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  3. HAX1
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Early onset pancytopenia and red cell disorders

Gene: HAX1

Green List (high evidence)
HAX1 (HCLS1 associated protein X-1)
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
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
Phenotypes
  • 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

History Filter Activity

30 Sep 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene HAX1 was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

HAX1 was added to Early onset pancytopenia and red cell disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services

30 Sep 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene HAX1 was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

HAX1 was added to Early onset pancytopenia and red cell disorderspanel. Source: Radboud University Medical Center, Nijmegen

30 Sep 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene HAX1 was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

HAX1 was added to Early onset pancytopenia and red cell disorderspanel. Source: UKGTN

30 Sep 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

HAX1 was added to Early onset pancytopenia and red cell disorderspanel. Sources: Expert list