BabyScreen+ newborn screening

Gene: ELANE

Green List (high evidence)

ClinGen: there is little evidence for haploinsufficiency. gnomAD pLI score is zero and there are NMD predicted variants in the population.

Entire gene deletion is not described in the context of neutropenia, including deletion of 19p terminal (encompassing ELANE) (PMID: 33968054).

Maturation arrest, the failure of the marrow myeloid progenitors to form mature neutrophils, is a consistent feature of ELANE associated congenital neutropenia. Knock-out of the mutant allele in hematopoietic stem cells derived from SCN patients restores neutrophils maturation (PMID: 3124897).

Created: 19 Apr 2024, 4:52 a.m. | Last Modified: 19 Apr 2024, 4:52 a.m.

Panel Version: 1.110

Well established gene-disease association.

Congenital onset.

Treatment: granulocyte colony-stimulating factor (G-CSF), Bone marrow transplant (hematopoietic stem cell transplantation (HSCT))

Created: 16 Nov 2022, 7:22 a.m. | Last Modified: 16 Nov 2022, 7:22 a.m.

Panel Version: 0.904

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neutropaenia, severe congenital 1, autosomal dominant, MIM# 202700

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments