COVID-19 research
Gene: HAX1
HAX1 (HCLS1 associated protein X-1)
EnsemblGeneIds (GRCh38): ENSG00000143575
EnsemblGeneIds (GRCh37): ENSG00000143575
OMIM: 605998, Gene2Phenotype
HAX1 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000143575
EnsemblGeneIds (GRCh37): ENSG00000143575
OMIM: 605998, Gene2Phenotype
HAX1 is in 10 panels
8 reviews
Kimberly Gilmour (Great Ormond Street Hopsital)
agree with green geneCreated: 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)
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 NeutropeniasCreated: 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 neutropeniaCreated: 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: ENST00000328703Created: 17 Apr 2018, 12:12 p.m.
Christopher Duncan (Newcastle University)
Sophie Hambleton (Newcastle University)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
severe congenital neutropenia
Tracy Briggs (Manchester Genomic Medicine Centre)
YES- this is covered on our targeted exomeCreated: 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)
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 sourcesCreated: 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
-
- 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
- OMIM
- 605998
- Clinvar variants
- Variants in HAX1
- Penetrance
- None
- Panels with this gene
-
- Haematological malignancies for rare disease
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Early onset or syndromic epilepsy
- DDG2P
- Haematological malignancies cancer susceptibility
- Intellectual disability
- Fetal anomalies
- COVID-19 research
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