Genomics England

Primary lymphoedema (Version: )

There is a more recent signed-off version of this panel

Relevant disorders: Lymphatic Disorders, Meiges disease, Meige disease, Milroy disease, Lymphoedema distichiasis, Lipoedema disease, R136

Signed off date: 2 Mar 2020

Panel types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off

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40 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ADAMTS3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BRAF	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments	N/A
Green	CBL	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments	N/A
Green	CCBE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CELSR1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHD7	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EPHB4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FAT4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FLT4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FOXC2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GATA2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GJA1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GJC2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HRAS	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments	N/A
Green	IKBKG	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	KIF11	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KRAS	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments	N/A
Green	LZTR1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MAP2K1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments	N/A
Green	MAP2K2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments	N/A
Green	NF1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NRAS	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments	N/A
Green	NSD1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PIEZO1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PMM2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PPP1CB	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PTPN11	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	PTPN14	BIALLELIC, autosomal or pseudoautosomal	N/A	watchlist
Green	RAF1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments	N/A
Green	RASA1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RIT1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments	N/A
Green	SHANK3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SHOC2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SOS1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments	N/A
Green	SOS2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments	N/A
Green	SOX18	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SPRED1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TSC1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TSC2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	VEGFC	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A

Primary lymphoedema (Version: 3.02.2)

Primary lymphoedema (Version: )