Genomics England

Rare anaemia (Version: )

Relevant disorders: R92

Signed off date: 22 Mar 2023

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

78 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ABCB7	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ABCG5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCG8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AK1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALAS2	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ALDOA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AMN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANK1	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	C15orf41	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	CD59	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDAN1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CUBN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYB5R3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHFR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPB41	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EPB42	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	G6PD	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	GATA1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	GCLC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GIF	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	GLRX5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GPI	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GSR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GSS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HBA1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	HBA2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	HBB	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	HBD	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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
Green	HEATR3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HK1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSPA9	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNN4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KIF23	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KLF1	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	LARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LPIN2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTRR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NT5C3A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PFKM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIEZO1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PKLR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PUS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RHAG	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RPL11	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RPL15	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPL31	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	RPL35A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RPL5	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RPL9	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	RPS10	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RPS17	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPS19	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RPS24	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RPS26	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RPS29	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPS7	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SBDS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SEC23B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC11A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC19A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A38	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC2A1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SLC4A1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SPTA1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SPTB	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TCN2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TF	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMPRSS6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TPI1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRNT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UMPS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS4A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	XK	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	YARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Rare anaemia (Version: 3.02.01.2)

Rare anaemia (Version: )