SCN2
MCID: NTR051
MIFTS: 25

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

Categories: Blood diseases, Bone diseases, Cancer diseases, Genetic diseases, Immune 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 57
Neutropenia, Severe Congenital 2, Autosomal Dominant 57 74 13
Severe Congenital Neutropenia 2, Autosomal Dominant 29 6
Scn2 57 74
Neutropenia, Congenital, Severe, Type 2, Autosomal Dominant 40
Neutropenia, Severe Congenital, Autosomal Dominant 2 72

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
neutropenia, severe congenital, 2, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

MeSH 44 D009503
MedGen 42 C2751288
UMLS 72 C2751288

Summaries for Neutropenia, Severe Congenital, 2, Autosomal Dominant

UniProtKB/Swiss-Prot : 74 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 and monocytes, and related phenotypes are neutropenia and b lymphocytopenia

More information from OMIM: 613107 PS202700

Related Diseases for Neutropenia, Severe Congenital, 2, Autosomal Dominant

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

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

32
# Description HPO Frequency HPO Source Accession
1 neutropenia 32 HP:0001875
2 b lymphocytopenia 32 HP:0010976
3 monocytosis 32 HP:0012311

Symptoms via clinical synopsis from OMIM:

57
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:

41
Neutrophil, Monocytes

Publications for Neutropenia, Severe Congenital, 2, Autosomal Dominant

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

(show all 13)
# Title Authors PMID Year
1
Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2. 8 71
12778173 2003
2
Inflammatory reactions and severe neutropenia in mice lacking the transcriptional repressor Gfi1. 8
11810106 2002
3
Chromosomal localization of a gene, GF1, encoding a novel zinc finger protein reveals a new syntenic region between man and rodents. 8
7789186 1995
4
Reliability of breeding values for feed intake and feed efficiency traits in dairy cattle: When dry matter intake recordings are sparse under different scenarios. 38
31155258 2019
5
Interaction of the early 3d transition metals Sc, Ti, V, and Cr with N2: an ab initio study. 38
16542078 2006
6
Suppression by an h current of spontaneous Na+ action potentials in human cone and rod photoreceptors. 38
15623800 2005
7
Structure-activity relationships in platinum-acridinylthiourea conjugates: effect of the thiourea nonleaving group on drug stability, nucleobase affinity, and in vitro cytotoxicity. 38
15067524 2004
8
Suppression of a mitotic mutant by tRNA-Ala anticodon mutations that produce a dominant defect in late mitosis. 38
15126629 2004
9
Li3[ScN2]: the first nitridoscandate(III)-tetrahedral Sc coordination and unusual MX2 framework. 38
12953211 2003
10
Vesicle-associated membrane protein of Arabidopsis suppresses Bax-induced apoptosis in yeast downstream of oxidative burst. 38
11551960 2001
11
Bypassing anaphase by fission yeast cut9 mutation: requirement of cut9+ to initiate anaphase. 38
7798319 1994
12
Use of recombinant inbred strains for studying genetic determinants of responses to alcohol. 38
8974318 1994
13
Cytoprotective effect of NMDA receptor antagonists on prion protein (PrionSc)-induced toxicity in rat cortical cell cultures. 38
7901042 1993

Variations for Neutropenia, Severe Congenital, 2, Autosomal Dominant

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

6 (show all 28)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GFI1 NM_005263.5(GFI1): c.1145A> G (p.Asn382Ser) single nucleotide variant Pathogenic rs28936381 1:92941710-92941710 1:92476153-92476153
2 GFI1 NM_005263.3(GFI1): c.925-8_925-5delCTCT deletion Conflicting interpretations of pathogenicity rs35896485 1:92944315-92944318 1:92478758-92478761
3 GFI1 NM_005263.3(GFI1): c.925-14_925-5delCTCTCTCTCT deletion Conflicting interpretations of pathogenicity rs35896485 1:92944315-92944324 1:92478758-92478767
4 GFI1 NM_005263.3(GFI1): c.925-18_925-5dupCTCTCTCTCTCTCT duplication Conflicting interpretations of pathogenicity rs35896485 1:92944315-92944328 1:92478758-92478771
5 GFI1 NM_005263.3(GFI1): c.925-12_925-5dupCTCTCTCT duplication Conflicting interpretations of pathogenicity rs35896485 1:92944315-92944322 1:92478758-92478765
6 GFI1 NM_005263.3(GFI1): c.925-14_925-5dupCTCTCTCTCT duplication Conflicting interpretations of pathogenicity rs35896485 1:92944315-92944324 1:92478758-92478767
7 GFI1 NM_005263.5(GFI1): c.477G> A (p.Pro159=) single nucleotide variant Uncertain significance 1:92946467-92946467 1:92480910-92480910
8 GFI1 NM_005263.5(GFI1): c.938A> G (p.Asp313Gly) single nucleotide variant Uncertain significance 1:92944297-92944297 1:92478740-92478740
9 GFI1 NM_005263.5(GFI1): c.854C> T (p.Ala285Val) single nucleotide variant Uncertain significance 1:92945975-92945975 1:92480418-92480418
10 GFI1 NM_005263.5(GFI1): c.682G> C (p.Gly228Arg) single nucleotide variant Uncertain significance 1:92946262-92946262 1:92480705-92480705
11 GFI1 NM_005263.5(GFI1): c.603C> T (p.Gly201=) single nucleotide variant Uncertain significance 1:92946341-92946341 1:92480784-92480784
12 GFI1 NM_005263.5(GFI1): c.440G> T (p.Arg147Leu) single nucleotide variant Uncertain significance 1:92946504-92946504 1:92480947-92480947
13 GFI1 NM_005263.5(GFI1): c.772A> G (p.Ile258Val) single nucleotide variant Uncertain significance rs755193129 1:92946172-92946172 1:92480615-92480615
14 GFI1 NM_005263.5(GFI1): c.431C> G (p.Ala144Gly) single nucleotide variant Uncertain significance rs533176227 1:92946513-92946513 1:92480956-92480956
15 GFI1 NM_005263.5(GFI1): c.319C> G (p.Pro107Ala) single nucleotide variant Likely benign rs149914857 1:92946625-92946625 1:92481068-92481068
16 GFI1 NM_005263.5(GFI1): c.1032C> T (p.Tyr344=) single nucleotide variant Likely benign rs139144506 1:92944203-92944203 1:92478646-92478646
17 GFI1 NM_005263.5(GFI1): c.804C> T (p.His268=) single nucleotide variant Likely benign rs376949976 1:92946025-92946025 1:92480468-92480468
18 GFI1 NM_005263.5(GFI1): c.168C> T (p.Ser56=) single nucleotide variant Benign/Likely benign rs143913803 1:92948551-92948551 1:92482994-92482994
19 GFI1 NM_005263.5(GFI1): c.792C> T (p.Phe264=) single nucleotide variant Benign/Likely benign rs114487177 1:92946037-92946037 1:92480480-92480480
20 GFI1 NM_005263.5(GFI1): c.1047C> T (p.Phe349=) single nucleotide variant Benign/Likely benign rs80337126 1:92944188-92944188 1:92478631-92478631
21 GFI1 NM_005263.5(GFI1): c.718G> C (p.Glu240Gln) single nucleotide variant Benign/Likely benign rs6666973 1:92946226-92946226 1:92480669-92480669
22 GFI1 NM_005263.5(GFI1): c.648A> G (p.Ala216=) single nucleotide variant Benign rs114464352 1:92946296-92946296 1:92480739-92480739
23 GFI1 NM_005263.5(GFI1): c.1198C> T (p.Leu400Phe) single nucleotide variant Benign rs143708376 1:92941657-92941657 1:92476100-92476100
24 GFI1 NM_005263.4(GFI1): c.925-12_925-5delCTCTCTCT deletion Benign rs35896485 1:92944315-92944322 1:92478758-92478765
25 GFI1 NM_005263.5(GFI1): c.483T> C (p.Pro161=) single nucleotide variant Benign rs374062963 1:92946461-92946461 1:92480904-92480904
26 GFI1 NM_005263.5(GFI1): c.107G> A (p.Ser36Asn) single nucleotide variant Benign rs34631763 1:92948938-92948938 1:92483381-92483381
27 GFI1 NM_005263.5(GFI1): c.-14A> C single nucleotide variant Benign rs200972824 1:92949058-92949058 1:92483501-92483501
28 GFI1 NM_005263.4(GFI1): c.925-20_925-5dup duplication Benign rs35896485 1:92944315-92944330 1:92478758-92478773

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

74
# 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

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