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Genetic epilepsy syndromes

Gene: HAX1

Green List (high evidence)

HAX1 (HCLS1 associated protein X-1)
EnsemblGeneIds (GRCh38): ENSG00000143575
EnsemblGeneIds (GRCh37): ENSG00000143575
OMIM: 605998, Gene2Phenotype
HAX1 is in 9 panels

4 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR severe congenital neutropenia 3. AR bone marrow failure disorder. Boztug et al 2010 reported that patients with HAX1 mutations affecting both isoform A and B of the gene develop neurologic abnormalities. Germeshausen et al 2008 - 6 unrelated patients - 2/6 had seizures. Botzug et al, 2010 - consang Turkish family- 2 aff sisters - 1/2 had severe epilepsy - hom del of 2 kb (exons 4-7). Ishikawa et al, 2008 - 5/18 Japanese patients with SNP had hom/compound het HAX1 mutations 3/5 had seizures.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neutropenia, severe congenital 3, 610738

Publications

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Neurological features, including seizures, are a prominent feature of this immunodeficiency.
Created: 15 Aug 2018, 12:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neutropenia, severe congenital 3, autosomal recessive, MIM#610738

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

Sarah Leigh (Genomics England Curator)

I don't know

Associated with phenotype in OMIM and as a confirmed G2P association. At least 8 variants have been reported in Neutropenia, severe congenital 3, autosomal recessive (610738), three cases carrying p.Arg86* suffered from epileptic seizures (PMID18611981).
Created: 15 Mar 2018, 1:09 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neutropenia, severe congenital 3, autosomal recessive, 610738

Publications

Details

Mode of Inheritance
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
OMIM
605998
Clinvar variants
Variants in HAX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to HAX1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to HAX1.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

26 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: hax1 has been classified as Green List (High Evidence).

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to HAX1. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

HAX1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Amber,Literature

4 Apr 2018, Gel status: 2

Created

Sarah Leigh (Genomics England Curator)

HAX1 was created by Sarah Leigh