SCN2
MCID: NTR051
MIFTS: 26

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

Miscellaneous:
variable phenotype
some patients may have cyclic neutropenia
one family and 1 unrelated patient with sporadic disease have been reported (last curated february 2020)


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, t cells and monocytes, 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 (in some patients)
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, T Cells, Monocytes, Brain

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
Cyclic neutropenia associated with T cell immunity to granulocyte proteases and a double de novo mutation in GFI1, a transcriptional regulator of ELANE. 56 6
20560965 2010
2
Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2. 56 6
12778173 2003
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 2020
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 42) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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[23]short repeat Conflicting interpretations of pathogenicity 298183 rs35896485 1:92944314-92944315 1:92478757-92478758
3 GFI1 NM_005263.5(GFI1):c.925-40CT[16]short repeat Conflicting interpretations of pathogenicity 298184 rs35896485 1:92944315-92944318 1:92478758-92478761
4 GFI1 NM_005263.5(GFI1):c.925-40CT[13]short repeat Conflicting interpretations of pathogenicity 298186 rs35896485 1:92944315-92944324 1:92478758-92478767
5 GFI1 NM_005263.5(GFI1):c.925-40CT[25]short repeat Conflicting interpretations of pathogenicity 298181 rs35896485 1:92944314-92944315 1:92478757-92478758
6 GFI1 NM_005263.5(GFI1):c.925-40CT[22]short repeat Conflicting interpretations of pathogenicity 298180 rs35896485 1:92944314-92944315 1:92478757-92478758
7 GFI1 NM_005263.5(GFI1):c.571G>A (p.Ala191Thr)SNV Uncertain significance 840484 1:92946373-92946373 1:92480816-92480816
8 GFI1 NM_005263.5(GFI1):c.534G>T (p.Gly178=)SNV Uncertain significance 840261 1:92946410-92946410 1:92480853-92480853
9 GFI1 NM_005263.5(GFI1):c.191C>A (p.Ala64Asp)SNV Uncertain significance 834993 1:92948528-92948528 1:92482971-92482971
10 GFI1 NM_005263.5(GFI1):c.74A>G (p.Tyr25Cys)SNV Uncertain significance 864714 1:92948971-92948971 1:92483414-92483414
11 GFI1 NM_005263.5(GFI1):c.431C>G (p.Ala144Gly)SNV Uncertain significance 435318 rs533176227 1:92946513-92946513 1:92480956-92480956
12 GFI1 NM_005263.5(GFI1):c.477G>A (p.Pro159=)SNV Uncertain significance 581490 rs1249429892 1:92946467-92946467 1:92480910-92480910
13 GFI1 NM_005263.5(GFI1):c.938A>G (p.Asp313Gly)SNV Uncertain significance 566000 rs376042061 1:92944297-92944297 1:92478740-92478740
14 GFI1 NM_005263.5(GFI1):c.854C>T (p.Ala285Val)SNV Uncertain significance 644949 1:92945975-92945975 1:92480418-92480418
15 GFI1 NM_005263.5(GFI1):c.682G>C (p.Gly228Arg)SNV Uncertain significance 643828 1:92946262-92946262 1:92480705-92480705
16 GFI1 NM_005263.5(GFI1):c.603C>T (p.Gly201=)SNV Uncertain significance 643429 1:92946341-92946341 1:92480784-92480784
17 GFI1 NM_005263.5(GFI1):c.440G>T (p.Arg147Leu)SNV Uncertain significance 644864 1:92946504-92946504 1:92480947-92480947
18 GFI1 NM_005263.5(GFI1):c.498G>A (p.Ala166=)SNV Likely benign 721524 1:92946446-92946446 1:92480889-92480889
19 GFI1 NM_005263.5(GFI1):c.83G>A (p.Arg28His)SNV Likely benign 724166 1:92948962-92948962 1:92483405-92483405
20 GFI1 NM_005263.5(GFI1):c.1250C>T (p.Thr417Met)SNV Likely benign 801501 1:92941605-92941605 1:92476048-92476048
21 GFI1 NM_005263.5(GFI1):c.-100+686C>ASNV Likely benign 801502 1:92951597-92951597 1:92486040-92486040
22 GFI1 NM_005263.5(GFI1):c.1208A>G (p.Lys403Arg)SNV Likely benign 8740 rs28936382 1:92941647-92941647 1:92476090-92476090
23 GFI1 NM_005263.5(GFI1):c.1032C>T (p.Tyr344=)SNV Likely benign 298178 rs139144506 1:92944203-92944203 1:92478646-92478646
24 GFI1 NM_005263.5(GFI1):c.319C>G (p.Pro107Ala)SNV Likely benign 259703 rs149914857 1:92946625-92946625 1:92481068-92481068
25 GFI1 NM_005263.5(GFI1):c.168C>T (p.Ser56=)SNV Benign/Likely benign 259702 rs143913803 1:92948551-92948551 1:92482994-92482994
26 GFI1 NM_005263.5(GFI1):c.792C>T (p.Phe264=)SNV Benign/Likely benign 298188 rs114487177 1:92946037-92946037 1:92480480-92480480
27 GFI1 NM_005263.5(GFI1):c.1047C>T (p.Phe349=)SNV Benign/Likely benign 259698 rs80337126 1:92944188-92944188 1:92478631-92478631
28 GFI1 NM_005263.5(GFI1):c.718G>C (p.Glu240Gln)SNV Benign/Likely benign 259705 rs6666973 1:92946226-92946226 1:92480669-92480669
29 GFI1 NM_005263.5(GFI1):c.-14A>CSNV Benign/Likely benign 538142 rs200972824 1:92949058-92949058 1:92483501-92483501
30 GFI1 NM_005263.5(GFI1):c.1188C>T (p.Phe396=)SNV Benign/Likely benign 298177 rs374783582 1:92941667-92941667 1:92476110-92476110
31 GFI1 NM_005263.5(GFI1):c.925-40CT[26]short repeat Benign 538141 rs35896485 1:92944314-92944315 1:92478757-92478758
32 GFI1 NM_005263.5(GFI1):c.925-40CT[12]short repeat Benign 722828 1:92944315-92944326 1:92478758-92478769
33 GFI1 NM_005263.5(GFI1):c.1239G>A (p.Arg413=)SNV Benign 759202 1:92941616-92941616 1:92476059-92476059
34 GFI1 NM_005263.5(GFI1):c.925-40CT[24]short repeat Benign 770490 1:92944314-92944315 1:92478757-92478758
35 GFI1 NM_005263.5(GFI1):c.925-40CT[27]short repeat Benign 788327 1:92944314-92944315 1:92478757-92478758
36 GFI1 NM_005263.5(GFI1):c.925-5_925-4insCTCTCTCTCCinsertion Benign 800061 1:92944314-92944315 1:92478757-92478758
37 GFI1 NM_005263.5(GFI1):c.1245G>C (p.Arg415=)SNV Benign 733198 1:92941610-92941610 1:92476053-92476053
38 GFI1 NM_005263.5(GFI1):c.1198C>T (p.Leu400Phe)SNV Benign 470694 rs143708376 1:92941657-92941657 1:92476100-92476100
39 GFI1 NM_005263.5(GFI1):c.925-40CT[14]short repeat Benign 470696 rs35896485 1:92944315-92944322 1:92478758-92478765
40 GFI1 NM_005263.5(GFI1):c.483T>C (p.Pro161=)SNV Benign 470695 rs374062963 1:92946461-92946461 1:92480904-92480904
41 GFI1 NM_005263.5(GFI1):c.648A>G (p.Ala216=)SNV Benign 259704 rs114464352 1:92946296-92946296 1:92480739-92480739
42 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

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Pathways for Neutropenia, Severe Congenital, 2, Autosomal Dominant

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

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