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Red cell disorders

Gene: HBA1

Green List (high evidence)
HBA1 (hemoglobin subunit alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000206172
EnsemblGeneIds (GRCh37): ENSG00000206172
OMIM: 141800, Gene2Phenotype
HBA1 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease associations.
Created: 9 Sep 2021, 3:17 a.m. | Last Modified: 9 Sep 2021, 3:17 a.m.
Panel Version: 0.77

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Thalassemias, alpha-, MIM# 604131; Heinz body anemias, alpha-, MIM# 140700; Erythrocytosis 7, MIM# 617981

Created: 9 Sep 2021, 3:17 a.m.
Last Modified: 9 Sep 2021, 3:17 a.m.
Panel version: 0.77

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • North West GLH
  • London South GLH
Phenotypes
  • Thalassemias, alpha-, MIM# 604131
  • Heinz body anemias, alpha-, MIM# 140700
  • Erythrocytosis 7, MIM# 617981
OMIM
141800
Clinvar variants
Variants in HBA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hba1 has been classified as Green List (High Evidence).

9 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HBA1 were changed from Thalassemias, alpha-, 604131; 604131 Thalassemias, alpha; Erythremias, alpha-; Heinz body anemias, alpha-, 140700; Hemoglobin H disease, nondeletional, 613978; Globin Disorder; 604131 Alpha thalassaemia; Methemoglobinemias, alpha- to Thalassemias, alpha-, MIM# 604131; Heinz body anemias, alpha-, MIM# 140700; Erythrocytosis 7, MIM# 617981

15 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Thalassemias, alpha-, 604131; 604131 Thalassemias, alpha; Erythremias, alpha-; Heinz body anemias, alpha-, 140700; Globin Disorder; 604131 Alpha thalassaemia; Hemoglobin H disease, nondeletional, 613978; Methemoglobinemias, alpha- for gene: HBA1

15 Sep 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HBA1 was added gene: HBA1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH Mode of inheritance for gene: HBA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: HBA1 were set to 2050764 Phenotypes for gene: HBA1 were set to Heinz body anemias, alpha-, 140700; Thalassemias, alpha-, 604131; Hemoglobin H disease, nondeletional, 613978; Erythremias, alpha-; Methemoglobinemias, alpha-; Globin Disorder; 604131 Alpha thalassaemia; 604131 Thalassemias, alpha