SCN2
MCID: NTR051
MIFTS: 25

Neutropenia, Severe Congenital, 2, Autosomal Dominant (SCN2)

Categories: Blood diseases, Bone diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neutropenia, Severe Congenital, 2, Autosomal Dominant

MalaCards integrated aliases for Neutropenia, Severe Congenital, 2, Autosomal Dominant:

Name: Neutropenia, Severe Congenital, 2, Autosomal Dominant 56
Neutropenia, Severe Congenital 2, Autosomal Dominant 56 73 13
Severe Congenital Neutropenia 2, Autosomal Dominant 29 6
Scn2 56 73
Neutropenia, Congenital, Severe, Type 2, Autosomal Dominant 39
Neutropenia, Severe Congenital, Autosomal Dominant 2 71

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
neutropenia, severe congenital, 2, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 613107
OMIM Phenotypic Series 56 PS202700
MeSH 43 D009503
MedGen 41 C2751288
SNOMED-CT via HPO 68 165517008 19636003 263681008
UMLS 71 C2751288

Summaries for Neutropenia, Severe Congenital, 2, Autosomal Dominant

UniProtKB/Swiss-Prot : 73 Neutropenia, severe congenital 2, autosomal dominant: A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections.

MalaCards based summary : Neutropenia, Severe Congenital, 2, Autosomal Dominant, is also known as neutropenia, severe congenital 2, autosomal dominant. An important gene associated with Neutropenia, Severe Congenital, 2, Autosomal Dominant is GFI1 (Growth Factor Independent 1 Transcriptional Repressor). Affiliated tissues include neutrophil, monocytes and brain, and related phenotypes are neutropenia and b lymphocytopenia

More information from OMIM: 613107 PS202700

Symptoms & Phenotypes for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Human phenotypes related to Neutropenia, Severe Congenital, 2, Autosomal Dominant:

31
# Description HPO Frequency HPO Source Accession
1 neutropenia 31 HP:0001875
2 b lymphocytopenia 31 HP:0010976
3 monocytosis 31 HP:0012311

Symptoms via clinical synopsis from OMIM:

56
Immunology:
elevated monocytes
low neutrophil number
immature neutrophils
immature monocytes
reduced absolute cell number of cd4 t lymphocytes
more

Clinical features from OMIM:

613107

Drugs & Therapeutics for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Genetic Tests for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Genetic tests related to Neutropenia, Severe Congenital, 2, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Severe Congenital Neutropenia 2, Autosomal Dominant 29 GFI1

Anatomical Context for Neutropenia, Severe Congenital, 2, Autosomal Dominant

MalaCards organs/tissues related to Neutropenia, Severe Congenital, 2, Autosomal Dominant:

40
Neutrophil, Monocytes, Brain, T Cells, Bone

Publications for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Articles related to Neutropenia, Severe Congenital, 2, Autosomal Dominant:

(show all 15)
# Title Authors PMID Year
1
Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2. 56 6
12778173 2003
2
Cyclic neutropenia associated with T cell immunity to granulocyte proteases and a double de novo mutation in GFI1, a transcriptional regulator of ELANE. 56
20560965 2010
3
Inflammatory reactions and severe neutropenia in mice lacking the transcriptional repressor Gfi1. 56
11810106 2002
4
Chromosomal localization of a gene, GF1, encoding a novel zinc finger protein reveals a new syntenic region between man and rodents. 56
7789186 1995
5
Differential excitatory vs inhibitory SCN expression at single cell level regulates brain sodium channel function in neurodevelopmental disorders. 61
31928904 2019
6
Reliability of breeding values for feed intake and feed efficiency traits in dairy cattle: When dry matter intake recordings are sparse under different scenarios. 61
31155258 2019
7
Interaction of the early 3d transition metals Sc, Ti, V, and Cr with N2: an ab initio study. 61
16542078 2006
8
Suppression by an h current of spontaneous Na+ action potentials in human cone and rod photoreceptors. 61
15623800 2005
9
Structure-activity relationships in platinum-acridinylthiourea conjugates: effect of the thiourea nonleaving group on drug stability, nucleobase affinity, and in vitro cytotoxicity. 61
15067524 2004
10
Suppression of a mitotic mutant by tRNA-Ala anticodon mutations that produce a dominant defect in late mitosis. 61
15126629 2004
11
Li3[ScN2]: the first nitridoscandate(III)-tetrahedral Sc coordination and unusual MX2 framework. 61
12953211 2003
12
Vesicle-associated membrane protein of Arabidopsis suppresses Bax-induced apoptosis in yeast downstream of oxidative burst. 61
11551960 2001
13
Bypassing anaphase by fission yeast cut9 mutation: requirement of cut9+ to initiate anaphase. 61
7798319 1994
14
Use of recombinant inbred strains for studying genetic determinants of responses to alcohol. 61
8974318 1994
15
Cytoprotective effect of NMDA receptor antagonists on prion protein (PrionSc)-induced toxicity in rat cortical cell cultures. 61
7901042 1993

Variations for Neutropenia, Severe Congenital, 2, Autosomal Dominant

ClinVar genetic disease variations for Neutropenia, Severe Congenital, 2, Autosomal Dominant:

6 (show all 15) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GFI1 NM_005263.5(GFI1):c.1145A>G (p.Asn382Ser)SNV Pathogenic 8739 rs28936381 1:92941710-92941710 1:92476153-92476153
2 GFI1 NM_005263.5(GFI1):c.925-40CT[22]short repeat Conflicting interpretations of pathogenicity 298180 rs35896485 1:92944314-92944315 1:92478757-92478758
3 GFI1 NM_005263.5(GFI1):c.431C>G (p.Ala144Gly)SNV Uncertain significance 435318 rs533176227 1:92946513-92946513 1:92480956-92480956
4 GFI1 NM_005263.5(GFI1):c.477G>A (p.Pro159=)SNV Uncertain significance 581490 rs1249429892 1:92946467-92946467 1:92480910-92480910
5 GFI1 NM_005263.5(GFI1):c.938A>G (p.Asp313Gly)SNV Uncertain significance 566000 rs376042061 1:92944297-92944297 1:92478740-92478740
6 GFI1 NM_005263.5(GFI1):c.854C>T (p.Ala285Val)SNV Uncertain significance 644949 1:92945975-92945975 1:92480418-92480418
7 GFI1 NM_005263.5(GFI1):c.682G>C (p.Gly228Arg)SNV Uncertain significance 643828 1:92946262-92946262 1:92480705-92480705
8 GFI1 NM_005263.5(GFI1):c.603C>T (p.Gly201=)SNV Uncertain significance 643429 1:92946341-92946341 1:92480784-92480784
9 GFI1 NM_005263.5(GFI1):c.440G>T (p.Arg147Leu)SNV Uncertain significance 644864 1:92946504-92946504 1:92480947-92480947
10 GFI1 NM_005263.5(GFI1):c.1250C>T (p.Thr417Met)SNV Likely benign 801501 1:92941605-92941605 1:92476048-92476048
11 GFI1 NM_005263.5(GFI1):c.-100+686C>ASNV Likely benign 801502 1:92951597-92951597 1:92486040-92486040
12 GFI1 NM_005263.5(GFI1):c.1208A>G (p.Lys403Arg)SNV Likely benign 8740 rs28936382 1:92941647-92941647 1:92476090-92476090
13 GFI1 NM_005263.5(GFI1):c.1047C>T (p.Phe349=)SNV Benign/Likely benign 259698 rs80337126 1:92944188-92944188 1:92478631-92478631
14 GFI1 NM_005263.5(GFI1):c.-14A>CSNV Benign/Likely benign 538142 rs200972824 1:92949058-92949058 1:92483501-92483501
15 GFI1 NM_005263.5(GFI1):c.107G>A (p.Ser36Asn)SNV Benign 259699 rs34631763 1:92948938-92948938 1:92483381-92483381

UniProtKB/Swiss-Prot genetic disease variations for Neutropenia, Severe Congenital, 2, Autosomal Dominant:

73
# Symbol AA change Variation ID SNP ID
1 GFI1 p.Asn382Ser VAR_016212 rs28936381

Expression for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Search GEO for disease gene expression data for Neutropenia, Severe Congenital, 2, Autosomal Dominant.

Pathways for Neutropenia, Severe Congenital, 2, Autosomal Dominant

GO Terms for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Sources for Neutropenia, Severe Congenital, 2, Autosomal Dominant

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