Genomics England

Cystic renal disease (Version: )

Relevant disorders: Cystic renal disease - PKD1, R193

This panel contains these 2 panels:

Renal ciliopathies
Cystic kidney disease

Signed off date: 4 Oct 2024

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

95 unique green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	AHI1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG5 Cystic kidney disease	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ALG8 Cystic kidney disease	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ALG9 Cystic kidney disease	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	ALMS1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANKS6 Cystic kidney disease	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANKS6 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL13B Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL6 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B9D2 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS10 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS12 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS2 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS4 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS5 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS7 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS9 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C5orf42 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	CC2D2A Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CENPF Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP104 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP164 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP164 Cystic kidney disease	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP290 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP41 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP83 Cystic kidney disease	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP83 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLCN5 Cystic kidney disease	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 Cystic kidney disease	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CRB2 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSPP1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX59 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DLG5 Renal ciliopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJB11 Cystic kidney disease	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DYNC2H1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DZIP1L Cystic kidney disease	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	FLCN Cystic kidney disease	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GANAB Cystic kidney disease	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GLA Cystic kidney disease	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 Renal ciliopathies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HNF1B Cystic kidney disease	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HYLS1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ICK Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name, watchlist
Green	IFT122 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT140 Renal ciliopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	IFT140 Cystic kidney disease	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	IFT172 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT27 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT43 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INPP5E Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INVS Cystic kidney disease	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INVS Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IQCB1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCA-37405-Loss Cystic kidney disease 2q13 recurrent region (includes NPHP1) Loss region	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCA-37405-Loss Renal ciliopathies 2q13 recurrent region (includes NPHP1) Loss region	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCA-37432-Loss Cystic kidney disease 17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37432-Loss Renal ciliopathies 17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KIAA0586 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIAA0753 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIF7 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LZTFL1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAPKBP1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAPKBP1 Cystic kidney disease	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MKKS Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MKS1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	NEK8 Cystic kidney disease	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	NEK8 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP1 Cystic kidney disease	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP3 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP3 Cystic kidney disease	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP4 Cystic kidney disease	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP4 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OFD1 Renal ciliopathies	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	PAX2 Cystic kidney disease	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PKD1 Renal ciliopathies	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	PKD1 Cystic kidney disease	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	PKD2 Cystic kidney disease	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PKD2 Renal ciliopathies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PKHD1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PKHD1 Cystic kidney disease	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMM2 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRKCSH Cystic kidney disease	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RPGRIP1L Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDCCAG8 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SEC63 Cystic kidney disease	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TCTN1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN2 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN3 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM107 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM138 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM216 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM231 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM237 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM67 Cystic kidney disease	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM67 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAF3IP1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSC1 Cystic kidney disease	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TSC2 Cystic kidney disease	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TTC21B Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	watchlist_moi
Green	TTC21B Cystic kidney disease	BIALLELIC, autosomal or pseudoautosomal	N/A	watchlist_moi
Green	TTC8 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TULP3 Cystic kidney disease	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TXNDC15 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	UMOD Cystic kidney disease	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	VHL Cystic kidney disease	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	WDPCP Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR19 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR19 Cystic kidney disease	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR35 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR60 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	XPNPEP3 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XPNPEP3 Cystic kidney disease	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Cystic renal disease (Version: 9.139.28.37.15.13.19)

Cystic renal disease (Version: )