Panel that also includes the following genes: RPL11 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7 RUNX1
More info about this panelInvitae Fanconi Anemia Panel Panel
United States.
By Invitae Invitae Fanconi Anemia Panel that also includes the following genes: BRCA2 XRCC2 BRIP1 FANCL FANCM SLX4 FANCI PALB2 ERCC4 FANCA
More info about this panelFanconi anemia Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Fanconi anemia that also includes the following genes: BRCA2 XRCC2 BRIP1 FANCL FANCM SLX4 FANCI PALB2 FANCA FANCB
More info about this panelONCOLOGY, PANEL Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases ONCOLOGY, PANEL that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRAF BRCA1 BRCA2 SMARCA4
More info about this panelFanconi Anemia NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Fanconi Anemia NGS Panel that also includes the following genes: BRCA2 BRIP1 FANCL FANCM SLX4 FANCI PALB2 ERCC4 FANCA FANCB
More info about this panelHereditary Cancer NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Hereditary Cancer NGS Panel that also includes the following genes: ROBO2 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1
More info about this panelFANCD2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the FANCD2 gene.
More info about this panelComprehensive Cancer Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Comprehensive Cancer Panel that also includes the following genes: ROBO2 RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2
More info about this panelFanconi Anemia Comprehensive Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Fanconi Anemia Comprehensive Panel that also includes the following genes: BRCA2 XRCC2 BRIP1 FANCL FANCM SLX4 FANCI PALB2 ERCC4 FANCA
More info about this panelFanconi Anemia Panel Panel
Finland.
By Blueprint Genetics Fanconi Anemia Panel that also includes the following genes: BLM BRCA2 XRCC2 BRIP1 FANCL FANCM SLX4 FANCI CXCR4 PALB2
More info about this panelComprehensive Hereditary Cancer Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hereditary Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF
More info about this panelComprehensive Hematology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26
More info about this panelBone Marrow Failure Syndrome Panel Panel
Finland.
By Blueprint Genetics Bone Marrow Failure Syndrome Panel that also includes the following genes: RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29
More info about this panelAnemia Panel Panel
Finland.
By Blueprint Genetics Anemia Panel that also includes the following genes: RHAG RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29
More info about this panelLimb Malformations Panel Panel
Finland.
By Blueprint Genetics Limb Malformations Panel that also includes the following genes: SALL1 SF3B4 BRCA2 SMC1A TBX3 TBX5 WNT7A XRCC2 HDAC8 NSDHL
More info about this panelFoundationOne® Heme Panel
United States.
By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1
More info about this panelInherited Bone Marrow Failure Panel Panel
United States.
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. Inherited Bone Marrow Failure Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26
More info about this panelNeoTYPE® Discovery Profile for Solid Tumors Panel
United States.
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2
More info about this panelCaris MI TumorSeek 592-Gene NGS Panel Panel
United States.
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panelFANCONI ANEMIA: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL FANCONI ANEMIA: NGS PANEL that also includes the following genes: BRCA2 XRCC2 BRIP1 FANCL FANCM SLX4 UBE2T FANCI PALB2 ERCC4
More info about this panelBREAST AND OVARIAN CANCER NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL BREAST AND OVARIAN CANCER NGS PANEL that also includes the following genes: BLM BRCA1 BRCA2 STK11 EPCAM TP53 WRN CDH1 PSMC3IP TNFRSF13B
More info about this panelProvidence Personalized Medicine Panel - Solid Tumor Panel
United States.
By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2
More info about this panelFanconi Anemia , Panel Massive Sequencing (NGS) 15 Genes Panel
Spain.
By Reference Laboratory Genetics Fanconi Anemia , Panel Massive Sequencing (NGS) 15 Genes that also includes the following genes: BRCA2 XRCC2 BRIP1 FANCL SLX4 FANCI PALB2 FANCA FANCB FANCC
More info about this panelOncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes Panel
Spain.
By Reference Laboratory Genetics Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11
More info about this panelBone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes Panel
Spain.
By Reference Laboratory Genetics Bone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes that also includes the following genes: RMRP RPL11 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26
More info about this panelPhosphorus Leukemia including Fanconi Anemia Genes Panel Panel
United States.
By Phosphorus Diagnostics LLC Phosphorus Leukemia including Fanconi Anemia Genes Panel that also includes the following genes: RUNX1 BLM BRCA2 EPCAM TERC TERT TINF2 TP53 XRCC2 CEBPA
More info about this panel152 Integrated Advantage NGS Solid Tumor Panel Panel
United States.
By Integrated Molecular Diagnostics Pathology, Inc. 152 Integrated Advantage NGS Solid Tumor Panel that also includes the following genes: ROS1 RRM1 SLCO1B1 BRAF BRCA1 SLC29A1 BRCA2 SMO SPARC SRC
More info about this panelTempus xT assay Panel
United States.
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panelTempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panelCEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel that also includes the following genes: RNASEL RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2
More info about this panelFanconi Anemia: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Fanconi Anemia: gene sequencing panel that also includes the following genes: BRCA2 XRCC2 BRIP1 FANCL FANCM SLX4 UBE2T RFWD3 FANCI PALB2
More info about this panelEsophageal Atresia/Tracheoesophageal Fistula: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Esophageal Atresia/Tracheoesophageal Fistula: gene sequencing panel that also includes the following genes: BRCA2 SOX2 XRCC2 BRIP1 CHD7 FANCL FANCM SLX4 UBE2T RFWD3
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