This Panel is marked as Internal
Anaemias and red cell disorders
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Inherited Bone Marrow Failure Syndromes - Neutropenia
- Severe congenital neutropenic
- Neutropenia, Severe Congenital, 3 Autosomal Dominant
- Neutropenia, severe congenital 3, autosomal recessive, 610738
- OMIM
- 605998
- Clinvar variants
- Variants in HAX1
- Penetrance
- Complete
- Panels with this gene
-
- Haematological malignancies for rare disease
- Early onset or syndromic epilepsy
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Intellectual disability
- DDG2P
- Haematological malignancies cancer susceptibility
- Fetal anomalies
- COVID-19 research
History Filter Activity
22 Jul 2016, Gel status: 3
Added New Source
Ellen McDonagh (Genomics England Curator)HAX1 was added to Anaemias and red cell disorderspanel. Source: Radboud University Medical Center, Nijmegen HAX1 was added to Anaemias and red cell disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
22 Jul 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)HAX1 was created by ellenmcdonagh
22 Jul 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)HAX1 was added to Anaemias and red cell disorderspanel. Sources: UKGTN,Expert list