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  3. HAX1
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Cytopenias and congenital anaemias

Gene: HAX1

Green List (high evidence)
HAX1 (HCLS1 associated protein X-1)
EnsemblGeneIds (GRCh38): ENSG00000143575
EnsemblGeneIds (GRCh37): ENSG00000143575
OMIM: 605998, Gene2Phenotype
HAX1 is in 10 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Neutropenia is relevant phenotype for the panel, and >3 cases supporting causation.
Created: 9 Mar 2017, 10:29 a.m.
Comment on list classification: Kept rating as Green: Neutropenia is relevant phenotype for the panel. >3 cases supporting causation for severe congenital neutropenia.
Created: 9 Mar 2017, 10:28 a.m.
Created: 9 Mar 2017, 10:28 a.m.

Panel version: 0.454

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Severe congenital neutropenia

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Jan 2017, 3:46 p.m.

Panel version: Imported from "Anaemias and red cell disorders" panel version 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Inherited Bone Marrow Failure Syndromes - Neutropenia
  • Severe congenital neutropenic
  • Neutropenia, Severe Congenital, 3 Autosomal Dominant
  • Neutropenia, severe congenital 3, autosomal recessive, 610738
OMIM
605998
Clinvar variants
Variants in HAX1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

9 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

9 Mar 2017, Gel status: 4

Set publications

Rebecca Foulger (Genomics England curator)

Publications for HAX1 were set to 18337561; 17187068; 10581030; 18024606

9 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

17 Feb 2017, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

HAX1 was added to Cytopaenias and congenital anaemiaspanel. Sources: Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

HAX1 was created by LouiseD