Genomics England

Mosaic skin disorders - deep sequencing (Version: )

Relevant disorders: R327

Signed off date: 13 Mar 2025

Panel types: GMS Rare Disease, GMS signed-off

39 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ACTB	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	AKT1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	AKT3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	ATP2A2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BRAF	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	FGFR1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FGFR2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	somatic
Green	FGFR3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GJA4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	gene-checked, recurrent-variant
Green	GNA11	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GNA14	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	GNAQ	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	GNAS	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HRAS	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	IDH1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	IDH2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	IKBKG	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	somatic
Green	KRAS	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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	MAP2K1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MAP3K3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MTOR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MVD	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NEK9	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	somatic
Green	NF1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NF2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NRAS	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PIK3CA	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PIK3R1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	PORCN	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	mosaicism
Green	PTCH1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	mosaicism, somatic
Green	PTEN	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PTPN11	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RASA1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RHOA	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SMO	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SPRED1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TEK	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	somatic

Mosaic skin disorders - deep sequencing (Version: 2.492.01.3)

Mosaic skin disorders - deep sequencing (Version: )