Genomics England

Clefting (Version: )

Relevant disorders: Familial non-syndromic cleft lip and or familial cleft palate, Familial non-syndromic clefting, Syndromic cleft lip and or cleft palate, Syndromic clefting

Signed off date: 4 Oct 2024

Panel types: Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel, GMS signed-off

See this panel in PanelApp

168 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ACTB	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ACTG1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ALX1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AMER1	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	AMOTL1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	ANKRD11	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARHGAP29	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	ARHGAP31	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ASXL1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	B3GLCT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCOR	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	BMP2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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	CC2D2A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDH1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CDKN1C	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	N/A	N/A
Green	CHD7	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHRNG	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHST14	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CNTNAP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL11A1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL11A2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL2A1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL9A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COLEC10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COLEC11	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTCF	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CTNND1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DHCR7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHODH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DLL4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DOCK6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DVL1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DVL3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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	EBP	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	EDNRA	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EFNB1	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	EFTUD2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EIF2S3	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	EIF4A3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EOGT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPG5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ESCO2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EYA1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FAM20C	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FGD1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FGFR1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FGFR2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FLNA	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	FLNB	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FOXC2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FRAS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GDF11	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GJA1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GLI2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GLI3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GPC3	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	GRHL3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HDAC8	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	HNRNPK	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HYAL2	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	HYLS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ICK	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	IFT140	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT172	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT80	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IMPAD1	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	IRF6	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37393-Gain 22q11.21 recurrent (Cat eye syndrome) region (includes CECR2) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37423-Gain 8p23.1 recurrent region (includes GATA4) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	watchlist
Green	ISCA-37433-Loss 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37446-Loss 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37467-Gain 7q36.3 ZRS (SHH cis-regulatory) duplication region (within LMBR1 intron 5) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-46303-Loss SOX9 upstream enhancer region Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KAT6A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KAT6B	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KCNJ2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KDM6A	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	KIAA0586	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIF1BP	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	KIF7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KMT2D	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MAP3K7	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MAPRE2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MASP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MBTPS2	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	MED12	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	Skewed X-inactivation
Green	MED25	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	MEIS2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MID1	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	MKS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MSX1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MYMK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NECTIN1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEDD4L	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NEK1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NIPBL	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NOTCH1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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	PAX3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PGAP3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGM1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PHF8	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PIEZO2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PIGN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGV	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLCB4	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	POLR1B	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	POLR1C	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLR1D	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PORCN	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	PTCH1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RAD21	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RBM10	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ROR2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RPL5	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPS26	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SALL4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SATB2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SCARF2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SF3B2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SF3B4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SHH	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SIX1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SIX3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SIX5	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SKI	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SLC26A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMAD3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMAD4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMARCA4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SMC1A	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	SMC3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMS	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SNRPB	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SON	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SOX9	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SPECC1L	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	STAG2	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	STAMBP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBX1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	deletions, structural-variant
Green	TBX22	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	TCOF1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TCTN3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TELO2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TFAP2A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TGDS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TGFB3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TGFBR1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TGFBR2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TMCO1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TP63	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TRAPPC9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRIM37	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRRAP	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TUBB	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TXNL4A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	USP9X	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	WNT5A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	XYLT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZC4H2	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	ZEB2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ZIC2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ZIC3	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ZSWIM6	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A

Clefting (Version: 6.16.05.04.03.02.2)

Clefting (Version: )