This Panel is marked as Internal
Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria
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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- UKGTN
- Phenotypes
-
- Inherited Bone Marrow Failure Syndromes - Neutropenia
- Severe congenital neutropenic
- OMIM
- 605998
- Clinvar variants
- Variants in HAX1
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Early onset or syndromic epilepsy
- Haematological malignancies for rare disease
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Haematological malignancies cancer susceptibility
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- COVID-19 research
- Intellectual disability
- DDG2P
History Filter Activity
19 Nov 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)HAX1 was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Source: Expert list
29 Oct 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)HAX1 was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Sources: UKGTN
29 Oct 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)HAX1 was created by ellenmcdonagh