Genomics England

Arthrogryposis (Version: )

Relevant disorders: R83

Signed off date: 4 Oct 2024

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

157 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ACTA1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ACTC1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ADAMTS10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAMTS15	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADCY6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADGRG6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANTXR2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASCC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASXL1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ATP1A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GALNT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GAT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BICD2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CACNA1E	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CHAT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHRNA1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	CHRNB1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	CHRND	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	CHRNE	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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	COASY	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL12A1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL25A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL6A1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL6A2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL6A3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COLQ	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CRLF1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DAG1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR24	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNM2	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	DOK7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPAGT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYNC1H1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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	ECEL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERBB3	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	ERCC5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERGIC1	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	EXOSC3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAM20C	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBN2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	FGFR2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FGFR3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FILIP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKBP10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKRP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKTN	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	FLNC	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GBA	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	GBE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLDN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMPPB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSPG2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IRF6	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISPD	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	KAT6B	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	KCNK3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	KIAA1109	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	KIDINS220	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIF21A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KLHL40	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KLHL41	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KLHL7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LARGE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LGI3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LGI4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LMOD3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LMX1B	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MAGEL2	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	N/A	N/A
Green	MED12	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	MTM1	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	MUSK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYBPC1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MYH3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MYH8	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MYMK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NALCN	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NEB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEK9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ORAI1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PEX1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX11B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX13	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX14	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX16	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX19	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX26	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX6	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PEX7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PFKM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIEZO2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PIP5K1C	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	PLOD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLOD2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRG4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAPSN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RIPK4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RYR1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SCARF2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCN1A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SCN4A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SELENON	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SKI	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SLC18A3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC29A3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC35A3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC5A7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC6A9	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	SMN1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMPD4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STAC3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STIM1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	missense
Green	SYNE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TGFB2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TGFB3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TGFBR1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TGFBR2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TMEM5	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	TNNI2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TNNT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TNNT3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TOR1A	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	TOR1AIP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TPM2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TPM3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TRPV4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TSEN54	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBA1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	VAMP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VIPAS39	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS33B	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	ZMPSTE24	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Arthrogryposis (Version: 7.77.06.05.04.03.2)

Arthrogryposis (Version: )