Early onset or syndromic epilepsy

Gene: HAX1

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

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

• 18611981
• 18337561

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

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

• 18611981