Epileptic encephalopathyGene: HAX1
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).
15 Mar 2018, 1:09 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Neutropenia, severe congenital 3, autosomal recessive, 610738
This gene has been classified as Amber List (Moderate Evidence).
HAX1 was added to Epileptic encephalopathy panel. Sources: Literature
HAX1 was created by Sarah Leigh