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Cytopenias and congenital anaemias
Gene: HBD

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

Created: 11 Mar 2017, 10:09 p.m.

Panel version: 0.544

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