Disorder "Severe congenital neutropenia"
Found 1 record
Disorder information
Disorder name:
Severe congenital neutropenia
Disoder ID:
OMIM entry:
Definition:
A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Risk factor(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| ELANE | ELANE:c.292G-A(p.V98M) | Expressivity | Risk factor | Pedigree analysis | modify the phenotypemore | more |
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