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Mendeliome

Gene: HBA2

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Haemoglobinopathies of alpha-globin can result from variants at either of the 2 alpha-globin loci, HBA1 or HBA2.

Note deletions are common.
Created: 2 May 2022, 1:22 a.m. | Last Modified: 2 May 2022, 1:22 a.m.
Panel Version: 0.13566

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Erythrocytosis 7, MIM# 617981; Heinz body anaemia, MIM# 140700; Haemoglobin H disease, deletional and nondeletional, MIM# 613978; Thalassaemia, alpha-, MIM# 604131

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Erythrocytosis 7, MIM# 617981
  • Heinz body anaemia, MIM# 140700
  • Haemoglobin H disease, deletional and nondeletional, MIM# 613978
  • Thalassaemia, alpha-, MIM# 604131
Tags
SV/CNV
OMIM
141850
Clinvar variants
Variants in HBA2
Penetrance
None
Panels with this gene

History Filter Activity

2 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hba2 has been classified as Green List (High Evidence).

2 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HBA2 were changed from to Erythrocytosis 7, MIM# 617981; Heinz body anaemia, MIM# 140700; Haemoglobin H disease, deletional and nondeletional, MIM# 613978; Thalassaemia, alpha-, MIM# 604131

2 May 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: HBA2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

2 May 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: HBA2.

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HBA2 was added gene: HBA2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HBA2 was set to Unknown