This Panel is marked as Retired
Epileptic encephalopathy
Gene: HAX1
HAX1 (HCLS1 associated protein X-1)
EnsemblGeneIds (GRCh38): ENSG00000143575
EnsemblGeneIds (GRCh37): ENSG00000143575
OMIM: 605998, Gene2Phenotype
HAX1 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000143575
EnsemblGeneIds (GRCh37): ENSG00000143575
OMIM: 605998, Gene2Phenotype
HAX1 is in 10 panels
1 review
Sarah Leigh (Genomics England Curator)
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
-
- 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
-
- Haematological malignancies for rare disease
- Haematological malignancies cancer susceptibility
- Cytopenia - NOT Fanconi anaemia
- Intellectual disability
- Early onset or syndromic epilepsy
- Cytopenias and congenital anaemias
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- DDG2P
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