Genomics England

Relevant disorders: R361

Signed off date: 14 Sept 2023

Panel types: GMS Rare Disease, GMS signed-off

2 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	HBA1	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	HBB	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A