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Additional findings_Paediatric

Gene: HBB

Green List (high evidence)

HBB (hemoglobin subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000244734
EnsemblGeneIds (GRCh37): ENSG00000244734
OMIM: 141900, Gene2Phenotype
HBB is in 9 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Beta-thalassemia
OMIM
141900
Clinvar variants
Variants in HBB
Penetrance
None
Panels with this gene

History Filter Activity

27 Aug 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HBB was added gene: HBB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: HBB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HBB were set to Beta-thalassemia