HAX1

HCLS1 associated protein X-1
OMIM: 605998
PanelMode of inheritanceDetails
5 panels
R-numbers: R91
Signed-off version 1.29
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neutropenia, severe congenital 3, autosomal recessive, 610738, Severe congenital neutropenic, Inherited Bone Marrow Failure Syndromes - Neutropenia, 610738 Neutropenia, severe congenital 3, autosomal recessive, 610738 Neutropenia, severe congenital 3, Neutropenia, Severe Congenital, 3 Autosomal Dominant
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE 610738
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neutropenia, severe congenital 3, autosomal recessive, 610738
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Class: miscellaneous, MDS, AML
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neutropenia, severe congenital 3, autosomal recessive, 610738, Severe congenital neutropenia, Neutropenia, severe congenital 3, Congenital neutropenia, Cognitive and neurological defects in patients with defects in both HAX1 isoforms, susceptibility to MDS/leukemia, Congenital defects of phagocyte number or function