Early onset or syndromic epilepsy
Gene: HAX1
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
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
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
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
Source Wessex and West Midlands GLH was added to HAX1.
Source NHS GMS was added to HAX1.
Sarah Leigh: Associated with phenotype in O
Gene: hax1 has been classified as Green List (High Evidence).
Victorian Clinical Genetics Services was added to HAX1. Panel: Genetic Epilepsy Syndromes
HAX1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Amber,Literature
HAX1 was created by Sarah Leigh