Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1; Rusat1

Description

Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) is characterized by thrombocytopenia that progresses to pancytopenia, in association with congenital proximal fusion of the radius and ulna that results in extremely limited pronation and supination of the forearm (summary by Niihori et al., 2015). Genetic Heterogeneity of Radioulnar Synostosis with Amegakaryocytic ThrombocytopeniaRadioulnar synostosis with amegakaryocytic thrombocytopenia-2 (RUSAT2 ) is caused by heterozygous mutation in the MECOM gene (OMIM ) on chromosome 3q26.

Clinical Features

Top most frequent phenotypes and symptoms related to Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1; Rusat1

  • Sensorineural hearing impairment
  • Thrombocytopenia
  • Clinodactyly of the 5th finger
  • Syndactyly
  • Clinodactyly
  • Finger syndactyly
  • Hip dislocation
  • Hip dysplasia
  • Radioulnar synostosis
  • Cutaneous finger syndactyly
And another 10 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1; Rusat1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Platelet Disorders.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

RUNX1, DTNBP1, HPS1, HPS6, HPS5, HPS4, HPS3, AP3B1, ANKRD26, DPAGT1, MPL, WAS, FLNA, MYH9, GATA1, BLOC1S6, LYST, VWF, GNAS, F8 , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
50 %
Thrombocytopenia Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

CYCS, ANKRD26, GATA2, MPL, WAS, FLNA, MYH9, GATA1, TERC, TERT, VWF, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
50 %
Thrombocytopenia Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

RUNX1, CYCS, ANKRD26, GATA2, MPL, WAS, FLNA, MYH9, GATA1, TERC, TERT, VWF, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
50 %
Radioulnar synostosis with amegakaryocytic thrombocytopenia (sequence analysis of HOXA11 gene).

By CGC Genetics in Portugal.

HOXA11
Specificity
100 %
Genes
50 %
Bleeding Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

F2, F5, RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, AP3B1, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, F11, VWF , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
50 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH , (...)

View the complete list with 238 more genes
Specificity
1 %
Genes
50 %
Thrombocytopenia Sequencing Panel with CNV Detection - Expanded.

By PreventionGenetics PreventionGenetics in United States.

RUNX1, CYCS, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, ADAMTS13, ABCG5, ABCG8, GP1BA, NBEAL2, HOXA11, GFI1B, CD36, ITGB3, ITGA2B, MASTL, ETV6 , (...)

View the complete list with 9 more genes
Specificity
7 %
Genes
100 %
Thrombocytopenia NGS Panel.

By Connective Tissue Gene Tests in United States.

RUNX1, SMPD1, CYCS, AP3B1, ANKRD26, GBA, MPL, WAS, MYH9, GATA1, LYST, ADAMTS13, TBXAS1, NBEAL2, HOXA11, ITGB3, ITGA2B, MASTL, ETV6, RBM8A , (...)

View the complete list with 8 more genes
Specificity
8 %
Genes
100 %
Thrombocytopenia Deletion / Duplication Panel.

By Connective Tissue Gene Tests in United States.

RUNX1, SMPD1, CYCS, AP3B1, ANKRD26, GBA, MPL, WAS, MYH9, GATA1, LYST, ADAMTS13, TBXAS1, NBEAL2, HOXA11, ITGB3, ITGA2B, MASTL, ETV6, RBM8A , (...)

View the complete list with 8 more genes
Specificity
8 %
Genes
100 %
Thrombocytopenia Comprehensive Panel.

By Connective Tissue Gene Tests in United States.

RUNX1, SMPD1, CYCS, AP3B1, ANKRD26, GBA, MPL, WAS, MYH9, GATA1, LYST, ADAMTS13, TBXAS1, NBEAL2, HOXA11, ITGB3, ITGA2B, MASTL, ETV6, RBM8A , (...)

View the complete list with 8 more genes
Specificity
8 %
Genes
100 %
Isolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel.

By CeGaT GmbH in Germany.

TRPV4, GLI3, TP63, BMPR1B, GJA1, HOXA11, ROR2, WNT7A, LRP4, HOXD13, PTHLH, GDF5, WNT10B, BMP2, BHLHA9, IHH, FBLN1, NOG, LMBR1, FGF16
Specificity
5 %
Genes
50 %
aCGH Deletion/Duplication Analysis.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.

F2, F5, RUNX1, COL1A1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, HAX1, ENG, MPL, WAS, LMNA, MYH9, GATA1, BLOC1S6, ACVRL1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
50 %
HOXA11.

By Fulgent Genetics Fulgent Genetics in United States.

HOXA11
Specificity
100 %
Genes
50 %
Hemato-oncology chromosomal microarray.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

BRCA1, BRCA2, APC, MSH2, MLH1, TP53, COL1A1, RB1, BLM, BRAF, HRAS, ALK, PTCH1, PHOX2B, SUFU, CDH1, FUS, SETD2, KDM5C, PAX3 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
50 %
Thrombocytopenia Panel.

By Blueprint Genetics in Finland.

RUNX1, CYCS, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, THBD, ADAMTS13, ABCG5, ABCG8, GP1BA, NBEAL2, ITGA2, HOXA11, GFI1B, ITGB3, ITGA2B, MASTL , (...)

View the complete list with 14 more genes
Specificity
6 %
Genes
100 %
Bleeding Disorder/Coagulopathy Panel.

By Blueprint Genetics in Finland.

F2, F5, RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, AP3B1, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, BLOC1S6, F11 , (...)

View the complete list with 42 more genes
Specificity
4 %
Genes
100 %
Comprehensive Hematology Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2 , (...)

View the complete list with 219 more genes
Specificity
1 %
Genes
100 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
100 %
CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA.

By Laboratorio de Genetica Clinica SL in Spain.

MPL, HOXA11
Specificity
50 %
Genes
50 %
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia , Sequencing HOXA11 Gene.

By Reference Laboratory Genetics in Spain.

HOXA11
Specificity
100 %
Genes
50 %
Multiple Synostosis Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

TTR, HOXA11, FLNB, GDF5, FGF9, NOG
Specificity
17 %
Genes
50 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %
Detection by FISH of RPN1/MECOM (inv/t(3)).

By CGC Genetics in Portugal.

RPN1, MECOM
Specificity
50 %
Genes
50 %
Fluorescent in situ Hybridization - Hematopathology.

By Hartford Hospital Laboratory - Molecular Genetics and Cytogenetics Hartford Hospital-Hartford-CT-USA in United States.

RUNX1, TP53, RB1, ATM, CDKN2A, FGFR1, KMT2A, IGH, JAK2, ABL1, PDGFRA, ETV6, BCR, RUNX1T1, PDGFRB, BCL2, PML, CBFB, RARA, TCF3 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
50 %
FISH, MDS Panel.

By Cytogenetics and Molecular Pathology Laboratory UP Health System Marquette in United States.

KMT2A, MECOM, EGR1, PTPRT, MYBL2
Specificity
20 %
Genes
50 %
MECOM.

By Fulgent Genetics Fulgent Genetics in United States.

MECOM
Specificity
100 %
Genes
50 %
Onco microarray for MDS/AML.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

RUNX1, TP53, WT1, IDH2, KRAS, NRAS, PTPN11, CBL, ALK, GATA2, NF1, FUS, GATA1, DNMT3A, EZH2, TFG, TERT, KMT2A, KIT, ASXL1 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
50 %

Alternate names

Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1; Rusat1 Is also known as rusat, thrombocytopenia, congenital, with radioulnar synostosis;ctrus;atrus syndrome.



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