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Prepair 1000+

Gene: HBA2

Red List (low evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Technically challenging due to variant spectrum. Reproductive carrier screening at population level already in place.
Created: 9 Sep 2022, 5:53 a.m. | Last Modified: 9 Sep 2022, 5:53 a.m.
Panel Version: 0.189

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Crystle Lee (Victorian Clinical Genetics Services)

Red List (low evidence)

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

Note deletions are common.
Sources: Literature
Created: 25 Jul 2022, 2:34 a.m.

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
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Erythrocytosis 7, MIM# 617981
  • Heinz body anaemia, MIM# 140700
  • Haemoglobin H disease, deletional and nondeletional, MIM# 613978
  • Thalassaemia, alpha-, MIM# 604131
OMIM
141850
Clinvar variants
Variants in HBA2
Penetrance
None
Panels with this gene

History Filter Activity

9 Sep 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hba2 has been classified as Red List (Low Evidence).

9 Sep 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

9 Sep 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hba2 has been classified as Red List (Low Evidence).

9 Sep 2022, Gel status: 0

Removed Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review was removed from gene: HBA2.

26 Jul 2022, Gel status: 0

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: HBA2.

25 Jul 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Crystle Lee (Victorian Clinical Genetics Services)

gene: HBA2 was added gene: HBA2 was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: HBA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: HBA2 were set to Erythrocytosis 7, MIM# 617981; Heinz body anaemia, MIM# 140700; Haemoglobin H disease, deletional and nondeletional, MIM# 613978; Thalassaemia, alpha-, MIM# 604131 Review for gene: HBA2 was set to RED