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  2. Hydrops fetalis
  3. HBA2
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Hydrops fetalis

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)

Note structural variants.
Created: 13 Aug 2020, 8:33 a.m. | Last Modified: 13 Aug 2020, 8:33 a.m.
Panel Version: 0.133

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Thalassemia, alpha-, MIM# 604131

Created: 13 Aug 2020, 8:33 a.m.
Last Modified: 13 Aug 2020, 8:33 a.m.
Panel version: 0.133

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Thalassemia, alpha-, MIM# 604131
Tags
SV/CNV
OMIM
141850
Clinvar variants
Variants in HBA2
Penetrance
None
Panels with this gene

History Filter Activity

13 Aug 2020, 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).

13 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HBA2 were changed from to Thalassemia, alpha-, MIM# 604131

13 Aug 2020, 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 BIALLELIC, autosomal or pseudoautosomal

13 Aug 2020, 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 Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HBA2 was set to Unknown