NEUTROPENIA, SEVERE CONGENITAL, 2, AUTOSOMAL DOMINANT

General Information (adopted from Orphanet):

Synonyms, Signs: SCN2
Number of Symptoms 4
OrphanetNr:
OMIM Id: 613107
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0010976) B lymphocytopenia 8 / 7739
2
(HPO:0012311) Monocytosis 10 / 7739
3
(HPO:0005549) Congenital neutropenia 6 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Person et al. (2003) identified a heterozygous mutation in the GFI1 gene (600871.0001; see MOLECULAR GENETICS) in a 4-month-old boy with SCN2 who had a neutrophil count of zero and marked monocytosis. The mutation segregated with his 3-year-old ...
Molecular genetics OMIM Person et al. (2003) screened GFI1 as a candidate for association with neutropenia in individuals without mutations in ELA2 (130130), the most common cause of autosomal dominant severe congenital neutropenia (SCN1; 202700). They identified a dominant-negative zinc finger ...