Genomics England

Limb disorders (Version: )

Signed off date: 22 Mar 2023

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

152 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ARHGAP31	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARL6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSE	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	new-gene-name
Green	ASXL1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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	BHLHA9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BMP2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	cnv
Green	BMP4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BMPR1B	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	BRCA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BRIP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCND2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	CENPF	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP55	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHSY1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CKAP2L	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL2A1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DDX59	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DLL4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DLX5	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DOCK6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DVL1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	DVL3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EBP	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	EOGT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ESCO2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAM58A	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	new-gene-name
Green	FANCA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCB	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	FANCC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCD2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCE	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCF	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCG	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCI	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCL	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	FGF10	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FGF16	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FGFR1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FGFR2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FGFR3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FIG4	BIALLELIC, autosomal or pseudoautosomal	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	FRAS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FREM2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FZD2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GDF5	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GJA1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GLI1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLI2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GLI3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GNAS	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	N/A	mosaicism, Q4_22_MOI
Green	GPC3	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	GRIP1	BIALLELIC, autosomal or pseudoautosomal	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	HEATR3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HOXA13	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HOXD13	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	IFT27	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IHH	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	cnv
Green	IQCE	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCA-37394-Loss 2q37.3 terminal region (includes HDAC4) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KCNH1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KCNN3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	KIAA0825	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KYNU	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LBR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LMBR1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LMX1B	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	LRP4	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LTBP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LZTFL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MECOM	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MEGF8	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	MYCN	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NIPBL	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NOG	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NOTCH1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PALB2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PAX3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCNT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDE3A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PIK3CA	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	mosaicism, somatic
Green	PIK3R2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	PITX1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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	PRKACB	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PRMT7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PTHLH	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RAB23	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAD51	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RBM8A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RBPJ	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RECQL4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNU4ATAC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ROR2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RPL11	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPL35A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPL5	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPS10	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPS17	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPS19	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPS24	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	RPS7	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SALL1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SALL4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SCUBE3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SF3B4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SFRP4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SHOX	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	Pseudoautosomal region 1
Green	SLC26A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLX4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMAD6	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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	SMO	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	somatic, mosaicism
Green	SMOC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBX3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TBX4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TBX5	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TFAP2B	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TGDS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM67	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TP63	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TRPS1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TRPV4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TTC8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TWIST1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TXNDC15	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	UBA2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	UBE2T	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	WDPCP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR60	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	WNT10B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WNT5A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	WNT7A	BIALLELIC, autosomal or pseudoautosomal	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	Loss-of-function variants DO NOT cause this phenotype	mosaicism, missense

Limb disorders (Version: 4.03.02.2)

Limb disorders (Version: )