Genomics England

Haematological malignancies cancer susceptibility (Version: )

This cancer panel will be applied as appropriate in the GMS cancer pipeline and is not requestable separately.

Relevant disorders: Haemonc, Haematological malignancies pertinent cancer susceptibility

Signed off date: 22 Mar 2023

Panel types: Cancer Germline 100K, GMS Cancer Germline Virtual, GMS signed-off

87 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ACD	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	ANKRD26	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BLM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BRCA1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BRCA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BRIP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CBL	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CEBPA	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CTC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX41	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DKC1	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	DNAJC21	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOCK8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ELANE	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ERCC4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC6L2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETV6	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FANCA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCB	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	FANCC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCD2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCE	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCF	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCG	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCI	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAS	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GATA1	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	GATA2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GBA	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	HAX1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IKZF1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ITK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIG4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAD2L2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MBD4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MLH1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MSH2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MSH6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAF1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	NBN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NF1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NHP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NOP10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PALB2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PARN	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PAX5	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PMS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRF1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PTPN11	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RAD21	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	missense
Green	RMRP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RPL11	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPL15	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPL23	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	RPL26	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, imprinted status unknown	N/A	N/A
Green	RPL36	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	RPL5	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPS10	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPS17	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPS19	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPS24	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPS26	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPS27	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPS27A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	watchlist, gene-checked, pharmacogenetics
Green	RPS28	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPS29	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPS7	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RTEL1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RUNX1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SAMD9L	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SBDS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SH2D1A	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SLX4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STAT3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	STN1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TERC	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TERT	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TINF2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TP53	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	UBE2T	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WAS	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	gene-therapy-trial
Green	WRAP53	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XRCC2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Haematological malignancies cancer susceptibility (Version: 4.03.02.2)

Haematological malignancies cancer susceptibility (Version: )