Genomics England

Renal ciliopathies (Version: )

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

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

Signed off date: 4 Mar 2020

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

73 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	AHI1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALMS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANKS6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL13B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARMC9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B9D2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C5orf42	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	CC2D2A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CENPF	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP104	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP164	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP290	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP41	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP83	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CRB2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSPP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX59	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYNC2H1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HNF1B	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HYLS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ICK	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	IFT122	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT43	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INPP5E	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INVS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IQCB1	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	KIAA0586	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIAA0753	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIF7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LZTFL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAPKBP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MKKS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MKS1	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	NEK8	BIALLELIC, autosomal or pseudoautosomal	N/A	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	OFD1	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	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, imprinted status unknown	N/A	N/A
Green	PKHD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMM2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RPGRIP1L	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDCCAG8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM107	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM138	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM216	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM231	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM237	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM67	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAF3IP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC21B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TXNDC15	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDPCP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR19	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR35	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR60	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Renal ciliopathies (Version: 3.33.02.01.2)

Renal ciliopathies (Version: )