Fetal hydrops
Gene: HBZ
Only one publication on one case and that involved a deletion taking out HBZ and the alpha globin genesCreated: 22 Nov 2016, 11:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
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.
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.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for HBZ was changed to BIALLELIC, autosomal or pseudoautosomal
HBZ was added to Fetal hydropspanel. Sources: Other
HBZ was created by rfoulger