Genomics England

Bleeding and platelet disorders (Version: )

Relevant disorders: R90

Signed off date: 22 Mar 2023

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

90 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ABCG5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCG8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACTB	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ACTN1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ACVRL1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ANKRD26	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ANO6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP3B1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP3D1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARPC1B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BLOC1S3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BLOC1S6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDC42	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHST14	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL3A1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CYCS	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DIAPH1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DTNBP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ENG	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ETV6	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	F10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	F11	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	F12	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	F13A1	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	F13B	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	F2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	F5	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	F7	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	F8	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	F9	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FERMT3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FGA	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FGB	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	FGG	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	FLI1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FLNA	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	FYB1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GATA1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	GBA	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	GFI1B	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GGCX	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNE	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GP1BA	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GP1BB	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GP6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GP9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HPS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HPS3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HPS4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HPS5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HPS6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IKZF5	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ITGA2B	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ITGB3	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	KDSR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KLKB1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KNG1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LMAN1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LYST	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCFD2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MECOM	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MPIG6B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYH9	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NBEAL2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	P2RY12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLA2G4A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLAU	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PTGS1	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	RASGRP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RBM8A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RUNX1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SERPINE1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SERPINF2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLFN14	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SRC	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	STIM1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	STXBP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBXA2R	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	TBXAS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	THBD	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	THPO	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TNXB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TPM4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	TUBB1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	VIPAS39	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VKORC1	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	VPS33B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VWF	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	WAS	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A

Bleeding and platelet disorders (Version: 3.02.01.2)

Bleeding and platelet disorders (Version: )