Hereditary Erythrocytosis
Gene: HBA2EnsemblGeneIds (GRCh38): ENSG00000188536
EnsemblGeneIds (GRCh37): ENSG00000188536
OMIM: 141850, Gene2Phenotype
HBA2 is in 7 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Comment on phenotypes: This gene is also associated with Heinz body anemia, OMIM:140700; Hemoglobin H disease, deletional and nondeletional, OMIM:613978; Thalassemia, alpha-, OMIM:604131Created: 23 Mar 2021, 10:12 a.m. | Last Modified: 23 Mar 2021, 10:12 a.m.
Panel Version: 1.28
Olivia Niblock (Genomics England Curator)
Comment on list classification: After Clinical Review and further literature search, it was decided that this gene should be green.Created: 8 May 2017, 9:46 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Erythrocytosis 7, OMIM:617981
- OMIM
- 141850
- Clinvar variants
- Variants in HBA2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: HBA2 were changed from Erythrocytosis to Erythrocytosis 7, OMIM:617981
panel promoted to version 1
Olivia Niblock (Genomics England Curator)09/05/2017 - Panel reviews were assessed, and panel was revised according to reviews and further curation.
Set Mode of Inheritance
Olivia Niblock (Genomics England Curator)Mode of inheritance for HBA2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Mode of Inheritance
Olivia Niblock (Genomics England Curator)Mode of inheritance for HBA2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene classified by Genomics England curator
Olivia Niblock (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Olivia Niblock (Genomics England Curator)Publications for HBA2 were set to 26852627; 27240426; 25669128; 2227935; 11186265; 1988759; 1592116; 19734427; 23388674
Set publications
Olivia Niblock (Genomics England Curator)Publications for HBA2 were set to 26852627; 27240426; 25669128; 2227935; 11186265; 1988759; 1592116; 19734427; 233886741
Set publications
Ellen McDonagh (Genomics England Curator)Publications for HBA2 were set to 26852627; 27240426; 25669128; 2227935; 11186265;1988759
Set publications
Ellen McDonagh (Genomics England Curator)Publications for HBA2 were set to 26852627; 27240426; 25669128; 2227935;11186265
Set publications
Ellen McDonagh (Genomics England Curator)Publications for HBA2 were set to 26852627; 27240426; 25669128;2227935
Gene classified by Genomics England curator
Olivia Niblock (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set Mode of Inheritance
Olivia Niblock (Genomics England Curator)Mode of inheritance for HBA2 was changed to Unknown
Gene classified by Genomics England curator
Olivia Niblock (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Olivia Niblock (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Olivia Niblock (Genomics England Curator)Publications for HBA2 were set to 26852627;27240426;25669128
Added New Source
Olivia Niblock (Genomics England Curator)HBA2 was added to Hereditary Erythrocytosispanel. Sources: Radboud University Medical Center, Nijmegen
Created
Olivia Niblock (Genomics England Curator)HBA2 was created by oniblock