Genomics England

Cystic kidney disease (Version: )

This panel is a component of a whole genome sequencing super panel and is only requestable via the superpanel.

Relevant disorders: Cystic kidney disease

Signed off date: 30 Oct 2024

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

38 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ALG5	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ALG8	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ALG9	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	ANKS6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP164	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP83	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	COL4A1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DNAJB11	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DZIP1L	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	FLCN	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GANAB	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	HNF1B	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	IFT140	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	INVS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCA-37405-Loss 2q13 recurrent region (includes NPHP1) Loss region	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCA-37432-Loss 17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MAPKBP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEK8	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	NPHP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PAX2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PKD1	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	PKD2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PKHD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRKCSH	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SEC63	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TMEM67	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSC1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TSC2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TTC21B	BIALLELIC, autosomal or pseudoautosomal	N/A	watchlist_moi
Green	TULP3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UMOD	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	VHL	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	WDR19	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XPNPEP3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Cystic kidney disease (Version: 7.06.05.04.03.02.2)

Cystic kidney disease (Version: )