Genomics England

Rare multisystem ciliopathy Super panel (Version: )

This panel contains these 4 panels:

Ophthalmological ciliopathies
Neurological ciliopathies
Renal ciliopathies
Skeletal ciliopathies

Signed off date: 6 Dec 2023

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

111 unique green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	AHI1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AHI1 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AHI1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALMS1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALMS1 Renal ciliopathies	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	ARL13B Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL13B Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL3 Ophthalmological ciliopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ARL6 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL6 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARMC9 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARMC9 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B9D2 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B9D2 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B9D2 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS10 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS10 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS12 Ophthalmological 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	BBS2 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS4 Ophthalmological 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	BBS5 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS7 Ophthalmological 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	BBS9 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C21orf2 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C21orf2 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C2CD3 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C2CD3 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C5orf42 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C5orf42 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C5orf42 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C8orf37 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	CBY1 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	CC2D2A Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CC2D2A Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CC2D2A Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CENPF Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CENPF Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CENPF Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP104 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP104 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP104 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP120 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP164 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP164 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP290 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP290 Neurological ciliopathies	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	CEP41 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP41 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP83 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CRB2 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CRB2 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSPP1 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSPP1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSPP1 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSPP1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX59 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX59 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX59 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DLG5 Renal ciliopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	gene-checked
Green	DYNC2H1 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYNC2H1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYNC2LI1 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EVC Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EVC Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EVC2 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EVC2 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLI3 Skeletal ciliopathies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GLI3 Ophthalmological ciliopathies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GLI3 Neurological ciliopathies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HNF1B Renal ciliopathies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HYLS1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HYLS1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HYLS1 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ICK Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ICK Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name, watchlist
Green	ICK Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	IFT122 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
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 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT172 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT172 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT172 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT27 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT27 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT43 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT43 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT52 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT74 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT74 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT80 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT81 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INPP5E Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INPP5E Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INPP5E Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INTU Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INVS Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IQCB1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IQCB1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IQCE Skeletal ciliopathies	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 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	KIAA0586 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIAA0586 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIAA0753 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIAA0753 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIAA0753 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIF7 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIF7 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIF7 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMA1 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMA1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LBR Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LZTFL1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LZTFL1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAPKBP1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MKKS Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MKKS Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MKS1 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	MKS1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	MKS1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEK1 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEK8 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP1 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP3 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP3 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP3 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP4 Ophthalmological ciliopathies	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	OFD1 Neurological 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	OFD1 Ophthalmological 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	PIBF1 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIK3C2A Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	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	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	PMM2 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMM2 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMM2 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	Q3_23_demote_red, Q3_23_expert_review
Green	PMM2 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRKACA Skeletal ciliopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PRKACB Skeletal ciliopathies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	RPGRIP1L Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RPGRIP1L Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RPGRIP1L Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SBDS Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCLT1 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	SCLT1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	SDCCAG8 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDCCAG8 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUFU Ophthalmological ciliopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SUFU Neurological ciliopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TBC1D32 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TCTEX1D2 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	TCTN1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN1 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN2 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN2 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN2 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN3 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN3 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN3 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM107 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM107 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM107 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM138 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM138 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM138 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM216 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM216 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM216 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM218 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TMEM218 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TMEM231 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM231 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM231 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM237 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM237 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM237 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM67 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM67 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM67 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TOGARAM1 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAF3IP1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAF3IP1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC21B Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	watchlist_moi
Green	TTC21B Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC8 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC8 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TXNDC15 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TXNDC15 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	VPS13B Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS13B Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDPCP Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDPCP Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR19 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR19 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR19 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR34 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	WDR35 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR35 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR60 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
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	ZSWIM6 Neurological ciliopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	ZSWIM6 Skeletal ciliopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A

Rare multisystem ciliopathy Super panel (Version: 12.4212.28.24.21)

Rare multisystem ciliopathy Super panel (Version: )