HAX1

HCLS1 associated protein X-1
OMIM: 605998, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green HAX1 in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.1

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 1.76

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


Version 2.402
Latest signed off version: v2.1 (24 Feb 2020)

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 1.84

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • 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 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 2.15
Latest signed off version: v2.2 (18 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Curated sources
Phenotypes
  • Class: miscellaneous
  • MDS, AML

Green HAX1 in Cytopenia - NOT Fanconi anaemia


Version 1.36
Latest signed off version: v1.29 (15 Oct 2020)

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


Version 1.638
Latest signed off version: v1.637 (30 Jun 2021)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE

Green HAX1 in DDG2P


Version 2.21
Latest signed off version: v2.2 (13 Feb 2020)

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 Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.312
    Latest signed off version: v2.311 (16 Dec 2021)

    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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1002
    Latest signed off version: v3.1001 (16 Dec 2021)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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

    Green HAX1 in Severe Paediatric Disorders


    Version 1.66

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neutropenia, severe congenital 3, autosomal recessive, 610738

    Green HAX1 in NewbornFullV1


    Version 0.1

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green