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Fetal hydrops

Gene: HBZ

Red List (low evidence)
HBZ (hemoglobin subunit zeta)
EnsemblGeneIds (GRCh38): ENSG00000130656
EnsemblGeneIds (GRCh37): ENSG00000130656
OMIM: 142310, Gene2Phenotype
HBZ is in 1 panel

2 reviews

Diana Wellesley (nhs)

I don't know

Only one publication on one case and that involved a deletion taking out HBZ and the alpha globin genes
Created: 22 Nov 2016, 11:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 22 Nov 2016, 11:25 a.m.

Panel version: 0.9

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Rated as red based on lack of association with Fetal hydrops.
Created: 19 Dec 2016, 12:31 p.m.
Comment on list classification: Rated as red because only one case reported (in PMID:9029003) and that involved an HBZ gene deletion.
Created: 19 Dec 2016, 12:31 p.m.
HBZ is included in the gene panel for Fetal hydrops because in a patient with hemoglobin H hydrops fetalis (see OMIM:#236750), PMID:9029003 detected a deletion in the HBA2 gene on one chromosome, with the other chromosome carrying a large deletion that removed both alpha-globin genes and the HBZ gene.

Created: 10 Oct 2016, 9:43 a.m.
Created: 10 Oct 2016, 9:43 a.m.

Panel version: 0.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • HEMOGLOBIN H HYDROPS FETALIS SYNDROME
OMIM
142310
Clinvar variants
Variants in HBZ
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 Dec 2016, Gel status: 1

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

21 December 2016. External reviews were assessed, and panel was revised according to expert review, internal discussion and additional curation. Following internal discussion, all genes from the V1.14 'RASopathies' panel were added as green EXCLUDING NF1 and SPRED1- a cautious approach was taken because Fetal hydrops is a fetal panel. All relevant genes from the 'Mucopolysaccharideosis, Gaucher, Fabry' V1.0 panel (lysosomal storage disorders) were also added to the Fetal hydrops panel as green together with genes from the literature where there is a reasonable link between the corresponding lysosomal storage disorder (LSD) and Fetal hydrops. All PEX genes from the V1.2 'Peroxisomal disorders' panel were added as green based on a link between peroxisomal biogenesis disorders and Fetal hydrops.

19 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Red List (Low Evidence).

19 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Red List (Low Evidence).

19 Dec 2016, Gel status: 0

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for HBZ was changed to BIALLELIC, autosomal or pseudoautosomal

10 Oct 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

HBZ was added to Fetal hydropspanel. Sources: Other

10 Oct 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

HBZ was created by rfoulger