SCN2
MCID: NTR051
MIFTS: 29

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

Categories: Blood diseases, Bone diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Immune diseases, Infectious diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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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 28 5
Neutropenia, Severe Congenital 2, Autosomal Dominant 57 73
Neutropenia, Severe Congenital, Autosomal Dominant 2 12 71
Scn2 57 73
Neutropenia, Congenital, Severe, Type 2, Autosomal Dominant 38

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
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)


Classifications:



External Ids:

OMIM® 57 613107
OMIM Phenotypic Series 57 PS202700
MeSH 43 D009503
MedGen 40 C2751288
SNOMED-CT via HPO 69 165517008 19636003
UMLS 71 C2751288

Summaries for Neutropenia, Severe Congenital, 2, Autosomal Dominant

UniProtKB/Swiss-Prot: 73 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, also known as neutropenia, severe congenital 2, autosomal dominant, is related to severe congenital neutropenia 2. 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

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:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neutropenia 30 HP:0001875
2 b lymphocytopenia 30 HP:0010976
3 monocytosis 30 HP:0012311

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

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 Neutropenia, Severe Congenital, 2, Autosomal Dominant 28 GFI1

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

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

MalaCards : Neutrophil, T Cells, Monocytes, Bone Marrow, Bone, Brain
ODiseA: Blood And Bone Marrow

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. 57 5
20560965 2010
2
Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2. 57 5
12778173 2003
3
Inflammatory reactions and severe neutropenia in mice lacking the transcriptional repressor Gfi1. 57
11810106 2002
4
Chromosomal localization of a gene, GF1, encoding a novel zinc finger protein reveals a new syntenic region between man and rodents. 57
7789186 1995
5
Differential excitatory vs inhibitory SCN expression at single cell level regulates brain sodium channel function in neurodevelopmental disorders. 62
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. 62
31155258 2019
7
Interaction of the early 3d transition metals Sc, Ti, V, and Cr with N2: an ab initio study. 62
16542078 2006
8
Suppression by an h current of spontaneous Na+ action potentials in human cone and rod photoreceptors. 62
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. 62
15067524 2004
10
Suppression of a mitotic mutant by tRNA-Ala anticodon mutations that produce a dominant defect in late mitosis. 62
15126629 2004
11
Li3[ScN2]: the first nitridoscandate(III)-tetrahedral Sc coordination and unusual MX2 framework. 62
12953211 2003
12
Vesicle-associated membrane protein of Arabidopsis suppresses Bax-induced apoptosis in yeast downstream of oxidative burst. 62
11551960 2001
13
Bypassing anaphase by fission yeast cut9 mutation: requirement of cut9+ to initiate anaphase. 62
7798319 1994
14
Use of recombinant inbred strains for studying genetic determinants of responses to alcohol. 62
8974318 1994
15
Cytoprotective effect of NMDA receptor antagonists on prion protein (PrionSc)-induced toxicity in rat cortical cell cultures. 62
7901042 1993

Variations for Neutropenia, Severe Congenital, 2, Autosomal Dominant

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

5 (show top 50) (show all 162)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GFI1 NM_005263.5(GFI1):c.1145A>G (p.Asn382Ser) SNV Pathogenic
8739 rs28936381 GRCh37: 1:92941710-92941710
GRCh38: 1:92476153-92476153
2 GFI1 NM_005263.5(GFI1):c.1250C>T (p.Thr417Met) SNV Conflicting Interpretations Of Pathogenicity
801501 rs777241871 GRCh37: 1:92941605-92941605
GRCh38: 1:92476048-92476048
3 GFI1 NM_005263.5(GFI1):c.191C>A (p.Ala64Asp) SNV Uncertain Significance
834993 rs1658344685 GRCh37: 1:92948528-92948528
GRCh38: 1:92482971-92482971
4 GFI1 NM_005263.5(GFI1):c.49C>G (p.Gln17Glu) SNV Uncertain Significance
1040579 rs750251158 GRCh37: 1:92948996-92948996
GRCh38: 1:92483439-92483439
5 GFI1 NM_005263.5(GFI1):c.736A>G (p.Thr246Ala) SNV Uncertain Significance
1042613 rs764922701 GRCh37: 1:92946208-92946208
GRCh38: 1:92480651-92480651
6 GFI1 NM_005263.5(GFI1):c.494C>A (p.Ala165Asp) SNV Uncertain Significance
949284 rs773178468 GRCh37: 1:92946450-92946450
GRCh38: 1:92480893-92480893
7 GFI1 NM_005263.5(GFI1):c.52C>T (p.Pro18Ser) SNV Uncertain Significance
1030898 rs1658381767 GRCh37: 1:92948993-92948993
GRCh38: 1:92483436-92483436
8 GFI1 NC_000001.10:g.(?_92941566)_(92949064_?)del DEL Uncertain Significance
1042060 GRCh37: 1:92941566-92949064
GRCh38:
9 GFI1 NM_005263.5(GFI1):c.757G>A (p.Gly253Ser) SNV Uncertain Significance
1461345 GRCh37: 1:92946187-92946187
GRCh38: 1:92480630-92480630
10 GFI1 NM_005263.5(GFI1):c.208G>T (p.Ala70Ser) SNV Uncertain Significance
1487323 GRCh37: 1:92948511-92948511
GRCh38: 1:92482954-92482954
11 GFI1 NM_005263.5(GFI1):c.713A>G (p.Lys238Arg) SNV Uncertain Significance
1508738 GRCh37: 1:92946231-92946231
GRCh38: 1:92480674-92480674
12 GFI1 NM_005263.5(GFI1):c.233G>C (p.Ser78Thr) SNV Uncertain Significance
1517491 GRCh37: 1:92948486-92948486
GRCh38: 1:92482929-92482929
13 GFI1 NM_005263.5(GFI1):c.868G>C (p.Gly290Arg) SNV Uncertain Significance
1497955 GRCh37: 1:92945961-92945961
GRCh38: 1:92480404-92480404
14 GFI1 NM_005263.5(GFI1):c.532G>A (p.Gly178Arg) SNV Uncertain Significance
1348482 GRCh37: 1:92946412-92946412
GRCh38: 1:92480855-92480855
15 GFI1 NM_005263.5(GFI1):c.541G>A (p.Ala181Thr) SNV Uncertain Significance
1163738 GRCh37: 1:92946403-92946403
GRCh38: 1:92480846-92480846
16 GFI1 NM_005263.5(GFI1):c.461dup (p.Cys155fs) DUP Uncertain Significance
1045987 rs1658216855 GRCh37: 1:92946482-92946483
GRCh38: 1:92480925-92480926
17 GFI1 NM_005263.5(GFI1):c.938A>G (p.Asp313Gly) SNV Uncertain Significance
566000 rs376042061 GRCh37: 1:92944297-92944297
GRCh38: 1:92478740-92478740
18 GFI1 NM_005263.5(GFI1):c.682G>C (p.Gly228Arg) SNV Uncertain Significance
643828 rs779127899 GRCh37: 1:92946262-92946262
GRCh38: 1:92480705-92480705
19 GFI1 NM_005263.5(GFI1):c.796A>G (p.Thr266Ala) SNV Uncertain Significance
947502 rs1658175649 GRCh37: 1:92946033-92946033
GRCh38: 1:92480476-92480476
20 GFI1 NM_005263.5(GFI1):c.477G>A (p.Pro159=) SNV Uncertain Significance
581490 rs1249429892 GRCh37: 1:92946467-92946467
GRCh38: 1:92480910-92480910
21 GFI1 NM_005263.5(GFI1):c.603C>T (p.Gly201=) SNV Uncertain Significance
643429 rs1230474672 GRCh37: 1:92946341-92946341
GRCh38: 1:92480784-92480784
22 GFI1 NM_005263.5(GFI1):c.440G>T (p.Arg147Leu) SNV Uncertain Significance
644864 rs1367385969 GRCh37: 1:92946504-92946504
GRCh38: 1:92480947-92480947
23 GFI1 NM_005263.5(GFI1):c.854C>T (p.Ala285Val) SNV Uncertain Significance
644949 rs767464450 GRCh37: 1:92945975-92945975
GRCh38: 1:92480418-92480418
24 GFI1 NM_005263.5(GFI1):c.431C>G (p.Ala144Gly) SNV Uncertain Significance
435318 rs533176227 GRCh37: 1:92946513-92946513
GRCh38: 1:92480956-92480956
25 GFI1 NM_005263.5(GFI1):c.577G>T (p.Ala193Ser) SNV Uncertain Significance
1030899 rs765205557 GRCh37: 1:92946367-92946367
GRCh38: 1:92480810-92480810
26 GFI1 NM_005263.5(GFI1):c.210_221del (p.Ser71_Ser74del) DEL Uncertain Significance
1362512 GRCh37: 1:92948498-92948509
GRCh38: 1:92482941-92482952
27 GFI1 NM_005263.5(GFI1):c.617C>T (p.Ala206Val) SNV Uncertain Significance
1419937 GRCh37: 1:92946327-92946327
GRCh38: 1:92480770-92480770
28 GFI1 NM_005263.5(GFI1):c.528C>T (p.Gly176=) SNV Uncertain Significance
1413742 GRCh37: 1:92946416-92946416
GRCh38: 1:92480859-92480859
29 GFI1 NM_005263.5(GFI1):c.109C>G (p.Arg37Gly) SNV Uncertain Significance
1405692 GRCh37: 1:92948936-92948936
GRCh38: 1:92483379-92483379
30 GFI1 NM_005263.5(GFI1):c.1172C>T (p.Thr391Ile) SNV Uncertain Significance
1417552 GRCh37: 1:92941683-92941683
GRCh38: 1:92476126-92476126
31 GFI1 NM_005263.5(GFI1):c.837C>G (p.Ser279Arg) SNV Uncertain Significance
1365380 GRCh37: 1:92945992-92945992
GRCh38: 1:92480435-92480435
32 GFI1 NM_005263.5(GFI1):c.46C>T (p.His16Tyr) SNV Uncertain Significance
1422577 GRCh37: 1:92948999-92948999
GRCh38: 1:92483442-92483442
33 GFI1 NM_005263.5(GFI1):c.714G>T (p.Lys238Asn) SNV Uncertain Significance
1430464 GRCh37: 1:92946230-92946230
GRCh38: 1:92480673-92480673
34 GFI1 NM_005263.5(GFI1):c.484G>A (p.Gly162Ser) SNV Uncertain Significance
1462641 GRCh37: 1:92946460-92946460
GRCh38: 1:92480903-92480903
35 GFI1 NM_005263.5(GFI1):c.219C>G (p.Asp73Glu) SNV Uncertain Significance
1463313 GRCh37: 1:92948500-92948500
GRCh38: 1:92482943-92482943
36 GFI1 NM_005263.5(GFI1):c.347C>G (p.Pro116Arg) SNV Uncertain Significance
1463641 GRCh37: 1:92946597-92946597
GRCh38: 1:92481040-92481040
37 GFI1 NM_005263.5(GFI1):c.322T>C (p.Ser108Pro) SNV Uncertain Significance
1465189 GRCh37: 1:92946622-92946622
GRCh38: 1:92481065-92481065
38 GFI1 NM_005263.5(GFI1):c.835A>G (p.Ser279Gly) SNV Uncertain Significance
1473861 GRCh37: 1:92945994-92945994
GRCh38: 1:92480437-92480437
39 GFI1 NM_005263.5(GFI1):c.943A>G (p.Lys315Glu) SNV Uncertain Significance
1484041 GRCh37: 1:92944292-92944292
GRCh38: 1:92478735-92478735
40 GFI1 NM_005263.5(GFI1):c.1082T>C (p.Ile361Thr) SNV Uncertain Significance
1495351 GRCh37: 1:92944153-92944153
GRCh38: 1:92478596-92478596
41 GFI1 NM_005263.5(GFI1):c.533G>C (p.Gly178Ala) SNV Uncertain Significance
1501248 GRCh37: 1:92946411-92946411
GRCh38: 1:92480854-92480854
42 GFI1 NM_005263.5(GFI1):c.181C>G (p.Leu61Val) SNV Uncertain Significance
1515128 GRCh37: 1:92948538-92948538
GRCh38: 1:92482981-92482981
43 GFI1 NM_005263.5(GFI1):c.187G>A (p.Glu63Lys) SNV Uncertain Significance
1516040 GRCh37: 1:92948532-92948532
GRCh38: 1:92482975-92482975
44 GFI1 NM_005263.5(GFI1):c.201_221dup (p.Arg67_Asp73dup) DUP Uncertain Significance
1350265 GRCh37: 1:92948497-92948498
GRCh38: 1:92482940-92482941
45 GFI1 NM_005263.5(GFI1):c.534G>T (p.Gly178=) SNV Uncertain Significance
840261 rs1658207859 GRCh37: 1:92946410-92946410
GRCh38: 1:92480853-92480853
46 GFI1 NM_005263.5(GFI1):c.571G>A (p.Ala191Thr) SNV Uncertain Significance
840484 rs1426616222 GRCh37: 1:92946373-92946373
GRCh38: 1:92480816-92480816
47 GFI1 NM_005263.5(GFI1):c.74A>G (p.Tyr25Cys) SNV Uncertain Significance
864714 rs375422035 GRCh37: 1:92948971-92948971
GRCh38: 1:92483414-92483414
48 GFI1 NM_005263.5(GFI1):c.569G>C (p.Gly190Ala) SNV Uncertain Significance
943387 rs528437159 GRCh37: 1:92946375-92946375
GRCh38: 1:92480818-92480818
49 GFI1 NM_005263.5(GFI1):c.1076C>T (p.Thr359Ile) SNV Uncertain Significance
946598 rs1234266152 GRCh37: 1:92944159-92944159
GRCh38: 1:92478602-92478602
50 GFI1 NM_005263.5(GFI1):c.797C>T (p.Thr266Met) SNV Uncertain Significance
949003 rs1658175470 GRCh37: 1:92946032-92946032
GRCh38: 1:92480475-92480475

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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72 UMLS via Orphanet
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