Neutropenia, Severe Congenital, 5, Autosomal Recessive; Scn5
Description
Severe congenital neutropenia-5 is an autosomal recessive primary immunodeficiency disorder characterized primarily by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis (summary by Vilboux et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (OMIM ).
Genes related to Neutropenia, Severe Congenital, 5, Autosomal Recessive; Scn5
- VPS45
Clinical Features
Top most frequent phenotypes and symptoms related to Neutropenia, Severe Congenital, 5, Autosomal Recessive; Scn5
- Global developmental delay
- Hearing impairment
- Failure to thrive
- Anemia
- Hepatomegaly
- Splenomegaly
- Hypoplasia of the corpus callosum
- Blindness
- Thrombocytopenia
- Pneumonia
Incidence and onset information
— Not enough data available about incidence and published cases.
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Neutropenia, Severe Congenital, 5, Autosomal Recessive; Scn5 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 in United States.
BRCA2, SLC37A4, RPL35A, HAX1, AP3B1, TAZ, FANCC, RMRP, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, RAD51C, MPL, RTEL1, WAS, VPS13B, GATA1 , (...)
View the complete list with 39 more genes
Specificity
2 %
Genes
100 % |
VPS45 Sequencing.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
VPS45
Specificity
100 %
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 in United States.
SLC37A4, HAX1, AP3B1, TAZ, GATA2, SBDS, WAS, VPS13B, GATA1, LYST, USB1, RAB27A, CSF3R, ELANE, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, CXCR4 , (...)
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 in United States.
BRCA2, SLC37A4, RPL35A, HAX1, AP3B1, TAZ, FANCC, RMRP, RPS19, TINF2, PALB2, BRIP1, GATA2, RAD51C, MPL, RTEL1, WAS, VPS13B, GATA1, RPS26 , (...)
View the complete list with 35 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 in United States.
SLC37A4, HAX1, AP3B1, TAZ, GATA2, WAS, VPS13B, GATA1, LYST, USB1, RAB27A, CSF3R, ELANE, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, CXCR4, WIPF1
Specificity
5 %
Genes
100 % |
VPS45 Deletion/duplication analysis.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
VPS45
Specificity
100 %
Genes
100 % |
Inherited Bone Marrow Failure Sequencing Panel.
By Genetic Services Laboratory University of Chicago in United States.
BRCA2, RUNX1, ALAS2, RPL35A, HAX1, FANCC, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, RAD51C, MPL, RTEL1, WAS, SBF2, GATA1, RPS26, RPS10 , (...)
View the complete list with 41 more genes
Specificity
2 %
Genes
100 % |
Severe Congenital Neutropenia Sequencing Panel.
By Genetic Services Laboratory University of Chicago in United States.
HAX1, WAS, CSF3R, ELANE, G6PC3, VPS45, GFI1, CXCR4
Specificity
13 %
Genes
100 % |
Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel.
By Genetic Services Laboratory University of Chicago in United States.
BRCA1, BRCA2, MSH2, PMS2, MSH6, MLH1, RUNX1, TP53, ALAS2, RPL35A, HAX1, ANKRD26, FANCC, BLM, PTPN11, RPS19, TINF2, CBL, ATM, NBN , (...)
View the complete list with 59 more genes
Specificity
2 %
Genes
100 % |
Severe congenital neutropenia (NGS panel for 7 genes).
By CGC Genetics in Portugal.
HAX1, WAS, ELANE, G6PC3, VPS45, GFI1, JAGN1
Specificity
15 %
Genes
100 % |
Hereditary neutropenia (NGS panel for 22 genes).
By CGC Genetics in Portugal.
SLC37A4, HAX1, AP3B1, TAZ, GATA2, SBDS, WAS, VPS13B, GATA1, LYST, USB1, RAB27A, CSF3R, ELANE, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, CXCR4 , (...)
View the complete list with 2 more genes
Specificity
5 %
Genes
100 % |
Severe Congenital Neutropenia via the VPS45 Gene.
By PreventionGenetics PreventionGenetics in United States.
VPS45
Specificity
100 %
Genes
100 % |
Severe Congenital Neutropenia Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
SLC37A4, HAX1, AP3B1, TAZ, GATA2, SBDS, WAS, VPS13B, GATA1, LYST, USB1, RAB27A, CSF3R, ELANE, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, CXCR4 , (...)
View the complete list with 5 more genes
Specificity
4 %
Genes
100 % |
Neutropenia, severe congenital type 5, autosomal recessive.
By Centogene AG - the Rare Disease Company in Germany.
VPS45
Specificity
100 %
Genes
100 % |
Defects of phagocytosis Panel.
By CeGaT GmbH in Germany.
HFE, STAT1, SLC37A4, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, HAX1, AP3B1, TAZ, TCN2, SLC35C1, TCIRG1, CYBA, GATA2, SBDS, CYBB , (...)
View the complete list with 39 more genes
Specificity
2 %
Genes
100 % |
Invitae Primary Immunodeficiency Panel.
By Invitae in United States.
PMS2, STAT1, SLC37A4, CASP8, TLR3, HAX1, AP3B1, UNG, TAP1, TAZ, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)
View the complete list with 187 more genes
Specificity
1 %
Genes
100 % |
Invitae Phagocyte Defects Panel.
By Invitae in United States.
SLC37A4, HAX1, TAZ, SLC35C1, CYBA, PMM2, G6PD, CYBB, WAS, VPS13B, CTSC, CSF2RA, NCF2, NCF4, FERMT3, CSF3R, ELANE, G6PC3, VPS45, GFI1 , (...)
View the complete list with 7 more genes
Specificity
4 %
Genes
100 % |
Neutropenia.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
HAX1, WAS, CSF3R, ELANE, G6PC3, VPS45, GFI1, RAC2, JAGN1
Specificity
12 %
Genes
100 % |
VPS45.
By Fulgent Genetics Fulgent Genetics in United States.
VPS45
Specificity
100 %
Genes
100 % |
Primary Immunodeficiency Panel.
By Blueprint Genetics in Finland.
PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)
View the complete list with 255 more genes
Specificity
1 %
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 % |
Bone Marrow Failure Syndrome Panel.
By Blueprint Genetics in Finland.
BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, SLC37A4, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, RPL35A, HAX1 , (...)
View the complete list with 102 more genes
Specificity
1 %
Genes
100 % |
Congenital Neutropenia Panel.
By Blueprint Genetics in Finland.
SLC37A4, HAX1, GATA2, SBDS, WAS, VPS13B, ACTB, CTSC, LYST, CSF2RA, SRP72, CSF3R, IFNGR2, ELANE, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, JAGN1 , (...)
View the complete list with 6 more genes
Specificity
4 %
Genes
100 % |
Severe Congenital Neutropenia Gene Set.
By Genomics and Pathology Services Washington University in St. Louis in United States.
RUNX1, SLC37A4, HAX1, AP3B1, TAZ, TCIRG1, KRAS, NRAS, GATA2, SBDS, WAS, VPS13B, LYST, USB1, RAB27A, CSF3R, ELANE, G6PC3, VPS45, GFI1 , (...)
View the complete list with 4 more genes
Specificity
5 %
Genes
100 % |
NEUTROPENIA, SEVERE CONGENITAL OR KOSTMANN SYNDROME (AUTOSOMAL RECESSIVE).
By Laboratorio de Genetica Clinica SL in Spain.
HAX1, CSF3R, G6PC3, VPS45, JAGN1
Specificity
20 %
Genes
100 % |
Alternate names
Neutropenia, Severe Congenital, 5, Autosomal Recessive; Scn5 Is also known as ;congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome; vps45 deficiency.
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