Genomics England

Skeletal ciliopathies (Version: )

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

Signed off date: 6 Dec 2023

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

35 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	C21orf2	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C2CD3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP120	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSPP1	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	DYNC2LI1	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	GLI3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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	IFT140	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT172	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT43	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT52	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT80	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT81	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INTU	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IQCE	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIAA0753	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LBR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEK1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIK3C2A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMM2	BIALLELIC, autosomal or pseudoautosomal	N/A	Q3_23_demote_red, Q3_23_expert_review
Green	PRKACA	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PRKACB	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	SBDS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTEX1D2	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	TTC21B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR19	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR34	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	WDR35	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR60	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ZSWIM6	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A

Skeletal ciliopathies (Version: 3.143.12.01.2)

Skeletal ciliopathies (Version: )