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COVID-19 research

Gene: HAX1

Green List (high evidence)

HAX1 (HCLS1 associated protein X-1)
EnsemblGeneIds (GRCh38): ENSG00000143575
EnsemblGeneIds (GRCh37): ENSG00000143575
OMIM: 605998, Gene2Phenotype
HAX1 is in 11 panels

8 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): HAX1 .PanelApp HGNC gene symbol check: HAX1 . IUIS Disease: HAX1 deficiency (Kostmann Disease) (SCN3) . IUIS Inheritance: AR .T cells: Normal, .B cells: N/A, .IUIS Other affected cells: N. IUIS Associated features: Cognitive and neurological defects in patients with defects in both HAX1 isoforms, susceptibility to MDS/leukemia. IUIS Major category: Congenital defects of phagocyte number or function. IUIS Subcategory: Congenital Neutropenias
Created: 2 Jul 2018, 10:35 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: HAX1, PanelApp HGNC gene symbol check: HAX1, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Phagocytic disorders / Congenital neutropenia / Congenital neutropenia
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: HAX1, GRID_Gene_Symbol: HAX1, GRID_Transcript_ENS_Community submitted: ENST00000328703, GRID_Transcript_RefSeq: NM_006118.3, GRID_Transcript_ENS_used_on_Production: ENST00000328703
Created: 17 Apr 2018, 12:12 p.m.

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)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Peter Arkwright (Royal Manchester Foundation Trust)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Association with the condition in OMIM and G2P. Three expert reviewers consider it to be green and it's found in 2/4 sources
Created: 24 May 2016, 7:52 p.m.

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
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
OMIM
605998
Clinvar variants
Variants in HAX1
Penetrance
None
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: HAX1 was added gene: HAX1 was added to Viral susceptibility. Sources: Expert Review Green,Agranulocytosis v1.3,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,Congenital neutropaenia v1.22,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: HAX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HAX1 were set to 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