Genomics England

Nephrocalcinosis or nephrolithiasis (Version: )

Relevant disorders: Renal tract calcification (or Nephrolithiasis or nephrocalcinosis), Renal tract calcification (or Nephrolithiasis/nephrocalcinosis), R256

Signed off date: 3 Oct 2024

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

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34 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	AGXT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	APRT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP6V0A4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP6V1B1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BSND	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CASR	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	CLCN5	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	CLCNKB	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	monogenic-polygenic, Q3_23_MOI
Green	CLDN16	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLDN19	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP24A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAM20A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GRHPR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HNF4A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HOGA1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HPRT1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	KCNJ1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MOCOS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OCRL	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PHEX	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	RRAGD	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	SLC12A1	BIALLELIC, autosomal or pseudoautosomal	N/A	monogenic-polygenic
Green	SLC22A12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC2A9	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SLC34A1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SLC34A3	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	SLC3A1	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	SLC4A1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SLC7A9	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	STRADA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VIPAS39	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS33B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XDH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Nephrocalcinosis or nephrolithiasis (Version: 4.164.03.02.2)

Nephrocalcinosis or nephrolithiasis (Version: )