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Epileptic encephalopathy

Gene: HAX1

Amber List (moderate evidence)

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

1 review

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).
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
  • Expert Review Amber
  • 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

15 Mar 2018, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

15 Mar 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

HAX1 was added to Epileptic encephalopathy panel. Sources: Literature

15 Mar 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

HAX1 was created by Sarah Leigh