Diamond-blackfan Anemia 14 With Mandibulofacial Dysostosis; Dba14

Table of contents:

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

Genes related to Diamond-blackfan Anemia 14 With Mandibulofacial Dysostosis; Dba14

TSR2

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Diamond-blackfan Anemia 14 With Mandibulofacial Dysostosis; Dba14

Hearing impairment
Micrognathia
Cleft palate
Cryptorchidism
Anemia
Downslanted palpebral fissures
Midface retrusion
Conductive hearing impairment
Microtia
Sparse eyelashes

And another 3 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.

Diamond-blackfan Anemia 14 With Mandibulofacial Dysostosis; Dba14 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Diamond-Blackfan anemia (NGS panel of 18 genes). By CGC Genetics (Portugal). RPL11, RPL15, RPL26, RPL27, RPL31, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, TSR2, GATA1 Specificity 6 % Genes 100 %
Diamond-Blackfan anemia (NGS panel of 18 genes). By CGC Genetics (Portugal). RPL11, RPL15, RPL26, RPL27, RPL31, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, TSR2, GATA1 Specificity 6 % Genes 100 %
Diamond-Blackfan anemia NGS panel. By Connective Tissue Gene Tests (United States). RPL11, RPL15, RPL26, RPL27, RPL31, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, TSR2, GATA1 Specificity 6 % Genes 100 %
Diamond-Blackfan anemia Deletion / Duplication panel. By Connective Tissue Gene Tests (United States). RPL11, RPL15, RPL26, RPL27, RPL31, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, TSR2, GATA1 Specificity 6 % Genes 100 %
Diamond-Blackfan anemia Comprehensive panel. By Connective Tissue Gene Tests (United States). RPL11, RPL15, RPL26, RPL27, RPL31, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, TSR2, GATA1 Specificity 6 % Genes 100 %
Diamond-Blackfan anemia type 14 with mandibulofacial dysostosis. By Centogene AG - the Rare Disease Company (Germany). TSR2 Specificity 100 % Genes 100 %
Diamond-Blackfan anemia type 14 with mandibulofacial dysostosis. By Centogene AG - the Rare Disease Company (Germany). TSR2 Specificity 100 % Genes 100 %
NGS Panel for Diamond-Blackfan Anemia. By BLOODGENETICS BLOODGENETICS (Spain). RPL11, RPL15, RPL19, RPL26, RPL27, RPL31, RPL35A, RPL5, RPL9, RPS10, RPS15, RPS17, RPS19, RPS24, RPS26, RPS27, RPS27A, RPS28, RPS29, RPS7 , (...) View the complete list with 3 more genes Panel complete gene list RPL11, RPL15, RPL19, RPL26, RPL27, RPL31, RPL35A, RPL5, RPL9, RPS10, RPS15, RPS17, RPS19, RPS24, RPS26, RPS27, RPS27A, RPS28, RPS29, RPS7, RPL36, TSR2, GATA1 Specificity 5 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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