Genomics England

Proteinuric renal disease (Version: )

Relevant disorders: R195

Signed off date: 22 Mar 2023

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

55 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ACTN4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	AMN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	APOE	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARHGDIA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CD151	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLCN5	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	COL4A3	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	COL4A4	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	COL4A5	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	COQ2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ8B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CRB2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CUBN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DAAM2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DGKE	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DLC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAT1	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	FN1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GLA	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	GON7	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	INF2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	ITGA3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ITSN1	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	LAGE3	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	LAMB2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LCAT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LMX1B	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	MAGI2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYH9	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MYO1E	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NUP107	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NUP133	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NUP85	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NUP93	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OCRL	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	OSGEP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PAX2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PDSS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLCE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PODXL	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	SCARB2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SGPL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMARCAL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBC1D8B	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	gene-checked
Green	TNS2	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TP53RK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TPRKB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRIM8	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	TRPC6	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	WDR73	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WT1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	YRDC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Proteinuric renal disease (Version: 4.03.02.32)

Proteinuric renal disease (Version: )