Genomics England

Skeletal dysplasia (Version: )

There is a more recent signed-off version of this panel

Relevant disorders: Unexplained skeletal dysplasia, Skeletal dysplasia, R104

Signed off date: 13 Feb 2020

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

386 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ABCC9	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ACAN	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ACP5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACVR1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ADAMTS10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAMTS17	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAMTSL2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGPS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALPL	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	ALX1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALX3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALX4	BOTH monoallelic and 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	ANKH	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ANKRD11	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ANO5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANTXR2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARHGAP31	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARL6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSB	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, NOT imprinted	N/A	N/A
Green	ASXL2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATP6V0A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP7A	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	B3GALT6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GAT3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GLCT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GALT7	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	BHLHA9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BMP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BMP2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	BMPER	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BMPR1B	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	C21orf2	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C2CD3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CANT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CASR	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CC2D2A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDC45	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDH3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDKN1C	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	N/A	N/A
Green	CDT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP120	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP290	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHST14	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHST3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHSY1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLCN5	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	CLCN7	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COG1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL10A1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COL11A1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL11A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL1A1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	COL1A2	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	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COL9A2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL9A3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COLEC11	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COMP	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	nucleotide-repeat-expansion
Green	CREB3L1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CREBBP	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CRTAP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSPP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CUL7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP27B1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP2R1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDR2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR24	BIALLELIC, autosomal or pseudoautosomal	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	DIS3L2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DLL3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DLL4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DLX3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DLX5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DMP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNMT3A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DOCK6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPAGT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DSPP	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DVL1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DVL3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DYM	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	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	EED	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EFTUD2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EIF2AK3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ENPP1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	EOGT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERF	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ESCO2	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	EXT1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EXT2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EXTL3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EZH2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FAM111A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FAM20C	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAM46A	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
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	FBN1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FBN2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FERMT3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FGF10	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FGF16	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FGF23	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FGFR1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FGFR2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FGFR3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FIG4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKBP10	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	FLNB	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FN1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	FUCA1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FZD2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GALNS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALNT3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GDF5	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GDF6	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GHR	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	GLB1	BIALLELIC, autosomal or pseudoautosomal	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	N/A
Green	GNPAT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPTAB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPTG	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GORAB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GPC6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GSC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GUSB	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	HES7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HGSNAT	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	nucleotide-repeat-expansion
Green	HPGD	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	HSPG2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ICK	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	IDH1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	mosaicism
Green	IDS	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	IDUA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFIH1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	IFITM5	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
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	IHH	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	IKBKG	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	IL11RA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IL1RN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IMPAD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INPPL1	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	ISCA-37406-Loss 16p13.3 region (includes CREBBP) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37418-Loss 17p11.2 recurrent (SMS/PLS) region (includes RAI1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37434-Loss 1p36 terminal region (includes GABRD) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37441-Loss 11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37501-Loss 17q23.1q23.2 recurrent region (includes TBX2, TBX4) Loss region	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	KIAA0753	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIF22	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KIF7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KMT2D	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	LBR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LEMD3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	LIFR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LMBR1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LMNA	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LMX1B	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	LONP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LPIN2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRP4	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LRP5	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	LTBP3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MAFB	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MAN2B1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAP3K7	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	MASP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MATN3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MEGF8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MEOX1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MESP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MGP	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	MMP13	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MMP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MNX1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MPDU1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MSX2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MYCN	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NAGLU	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NANS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NBAS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEK1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEU1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NF1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NFIX	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NIPBL	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NKX3-2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NLRP3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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	NOTCH2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NPR2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	NSD1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NSDHL	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	OBSL1	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	ORC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ORC4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ORC6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OSTM1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	P3H1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	P4HB	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	PAPSS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PAX3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PCNT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCYT1A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDE3A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	PDE4D	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PEX5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGM3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PHEX	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	PHGDH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGV	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIK3C2A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIK3R1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PITX1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PLOD2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLS3	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	POC1A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLR1A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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	POP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PPIB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRKAR1A	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PRMT7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PSAT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PSPH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PTDSS1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PTH1R	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PTHLH	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PTPN11	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PUF60	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	microdeletion
Green	PYCR1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB23	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB33B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RASGRP2	BIALLELIC, autosomal or pseudoautosomal	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	RFT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RMRP	BIALLELIC, autosomal or pseudoautosomal	N/A	locus-type-rna-misc
Green	RNU4ATAC	BIALLELIC, autosomal or pseudoautosomal	N/A	locus-type-rna-small-nuclear
Green	ROR2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RPGRIP1L	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RPL13	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RUNX2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SALL1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SALL4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SBDS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCARF2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SEC24D	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SERPINF1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SERPINH1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SETD2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SF3B4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SFRP4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SGSH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SH3BP2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SH3PXD2B	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	N/A
Green	SKI	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SLC10A7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC17A5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC26A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC29A3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC34A1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SLC34A3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC35C1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC35D1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC39A13	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLCO2A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMAD3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SMAD4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SMARCAL1	BIALLELIC, autosomal or pseudoautosomal	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, NOT imprinted	N/A	N/A
Green	SMOC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SNRPB	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SNX10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SOST	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SOX9	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SP7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPARC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUMF1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TALDO1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAPT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBCE	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBX15	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBX3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TBX4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TBX5	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TBX6	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TBXAS1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TCIRG1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCOF1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TCTEX1D2	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	TERT	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TGFB1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TGFB2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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	TMEM165	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM216	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM231	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM38B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TNFRSF11A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TNFRSF11B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TNFSF11	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TP63	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TRAPPC2	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	TREM2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRIP11	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRPS1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TRPV4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TRPV6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC21B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TWIST1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TYROBP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VDR	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
Green	WDR34	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR35	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR60	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WISP3	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	WNT1	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	WNT10B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WNT5A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	WNT7A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XRCC4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XYLT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XYLT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	YY1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ZMPSTE24	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZSWIM6	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A

Skeletal dysplasia (Version: 4.03.02.2)

Skeletal dysplasia (Version: )