Anaemias and red cell disorders
Gene: HBA2

HBA2 (hemoglobin subunit alpha 2)
EnsemblGeneIds (GRCh38): ENSG00000188536
EnsemblGeneIds (GRCh37): ENSG00000188536
OMIM: 141850, Gene2Phenotype
HBA2 is in 7 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Globin Disorder

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Jan 2017, 3:46 p.m.

Panel version: 0.9

Details

Sources

Radboud University Medical Center, Nijmegen

Phenotypes

Thalassemia,alpha ,604131Heinzbodyanemia,140700ErythrocytosisHypochromicmicrocyticanemiaHemoglobinHdisease,nondeletional,613978

OMIM

141850

Clinvar variants

Variants in HBA2

Penetrance

Complete

Panels with this gene

History Filter Activity

22 Jul 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

HBA2 was added to Anaemias and red cell disorderspanel. Sources: Radboud University Medical Center, Nijmegen

22 Jul 2016, Gel status: 0

Created