Groopman et al 2019 - Genes with diagnostic variants
Gene: HBB

HBB (hemoglobin subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000244734
EnsemblGeneIds (GRCh37): ENSG00000244734
OMIM: 141900, Gene2Phenotype
HBB is in 7 panels

1 review

Eleanor Williams (Genomics England Curator)

I don't know

From Groopman et al 2019 Table S7. Gene symbol: HBB: Inheritance: AR; Clkinical diagnosis: Nephropathy of unknown origin; Other; Genetic diagnosis: Sickle cell disease; OMIM phenotype MIM no.: 603903; Number of cases: 3 (homozygous)
Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.

Panel Version: 0.4

Created: 2 Jul 2019, 9:46 p.m.
Last Modified: 2 Jul 2019, 9:46 p.m.
Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert review green
Literature

Phenotypes

Other
Nephropathy of unknown origin
Sickle cell disease
MIM 603903

OMIM

141900

Clinvar variants

Variants in HBB

Penetrance

None

Panels with this gene

History Filter Activity

2 Jul 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to HBB. Rating Changed from Red List (low evidence) to Green List (high evidence)

2 Jul 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: HBB was added gene: HBB was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green Mode of inheritance for gene: HBB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HBB were set to Other; Nephropathy of unknown origin; Sickle cell disease; MIM 603903

Groopman et al 2019 - Genes with diagnostic variants Gene: HBB