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Agranulocytosis

Gene: HAX1

Green List (high evidence)

HAX1 (HCLS1 associated protein X-1)
EnsemblGeneIds (GRCh38): ENSG00000143575
EnsemblGeneIds (GRCh37): ENSG00000143575
OMIM: 605998, Gene2Phenotype
HAX1 is in 12 panels

5 reviews

Christopher Duncan (Newcastle University)

Green List (high evidence)

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
severe congenital neutropenia

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

Peter Arkwright (Royal Manchester Foundation Trust)

Green List (high evidence)

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.

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

History Filter Activity

17 Dec 2015, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Dec 2015, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for HAX1 were set to Neutropenia, severe congenital 3, autosomal recessive, 610738;

17 Dec 2015, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for HAX1 were set to

17 Dec 2015, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

30 Jun 2015, Gel status: 1

Upload gene information

Ellen McDonagh (Genomics England Curator)

HAX1 was added to Agranulocytosispanel. Sources: Radboud University Medical Center, Nijmegen

30 Jun 2015, Gel status: 1

Upload gene information

Ellen McDonagh (Genomics England Curator)

HAX1 was added to Agranulocytosispanel. Sources: UKGTN

22 Jun 2015, Gel status: 1

Changed Gene Name

Antonio Rueda (GEL)

HAX1 was changed to HAX1

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

HAX1 was added to Agranulocytosispanel. Sources: Radboud University Medical Center, Nijmegen