HAX1

HCLS1 associated protein X-1
OMIM: 605998, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green HAX1 in Haematological malignancies for rare disease Level 3: Tumour syndromes Level 2: Tumour syndromes Version 1.19	review	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Class: miscellaneous MDS, AML
Green HAX1 in COVID-19 research Level 2: Viral research Version 1.146	review	BIALLELIC, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 London North GLH NHS GMS GRID V2.0 Congenital neutropaenia v1.22 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Agranulocytosis v1.3 Expert Review Green NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 Congenital neutropaenia v1.22 Agranulocytosis v1.3 Phenotypes Congenital neutropenia Cognitive and neurological defects in patients with defects in both HAX1 isoforms, susceptibility to MDS/leukemia Neutropenia, severe congenital 3, autosomal recessive, 610738 Congenital defects of phagocyte number or function Severe congenital neutropenia Neutropenia, severe congenital 3
Green HAX1 in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 Congenital neutropaenia v1.22 Agranulocytosis v1.3 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
Green HAX1 in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.123	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Expert list Radboud University Medical Center, Nijmegen Phenotypes Inherited Bone Marrow Failure Syndromes - Neutropenia Severe congenital neutropenic Neutropenia, Severe Congenital, 3 Autosomal Dominant Neutropenia, severe congenital 3, autosomal recessive, 610738
Green HAX1 in Haematological malignancies cancer susceptibility Level 2: Cancer susceptibility Version 4.37 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Curated sources Phenotypes Class: miscellaneous MDS, AML
Green HAX1 in Cytopenia - NOT Fanconi anaemia Level 2: Haematology Version 4.32 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources North West GLH Yorkshire and North East GLH London South GLH NHS GMS Expert Review Green Wessex and West Midlands GLH 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
Red HAX1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE
Green HAX1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE 610738
Green HAX1 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.125 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Literature Literature Phenotypes Neutropenia, severe congenital 3, autosomal recessive, 610738
Amber HAX1 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Amber Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Neutropenia, severe congenital 3, autosomal recessive, 610738 Tags watchlist