Diamond-blackfan Anemia 17; Dba17

Clinical Features

Phenotypes and symptoms related to Diamond-blackfan Anemia 17; Dba17

  • Anemia
  • Hyperpigmentation of the skin

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.


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Diamond-blackfan Anemia 17; Dba17 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 %
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
Specificity
5 %
Genes
100 %
RPS27.

By Fulgent Genetics Fulgent Genetics (United States).

RPS27
Specificity
100 %
Genes
100 %
BLACKFAN-DIAMOND ANEMIA: NGS PANEL.

By Laboratorio de Genetica Clinica SL (Spain).

RPL11, RPL15, RPL26, RPL27, RPL31, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, TSR2, GATA1
Specificity
6 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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