Genomics England

Ophthalmological ciliopathies (Version: )

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

Signed off date: 3 Oct 2024

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

64 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	ARL13B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL3	BOTH monoallelic and 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	C21orf2	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C5orf42	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C8orf37	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	CSPP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX59	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	IFT172	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT27	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT74	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INPP5E	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IQCB1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIAA0586	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	LZTFL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MKKS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MKS1	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	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	SDCCAG8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUFU	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TBC1D32	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
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	TRAF3IP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS13B	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

Ophthalmological ciliopathies (Version: 4.54.44.03.02.01.3)

Ophthalmological ciliopathies (Version: )