Genomics England

Palmoplantar keratodermas (Version: )

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

Relevant disorders: R166

Signed off date: 30 Nov 2022

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

61 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	AAGAB	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ABCA12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABHD5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAM17	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH3A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALOX12B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALOXE3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP1S1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AQP5	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARSE	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	new-gene-name
Green	CASP14	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CAST	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDSN	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	Q2_22_rating, Q2_22_expert_review
Green	CERS3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLDN1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSTA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP4F22	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DSC2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	Q4_21_MOI
Green	DSC3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	Q2_22_MOI
Green	DSG1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DSG4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DSP	BOTH monoallelic and 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	ELOVL4	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ENPP1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FLG	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GJA1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GJB2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	JUP	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	Q4_22_MOI
Green	KANK2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KDSR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KRT1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KRT10	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KRT2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KRT6C	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KRT9	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	LIPN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LOR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	new-gene-name
Green	MBTPS2	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	MVK	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NIPAL4	BIALLELIC, autosomal or pseudoautosomal	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	PEX7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PHYH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PKP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPLA1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RHBDF2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RSPO1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDR9C7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SERPINB7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC27A4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLURP1	BIALLELIC, autosomal or pseudoautosomal	N/A	Q2_22_MOI
Green	SNAP29	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPINK5	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	Q4_21_MOI
Green	STS	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SULT2B1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TGM1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRPV3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	VPS33B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Palmoplantar keratodermas (Version: 3.02.01.3)

Palmoplantar keratodermas (Version: )