Genomics England

HAX1

HCLS1 associated protein X-1

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Cytopenia - NOT Fanconi anaemia R-numbers: R91 Signed-off version 3.0	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 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE 610738
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neutropenia, severe congenital 3, autosomal recessive, 610738
Green in Haematological malignancies cancer susceptibility Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Class: miscellaneous, MDS, AML
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 4.0	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