Agranulocytosis
Gene: HAX1

HAX1 (HCLS1 associated protein X-1)
EnsemblGeneIds (GRCh38): ENSG00000143575
EnsemblGeneIds (GRCh37): ENSG00000143575
OMIM: 605998, Gene2Phenotype
HAX1 is in 10 panels

5 reviews

Christopher Duncan (Newcastle University)

Green List (high evidence)

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
severe congenital neutropenia

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Peter Arkwright (Royal Manchester Foundation Trust)

Green List (high evidence)

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Changed status from red to green due to all reviewers agreeing there is a high level of evidence.
Created: 17 Dec 2015, 10:35 a.m.

Created: 17 Dec 2015, 10:35 a.m.

Panel version: 0.1

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen

Phenotypes

Neutropenia, severe congenital 3, autosomal recessive, 610738

OMIM

605998

Clinvar variants

Variants in HAX1

Penetrance

Complete

Panels with this gene