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Phagocyte Defects

Gene: DBF4

Red List (low evidence)
DBF4 (DBF4 zinc finger)
EnsemblGeneIds (GRCh38): ENSG00000006634
EnsemblGeneIds (GRCh37): ENSG00000006634
OMIM: 604281, Gene2Phenotype
DBF4 is in 1 panel

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

A single case with a homozygous variant & some supporting in vitro functional assay.
Sources: Expert list
Created: 17 Nov 2024, 2:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
severe congenital neutropenia MONDO:0018542

Publications

Created: 17 Nov 2024, 2:33 a.m.

Panel version: 1.32

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • severe congenital neutropenia MONDO:0018542
OMIM
604281
Clinvar variants
Variants in DBF4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Nov 2024, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dbf4 has been classified as Red List (Low Evidence).

17 Nov 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: DBF4 was added gene: DBF4 was added to Phagocyte Defects. Sources: Expert list Mode of inheritance for gene: DBF4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DBF4 were set to 36841265 Phenotypes for gene: DBF4 were set to severe congenital neutropenia MONDO:0018542 Review for gene: DBF4 was set to RED