Neutropenia, Severe Congenital, 2, Autosomal Dominant; Scn2
Genes related to Neutropenia, Severe Congenital, 2, Autosomal Dominant; Scn2
- GFI1
Clinical Features
Phenotypes and symptoms related to Neutropenia, Severe Congenital, 2, Autosomal Dominant; Scn2
- Pneumonia
- Recurrent pneumonia
- B lymphocytopenia
- Congenital neutropenia
- Monocytosis
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.Neutropenia, Severe Congenital, 2, Autosomal Dominant; Scn2 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS).
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
RMRP, RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, BRCA2, SRP72, TAZ, TERC, TERT, TINF2, WAS, WIPF1 , (...)
View the complete list with 40 more genes
Specificity
2 %
Genes
100 % |
Inherited Neutropenia panel by next-generation sequencing (NGS).
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
TAZ, WAS, WIPF1, VPS45, HAX1, SBDS, LYST, VPS13B, CSF3R, G6PC3, CXCR4, USB1, LAMTOR2, ELANE, SLC37A4, GATA1, GATA2, GFI1, AP3B1, RAB27A , (...)
View the complete list with 1 more genes
Specificity
5 %
Genes
100 % |
Bone Marrow Failure Syndromes Deletion/Duplication Panel.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
RMRP, RPL11, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, BRCA2, SRP72, TAZ, TERC, TERT, TINF2, WAS, WIPF1, NHP2, NOP10 , (...)
View the complete list with 36 more genes
Specificity
2 %
Genes
100 % |
Inherited Neutropenia Deletion/Duplication Panel.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
TAZ, WAS, WIPF1, VPS45, HAX1, LYST, VPS13B, CSF3R, G6PC3, CXCR4, USB1, LAMTOR2, ELANE, SLC37A4, GATA1, GATA2, GFI1, AP3B1, RAB27A, RAC2
Specificity
5 %
Genes
100 % |
GFI1 Deletion/duplication analysis.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
GFI1
Specificity
100 %
Genes
100 % |
GFI1 Sequencing.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
GFI1
Specificity
100 %
Genes
100 % |
Inherited Bone Marrow Failure Sequencing Panel.
By Genetic Services Laboratory University of Chicago (United States).
RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, RUNX1, BRCA2, SRP72, TERC, TERT, TINF2, WAS, XRCC2, SAMD9, SAMD9L , (...)
View the complete list with 41 more genes
Specificity
2 %
Genes
100 % |
Severe Congenital Neutropenia Sequencing Panel.
By Genetic Services Laboratory University of Chicago (United States).
WAS, VPS45, HAX1, CSF3R, G6PC3, CXCR4, ELANE, GFI1
Specificity
13 %
Genes
100 % |
You can get up to 33 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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