Groopman et al 2019 - Genes with diagnostic variants

Gene: HBB

Green List (high evidence)

HBB (hemoglobin subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000244734
EnsemblGeneIds (GRCh37): ENSG00000244734
OMIM: 141900, Gene2Phenotype
HBB is in 8 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

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