Genomics England

Genes and Entities

Iron metabolism disorders - NOT common HFE mutations (Version: )

Relevant disorders: Iron metabolism disorders, R96

Signed off date: 22 Mar 2023

Panel types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off

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18 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ABCB7	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ALAS2	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ATP7B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BMP6	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYBRD1	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	FTL	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GBA	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	GLRX5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HAMP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HFE	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HFE2	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	SLC11A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A38	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC40A1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TF	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TFR2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMPRSS6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A