Neutropenia, Severe Congenital, 6, Autosomal Recessive; Scn6

  Similar diseases  

Genes related to Neutropenia, Severe Congenital, 6, Autosomal Recessive; Scn6

  • JAGN1

Clinical Features

Phenotypes and symptoms related to Neutropenia, Severe Congenital, 6, Autosomal Recessive; Scn6

  • Recurrent bacterial infections
  • Recurrent otitis media
  • Neutropenia
  • Recurrent respiratory infections
  • Failure to thrive
  • Short stature
  • Autosomal recessive inheritance

Incidence and onset information

Not enough data available about incidence and published cases.

Neutropenia, Severe Congenital, 6, Autosomal Recessive; Scn6 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
JAGN1 Sequencing.

JAGN1
Specificity
100 %
Genes
100 %
Compare panel coverage
Severe congenital neutropenia (NGS panel for 7 genes).

HAX1, GFI1, VPS45, G6PC3, ELANE, JAGN1, WAS
Specificity
15 %
Genes
100 %
Compare panel coverage
Hereditary neutropenia (NGS panel for 22 genes).

VPS45, TAZ, GFI1, GATA1, HAX1, CSF3R, RAC2, USB1, WAS, GATA2, LAMTOR2, VPS13B, JAGN1, SBDS, AP3B1, SLC37A4, G6PC3, CXCR4, ELANE, WIPF1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Compare panel coverage
CentoICU platinum plus.

ADA, SOX6, INS, KRAS, HNF1A, DNA2, SLC2A1, GNAS, WT1, F5, IL2, NPC1, FGFR2, HBB, LAMB3, ACADL, AIFM1, RET, F9, FBN1 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage
CentoICU platinum.

ADA, SOX6, INS, KRAS, HNF1A, DNA2, SLC2A1, GNAS, WT1, F5, IL2, NPC1, FGFR2, HBB, LAMB3, ACADL, AIFM1, RET, F9, FBN1 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage
Neutropenia, severe congenital type 6, autosomal recessive.

JAGN1
Specificity
100 %
Genes
100 %
Compare panel coverage
Defects of phagocytosis Panel.

GATA1, SLC35C1, RAC2, BLOC1S3, ACKR1, CTSC, CSF3R, CSF2RA, VPS45, TCIRG1, TAZ, TERT, MYO5A, IFNGR1, IFNGR2, GFI1, HAX1, HPS3, HPS5, DTNBP1 , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Compare panel coverage
Single gene testing JAGN1.

JAGN1
Specificity
100 %
Genes
100 %
Compare panel coverage
Invitae Primary Immunodeficiency Panel.

DCLRE1B, CASP10, TNFSF12, FPR1, GFI1, VPS45, CSF2RA, TPP2, HAX1, NFAT5, TERT, SEMA3E, CSF3R, RTEL1, IL2RG, B2M, RHOH, MAGT1, CARD11, ZAP70 , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage
Invitae Phagocyte Defects Panel.

G6PD, FPR1, CSF2RA, GFI1, VPS45, HAX1, CSF3R, SLC35C1, PMM2, CTSC, SPINK5, FERMT3, TAZ, ITGB2, JAGN1, G6PC3, SLC37A4, CYBB, NCF4, WAS , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Compare panel coverage
Neutropenia.

HAX1, CSF3R, VPS45, GFI1, RAC2, G6PC3, WAS, JAGN1, ELANE
Specificity
12 %
Genes
100 %
Compare panel coverage
JAGN1.

JAGN1
Specificity
100 %
Genes
100 %
Compare panel coverage
Congenital Neutropenia Panel.

CTSC, HAX1, IFNGR2, TCIRG1, CSF2RA, ACTB, ELANE, G6PC3, GATA2, SBDS, LYST, WAS, JAGN1
Specificity
8 %
Genes
100 %
Compare panel coverage
Primary Immunodeficiency Panel.

AK2, ADIPOQ, ADIPOR1, ADA, ADIPOR2, ATM, CASP10, CD3D, CTSC, CD40, OFD1, SERPING1, C4BPB, CD3E, CFD, CCNO, DOCK2, C1QC, C1S, C5 , (...)

View the complete list with 212 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage
Comprehensive Hematology Panel.

ABCA3, ADAMTS13, MTR, AK2, ANK1, ANKRD26, ATRX, ATM, BRCA2, BLOC1S3, BRIP1, CTSC, F5, F9, DKC1, DTNBP1, CDKN2A, F13A1, GATA1, HAX1 , (...)

View the complete list with 155 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage
Bone Marrow Failure Syndrome Panel.

AK2, ATM, BRCA2, BLOC1S3, BRIP1, CTSC, DKC1, DTNBP1, CDKN2A, GATA1, HAX1, FANCB, MYO5A, MSH6, NBN, HPS5, IFNGR2, MLH1, MSH2, NOP10 , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
100 %
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Severe Congenital Neutropenia Gene Set.

KRAS, NRAS, VPS45, CSF3R, GFI1, TAZ, TCIRG1, RUNX1, HAX1, LYST, CXCR2, G6PC3, GATA2, SLC37A4, VPS13B, CXCR4, RAB27A, USB1, WAS, SBDS , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Compare panel coverage
NEUTROPENIA, SEVERE CONGENITAL OR KOSTMANN SYNDROME (AUTOSOMAL RECESSIVE).

HAX1, CSF3R, VPS45, G6PC3, JAGN1
Specificity
20 %
Genes
100 %
Compare panel coverage

Sources

ORPHANET OMIM

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