Genomics England

Relevant disorders: R93

Signed off date: 7 Aug 2024

Panel types: GMS Rare Disease, GMS signed-off

5 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	HBA2	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
Green	HBG1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HBG2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A