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Cytopenias and congenital anaemias

Gene: HBD

Amber List (moderate evidence)

HBD (hemoglobin subunit delta)
EnsemblGeneIds (GRCh38): ENSG00000223609
EnsemblGeneIds (GRCh37): ENSG00000223609
OMIM: 142000, Gene2Phenotype
HBD is in 2 panels

1 review

Arianna Tucci (Genomics England Curator)

I don't know

Biallelic gene fusion between HBD and HBB cause thalassemia, but I am not sure WGS can pick up this type of mutation.
Created: 11 Mar 2017, 10:09 p.m.
Biallelic gene fusion between HBD and HBB cause thalassemia, but I am not sure WGS can pick up this type of mutation.
Created: 11 Mar 2017, 10:08 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
thalassemia

Mode of pathogenicity
Other

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Thalassemia,delta
  • ThalassemiaduetoHbLepore
OMIM
142000
Clinvar variants
Variants in HBD
Penetrance
Complete
Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 2

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

9 Mar 2017, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for HBD were set to Thalassemia,delta; ThalassemiaduetoHbLepore

9 Mar 2017, Gel status: 2

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for HBD was changed to Unknown

7 Mar 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

HBD was created by LouiseD

17 Feb 2017, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

HBD was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen