Genomics England

Hereditary neuropathy or pain disorder (Version: )

Relevant disorders: Hereditary neuropathy NOT PMP22 copy number, Hereditary neuropathy or pain disorder - NOT PMP22 copy number, R78

Signed off date: 4 Oct 2024

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

See this panel in PanelApp

157 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	AARS	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	new-gene-name
Green	ABCA1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABHD12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACOX1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	AGTPBP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGXT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AIFM1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	APOA1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	AR_CAG STR	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	STR
Green	ATL1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATP1A1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATP7A	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	B4GALNT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCKDHB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BICD2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	BSCL2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	C1orf194	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked, new-gene-name
Green	CADM3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHCHD10	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COQ7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX20	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX6A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPOX	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CYP27A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCTN1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DHTKD1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DHX9	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	DNAJB2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJC3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNM2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DNMT1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DRP2	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	gene-checked
Green	DST	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYNC1H1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EGR2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ELP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBLN5	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FGD4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FIG4	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FXN	BIALLELIC, autosomal or pseudoautosomal	N/A	nucleotide-repeat-expansion
Green	GALC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GAN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GARS	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	new-gene-name
Green	GBA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GBF1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GDAP1	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	GJB1	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	GNB4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GSN	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HARS	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	new-gene-name
Green	HEXA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HEXB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HINT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HK1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HMBS	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	HSPB1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HSPB8	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	IARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IGHMBP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INF2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ISCA-37436-Gain 17p12 recurrent (HNPP/CMT1A) region (includes PMP22) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37436-Loss 17p12 recurrent (HNPP/CMT1A) region (includes PMP22) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ITPR3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KIF1A	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	KIF5A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	LITAF	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	LMNA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRSAM1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LYST	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAG	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCM3AP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MFN2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MMACHC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MME	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	adult-onset
Green	MORC2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	FALSE	N/A
Green	MPV17	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPZ	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MT-ATP6	MITOCHONDRIAL	N/A	gene-checked
Green	MTMR2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTTP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYH14	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NAGA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDRG1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEFH	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NEFL	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	NEMF	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NGF	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NTRK1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OPA1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PDK3	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	PDXK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDYN	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PEX10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLEKHG5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLP1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PMM2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMP2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PMP22	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PNKP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPLA6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLR3A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLR3B	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PPOX	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PRDM12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRPS1	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	PRX	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB7A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	REEP1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RETREG1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RTN2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SACS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SARS	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	new-gene-name
Green	SBF1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SBF2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCARB2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCN10A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SCN11A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SCN9A	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SCO2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SEPT9	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	new-gene-name
Green	SETX	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SH3TC2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SIGMAR1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC12A6	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A19	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A46	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC52A2	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	SLC52A3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC5A6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC5A7	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SMN1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SORD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPG11	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPG7	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	SPTAN1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SPTBN4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPTLC1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SPTLC2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	SURF1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SYT2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TECPR2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TFG	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TRIM2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRPV4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	TTR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TYMP	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	VAPB	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	VCP	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	VRK1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VWA1	BIALLELIC, autosomal or pseudoautosomal	N/A	STR
Green	WARS	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	new-gene-name
Green	WNK1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XK	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	YARS	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	new-gene-name

Hereditary neuropathy or pain disorder (Version: 5.165.04.03.243.02.01.361.2)

Hereditary neuropathy or pain disorder (Version: )