Genomics England

Neurological ciliopathies (Version: )

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

Signed off date: 30 Oct 2024

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

51 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	AHI1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL13B	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	C2CD3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C5orf42	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	CBY1	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
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	CEP290	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP41	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	EVC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EVC2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EXOC3L2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLI3	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	IFT74	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INPP5E	BIALLELIC, autosomal or pseudoautosomal	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	LAMA1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MKS1	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	NPHP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP3	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	PIBF1	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	SCLT1	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	SUFU	BOTH monoallelic and 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	TMEM218	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
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	TOGARAM1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TXNDC15	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	VPS13B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZSWIM6	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A

Neurological ciliopathies (Version: 5.04.54.03.02.01.5)

Neurological ciliopathies (Version: )