Neutropenia, Severe Congenital, 2, Autosomal Dominant disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

SCN2 MCID: NTR051 MIFTS: 21	Neutropenia, Severe Congenital, 2, Autosomal Dominant (SCN2) Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Symptoms & Phenotypes Expand all tables

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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 ⁵⁸

Neutropenia, Severe Congenital 2, Autosomal Dominant ⁵⁸ ⁷⁶ ¹³

Severe Congenital Neutropenia 2, Autosomal Dominant ³⁰ ⁶

Scn2 ⁵⁸ ⁷⁶

Neutropenia, Congenital, Severe, Type 2, Autosomal Dominant ⁴¹

Neutropenia, Severe Congenital, Autosomal Dominant 2 ⁷⁴

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal dominant

HPO:

³³

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

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Immune diseases Bone diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 613107

MeSH ⁴⁵ D009503

MedGen ⁴³ C2751288

SNOMED-CT via HPO ⁷⁰ 165517008 19636003 263681008

UMLS ⁷⁴ C2751288

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Summaries for Neutropenia, Severe Congenital, 2, Autosomal Dominant

UniProtKB/Swiss-Prot : ⁷⁶ 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

Description from OMIM: 613107

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

Diseases in the Neutropenia family:

Neutropenia, Chronic Familial	Neutropenia, Severe Congenital, 1, Autosomal Dominant
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia, Severe Congenital, 7, Autosomal Recessive
Severe Congenital Neutropenia	Elane-Related Neutropenia
Severe Congenital Neutropenia Autosomal Dominant

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

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

³³

#	Description	HPO Source Accession
1	neutropenia ³³	HP:0001875
2	b lymphocytopenia ³³	HP:0010976
3	monocytosis ³³	HP:0012311

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

Clinical features from OMIM:

613107

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

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Online Study of Individuals With Genetic Changes and Features of Autism: Simons Variation in Individuals Project (Simons VIP)	Recruiting	NCT01238250

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

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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 ³⁰	GFI1

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

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

⁴²

Neutrophil, Monocytes

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Publications for Neutropenia, Severe Congenital, 2, Autosomal Dominant

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Genes for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Genes related to Neutropenia, Severe Congenital, 2, Autosomal Dominant (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GFI1	Growth Factor Independent 1 Transcriptional Repressor	Protein Coding	1377.66	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ Unconfirmed association ⁵⁸ GeneCards inferred via : Disorders Variants (show sections)	12778173

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Variations for Neutropenia, Severe Congenital, 2, Autosomal Dominant

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

⁷⁶

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

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

⁶ (show all 46)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	GFI1	NM_005263.3(GFI1): c.1145A> G (p.Asn382Ser)	single nucleotide variant	Pathogenic	rs28936381	GRCh37	Chromosome 1, 92941710: 92941710
2	GFI1	NM_005263.3(GFI1): c.1145A> G (p.Asn382Ser)	single nucleotide variant	Pathogenic	rs28936381	GRCh38	Chromosome 1, 92476153: 92476153
3	GFI1	NM_005263.3(GFI1): c.1047C> T (p.Phe349=)	single nucleotide variant	Benign/Likely benign	rs80337126	GRCh38	Chromosome 1, 92478631: 92478631
4	GFI1	NM_005263.3(GFI1): c.1047C> T (p.Phe349=)	single nucleotide variant	Benign/Likely benign	rs80337126	GRCh37	Chromosome 1, 92944188: 92944188
5	GFI1	NM_005263.3(GFI1): c.718G> C (p.Glu240Gln)	single nucleotide variant	Benign/Likely benign	rs6666973	GRCh38	Chromosome 1, 92480669: 92480669
6	GFI1	NM_005263.3(GFI1): c.718G> C (p.Glu240Gln)	single nucleotide variant	Benign/Likely benign	rs6666973	GRCh37	Chromosome 1, 92946226: 92946226
7	GFI1	NM_005263.3(GFI1): c.648A> G (p.Ala216=)	single nucleotide variant	Benign	rs114464352	GRCh38	Chromosome 1, 92480739: 92480739
8	GFI1	NM_005263.3(GFI1): c.648A> G (p.Ala216=)	single nucleotide variant	Benign	rs114464352	GRCh37	Chromosome 1, 92946296: 92946296
9	GFI1	NM_005263.3(GFI1): c.319C> G (p.Pro107Ala)	single nucleotide variant	Likely benign	rs149914857	GRCh38	Chromosome 1, 92481068: 92481068
10	GFI1	NM_005263.3(GFI1): c.319C> G (p.Pro107Ala)	single nucleotide variant	Likely benign	rs149914857	GRCh37	Chromosome 1, 92946625: 92946625
11	GFI1	NM_005263.3(GFI1): c.168C> T (p.Ser56=)	single nucleotide variant	Benign/Likely benign	rs143913803	GRCh37	Chromosome 1, 92948551: 92948551
12	GFI1	NM_005263.3(GFI1): c.168C> T (p.Ser56=)	single nucleotide variant	Benign/Likely benign	rs143913803	GRCh38	Chromosome 1, 92482994: 92482994
13	GFI1	NM_005263.3(GFI1): c.107G> A (p.Ser36Asn)	single nucleotide variant	Benign	rs34631763	GRCh38	Chromosome 1, 92483381: 92483381
14	GFI1	NM_005263.3(GFI1): c.107G> A (p.Ser36Asn)	single nucleotide variant	Benign	rs34631763	GRCh37	Chromosome 1, 92948938: 92948938
15	GFI1	NM_005263.3(GFI1): c.925-14_925-5dupCTCTCTCTCT	duplication	Conflicting interpretations of pathogenicity	rs35896485	GRCh38	Chromosome 1, 92478758: 92478767
16	GFI1	NM_005263.3(GFI1): c.925-14_925-5dupCTCTCTCTCT	duplication	Conflicting interpretations of pathogenicity	rs35896485	GRCh37	Chromosome 1, 92944315: 92944324
17	GFI1	NM_005263.3(GFI1): c.1032C> T (p.Tyr344=)	single nucleotide variant	Likely benign	rs139144506	GRCh38	Chromosome 1, 92478646: 92478646
18	GFI1	NM_005263.3(GFI1): c.1032C> T (p.Tyr344=)	single nucleotide variant	Likely benign	rs139144506	GRCh37	Chromosome 1, 92944203: 92944203
19	GFI1	NM_005263.3(GFI1): c.925-8_925-5delCTCT	deletion	Conflicting interpretations of pathogenicity	rs35896485	GRCh38	Chromosome 1, 92478758: 92478761
20	GFI1	NM_005263.3(GFI1): c.925-8_925-5delCTCT	deletion	Conflicting interpretations of pathogenicity	rs35896485	GRCh37	Chromosome 1, 92944315: 92944318
21	GFI1	NM_005263.3(GFI1): c.925-14_925-5delCTCTCTCTCT	deletion	Conflicting interpretations of pathogenicity	rs35896485	GRCh38	Chromosome 1, 92478758: 92478767
22	GFI1	NM_005263.3(GFI1): c.925-14_925-5delCTCTCTCTCT	deletion	Conflicting interpretations of pathogenicity	rs35896485	GRCh37	Chromosome 1, 92944315: 92944324
23	GFI1	NM_005263.3(GFI1): c.925-18_925-5dupCTCTCTCTCTCTCT	duplication	Conflicting interpretations of pathogenicity	rs35896485	GRCh38	Chromosome 1, 92478758: 92478771
24	GFI1	NM_005263.3(GFI1): c.925-18_925-5dupCTCTCTCTCTCTCT	duplication	Conflicting interpretations of pathogenicity	rs35896485	GRCh37	Chromosome 1, 92944315: 92944328
25	GFI1	NM_005263.3(GFI1): c.792C> T (p.Phe264=)	single nucleotide variant	Benign/Likely benign	rs114487177	GRCh38	Chromosome 1, 92480480: 92480480
26	GFI1	NM_005263.3(GFI1): c.792C> T (p.Phe264=)	single nucleotide variant	Benign/Likely benign	rs114487177	GRCh37	Chromosome 1, 92946037: 92946037
27	GFI1	NM_005263.3(GFI1): c.925-12_925-5dupCTCTCTCT	duplication	Conflicting interpretations of pathogenicity	rs35896485	GRCh38	Chromosome 1, 92478758: 92478765
28	GFI1	NM_005263.3(GFI1): c.925-12_925-5dupCTCTCTCT	duplication	Conflicting interpretations of pathogenicity	rs35896485	GRCh37	Chromosome 1, 92944315: 92944322
29	GFI1	NM_005263.4(GFI1): c.1198C> T (p.Leu400Phe)	single nucleotide variant	Benign	rs143708376	GRCh37	Chromosome 1, 92941657: 92941657
30	GFI1	NM_005263.4(GFI1): c.1198C> T (p.Leu400Phe)	single nucleotide variant	Benign	rs143708376	GRCh38	Chromosome 1, 92476100: 92476100
31	GFI1	NM_005263.4(GFI1): c.925-12_925-5delCTCTCTCT	deletion	Benign	rs35896485	GRCh37	Chromosome 1, 92944315: 92944322
32	GFI1	NM_005263.4(GFI1): c.925-12_925-5delCTCTCTCT	deletion	Benign	rs35896485	GRCh38	Chromosome 1, 92478758: 92478765
33	GFI1	NM_005263.4(GFI1): c.483T> C (p.Pro161=)	single nucleotide variant	Benign	rs374062963	GRCh37	Chromosome 1, 92946461: 92946461
34	GFI1	NM_005263.4(GFI1): c.483T> C (p.Pro161=)	single nucleotide variant	Benign	rs374062963	GRCh38	Chromosome 1, 92480904: 92480904
35	GFI1	NM_005263.4(GFI1): c.804C> T (p.His268=)	single nucleotide variant	Likely benign	rs376949976	GRCh38	Chromosome 1, 92480468: 92480468
36	GFI1	NM_005263.4(GFI1): c.804C> T (p.His268=)	single nucleotide variant	Likely benign	rs376949976	GRCh37	Chromosome 1, 92946025: 92946025
37	GFI1	NM_005263.4(GFI1): c.772A> G (p.Ile258Val)	single nucleotide variant	Uncertain significance	rs755193129	GRCh38	Chromosome 1, 92480615: 92480615
38	GFI1	NM_005263.4(GFI1): c.772A> G (p.Ile258Val)	single nucleotide variant	Uncertain significance	rs755193129	GRCh37	Chromosome 1, 92946172: 92946172
39	GFI1	NM_005263.4(GFI1): c.-14A> C	single nucleotide variant	Benign	rs200972824	GRCh37	Chromosome 1, 92949058: 92949058
40	GFI1	NM_005263.4(GFI1): c.-14A> C	single nucleotide variant	Benign	rs200972824	GRCh38	Chromosome 1, 92483501: 92483501
41	GFI1	NM_005263.4(GFI1): c.925-20_925-5dup	duplication	Benign	rs35896485	GRCh37	Chromosome 1, 92944315: 92944330
42	GFI1	NM_005263.4(GFI1): c.925-20_925-5dup	duplication	Benign	rs35896485	GRCh38	Chromosome 1, 92478758: 92478773
43	GFI1	NM_005263.4(GFI1): c.477G> A (p.Pro159=)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 1, 92480910: 92480910
44	GFI1	NM_005263.4(GFI1): c.477G> A (p.Pro159=)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 1, 92946467: 92946467
45	GFI1	NM_005263.4(GFI1): c.938A> G (p.Asp313Gly)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 1, 92478740: 92478740
46	GFI1	NM_005263.4(GFI1): c.938A> G (p.Asp313Gly)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 1, 92944297: 92944297

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Expression for Neutropenia, Severe Congenital, 2, Autosomal Dominant

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

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Pathways for Neutropenia, Severe Congenital, 2, Autosomal Dominant

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

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

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

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

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Neutropenia, Severe Congenital, 2, Autosomal Dominant

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

Diseases in the Neutropenia family:

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

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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

Interventional clinical trials:

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

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

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

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

Publications for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Genes for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Genes related to Neutropenia, Severe Congenital, 2, Autosomal Dominant (1 elite genes):

Variations for Neutropenia, Severe Congenital, 2, Autosomal Dominant

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

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

Expression 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