Genomics England

Rare genetic inflammatory skin disorders (Version: )

Relevant disorders: R332, GT1269, TP373

Signed off date: 12 Aug 2026

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

33 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ADA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AIRE	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CARD11	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	Q2_26_MOI
Green	CARD14	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CARD9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOCK8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ECM1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EGFR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FDPS	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GJA1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GJB3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GJB4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GNB1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	IL1RN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IL36RN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIT	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MVD	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NCSTN	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NLRP1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	Q1_26_MOI
Green	NLRP3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NOD2	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	OSMR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	Q3_26_MOI
Green	PSENEN	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RAG1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAG2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNU12	BIALLELIC, autosomal or pseudoautosomal	N/A	locus-type-rna-small-nuclear
Green	SAMHD1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SH3PXD2B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC39A4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STAT3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TMEM173	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	new-gene-name
Green	TREX1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A

Rare genetic inflammatory skin disorders (Version: 4.254.03.02.01.6)

Rare genetic inflammatory skin disorders (Version: )