Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2; Rusat2

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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).For a discussion of genetic heterogeneity of radioulnar synostosis with amegakaryocytic thrombocytopenia, see RUSAT1 (OMIM ).

Genes related to Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2; Rusat2

MECOM

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2; Rusat2

Hearing impairment
Sensorineural hearing impairment
Anemia
Thrombocytopenia
Clinodactyly
Hepatosplenomegaly
Lymphadenopathy
Neutropenia
Pancytopenia
Cafe-au-lait spot

And another 11 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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.

Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2; Rusat2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Detection by FISH of RPN1/MECOM (inv/t(3)). By CGC Genetics (Portugal). RPN1, MECOM Specificity 50 % Genes 100 %
Thrombocytopenia Sequencing Panel with CNV Detection - Expanded. By PreventionGenetics PreventionGenetics (United States). RUNX1, WAS, ADAMTS13, ABCG5, ABCG8, TUBB1, ACTN1, CD36, MASTL, CYCS, ANKRD26, NBEAL2, ETV6, MECOM, FLI1, FLNA, FYB1, GATA1, GFI1B, GP1BA , (...) View the complete list with 9 more genes Panel complete gene list RUNX1, WAS, ADAMTS13, ABCG5, ABCG8, TUBB1, ACTN1, CD36, MASTL, CYCS, ANKRD26, NBEAL2, ETV6, MECOM, FLI1, FLNA, FYB1, GATA1, GFI1B, GP1BA, GP1BB, GP9, HOXA11, ITGA2B, ITGB3, MPL, MYH9, PRKACG, RBM8A Specificity 4 % Genes 100 %
Thrombocytopenia NGS Panel. By Connective Tissue Gene Tests (United States). RUNX1, SMPD1, SRC, TBXAS1, WAS, WIPF1, ADAMTS13, TUBB1, MASTL, LYST, CYCS, ANKRD26, NBEAL2, SLFN14, ETV6, MECOM, FLI1, FYB1, GATA1, GBA , (...) View the complete list with 8 more genes Panel complete gene list RUNX1, SMPD1, SRC, TBXAS1, WAS, WIPF1, ADAMTS13, TUBB1, MASTL, LYST, CYCS, ANKRD26, NBEAL2, SLFN14, ETV6, MECOM, FLI1, FYB1, GATA1, GBA, HOXA11, AP3B1, ITGA2B, ITGB3, MPL, MYH9, PRKACG, RBM8A Specificity 4 % Genes 100 %
Thrombocytopenia Deletion / Duplication Panel. By Connective Tissue Gene Tests (United States). RUNX1, SMPD1, SRC, TBXAS1, WAS, WIPF1, ADAMTS13, TUBB1, MASTL, LYST, CYCS, ANKRD26, NBEAL2, SLFN14, ETV6, MECOM, FLI1, FYB1, GATA1, GBA , (...) View the complete list with 8 more genes Panel complete gene list RUNX1, SMPD1, SRC, TBXAS1, WAS, WIPF1, ADAMTS13, TUBB1, MASTL, LYST, CYCS, ANKRD26, NBEAL2, SLFN14, ETV6, MECOM, FLI1, FYB1, GATA1, GBA, HOXA11, AP3B1, ITGA2B, ITGB3, MPL, MYH9, PRKACG, RBM8A Specificity 4 % Genes 100 %
Thrombocytopenia Comprehensive Panel. By Connective Tissue Gene Tests (United States). RUNX1, SMPD1, SRC, TBXAS1, WAS, WIPF1, ADAMTS13, TUBB1, MASTL, LYST, CYCS, ANKRD26, NBEAL2, SLFN14, ETV6, MECOM, FLI1, FYB1, GATA1, GBA , (...) View the complete list with 8 more genes Panel complete gene list RUNX1, SMPD1, SRC, TBXAS1, WAS, WIPF1, ADAMTS13, TUBB1, MASTL, LYST, CYCS, ANKRD26, NBEAL2, SLFN14, ETV6, MECOM, FLI1, FYB1, GATA1, GBA, HOXA11, AP3B1, ITGA2B, ITGB3, MPL, MYH9, PRKACG, RBM8A Specificity 4 % Genes 100 %
Fluorescent in situ Hybridization - Hematopathology. By Hartford Hospital Laboratory - Molecular Genetics and Cytogenetics Hartford Hospital-Hartford-CT-USA (United States). BCL6, BCR, RUNX1, ABI1, TCF3, TP53, DLEU1, CRLF2, RUNX1T1, CBFB, CDKN2A, CDKN2C, CKS1B, ETV6, MECOM, FGFR1, IGH, JAK2, MYC, ABL1 , (...) View the complete list with 7 more genes Panel complete gene list BCL6, BCR, RUNX1, ABI1, TCF3, TP53, DLEU1, CRLF2, RUNX1T1, CBFB, CDKN2A, CDKN2C, CKS1B, ETV6, MECOM, FGFR1, IGH, JAK2, MYC, ABL1, ATM, PBX1, PDGFRA, PDGFRB, PML, RARA, RB1 Specificity 4 % Genes 100 %
FISH, MDS Panel. By Cytogenetics and Molecular Pathology Laboratory UP Health System Marquette (United States). EGR1, MECOM, MYBL2, PTPRT Specificity 25 % Genes 100 %
MECOM. By Fulgent Genetics Fulgent Genetics (United States). MECOM Specificity 100 % Genes 100 %

You can get up to 7 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9