Genomics England

Ichthyosis and erythrokeratoderma (Version: )

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

Relevant disorders: R165

Signed off date: 30 Nov 2022

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

53 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	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	AQP5	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ASPRV1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CARD14	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CAST	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CERS3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLDN1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP4F22	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DSC2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DSG1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DSP	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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, imprinted status unknown	N/A	N/A
Green	FLG2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GJA1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	Q3_21_MOI
Green	GJB2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GJB3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GJB4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GJB6	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ISCA-37417-Loss Xp22.31 recurrent region (includes STS) Loss region	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	JUP	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	KRT14	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KRT16	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KRT17	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	KRT6A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KRT6B	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KRT6C	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	KRT9	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	LOR	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	new-gene-name
Green	NIPAL4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPLA1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RHBDF2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	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	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	SNAP29	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPINK5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ST14	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STS	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	SULT2B1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAT	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	Other	Q2_21_rating, Q2_21_expert_review

Ichthyosis and erythrokeratoderma (Version: 3.22.01.3)

Ichthyosis and erythrokeratoderma (Version: )