Genomics England

Cytopenia - NOT Fanconi anaemia (Version: )

Relevant disorders: R91

Signed off date: 22 Mar 2023

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

59 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	ADA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AK2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANKRD26	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CLPB	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CSF3R	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CXCR4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CYCS	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DDX41	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DKC1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	DNAJC21	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EFL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ELANE	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ERCC6L2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETV6	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FYB1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	G6PC3	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	GATA2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GFI1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HAX1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	JAGN1	BIALLELIC, autosomal or pseudoautosomal	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	MECOM	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MPL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYSM1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NHP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PARN	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RMRP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RPA1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	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	RPL35A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RPL5	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
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	RTEL1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SAMD9	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	SRC	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SRP54	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	STN1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAZ	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	new-gene-name
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	THPO	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TINF2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	USB1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS45	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WAS	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	WIPF1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WRAP53	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Cytopenia - NOT Fanconi anaemia (Version: 3.02.01.29)

Cytopenia - NOT Fanconi anaemia (Version: )