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Red cell disorders

Gene: HBD

Green List (high evidence)
HBD (hemoglobin subunit delta)
EnsemblGeneIds (GRCh38): ENSG00000223609
EnsemblGeneIds (GRCh37): ENSG00000223609
OMIM: 142000, Gene2Phenotype
HBD is in 1 panel

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. Numerous HbD variants in addition.
Created: 9 Sep 2021, 4:01 a.m. | Last Modified: 9 Sep 2021, 4:01 a.m.
Panel Version: 0.80

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Thalassaemia, delta-; Thalassaemia due to Hb Lepore

Created: 9 Sep 2021, 4:01 a.m.
Last Modified: 9 Sep 2021, 4:01 a.m.
Panel version: 0.80

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • North West GLH
  • London South GLH
Phenotypes
  • Thalassaemia, delta-
  • Thalassaemia due to Hb Lepore
OMIM
142000
Clinvar variants
Variants in HBD
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: hbd 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: HBD were changed from Thalassemia due to Hb Lepore; Thalassemia,delta; Thalassemiadue to HbLepore; 141749 Delta-beta thalassaemia, thalassaemia due to Hb Lepore; Thalassemia, delta to Thalassaemia, delta-; Thalassaemia due to Hb Lepore

15 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Thalassemia due to Hb Lepore; Thalassemia,delta; Thalassemiadue to HbLepore; 141749 Delta-beta thalassaemia, thalassaemia due to Hb Lepore; Thalassemia, delta for gene: HBD

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: HBD was added gene: HBD 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: HBD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HBD were set to 27630894; 25490067 Phenotypes for gene: HBD were set to Thalassemiadue to HbLepore; Thalassemia due to Hb Lepore; 141749 Delta-beta thalassaemia, thalassaemia due to Hb Lepore; Thalassemia,delta; Thalassemia, delta