Genomics England

Epidermolysis bullosa and congenital skin fragility (Version: )

Relevant disorders: R164

Signed off date: 22 Mar 2023

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

30 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ATP2C1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CAST	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDSN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL17A1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL7A1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CSTA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DSG1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DSP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DST	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EXPH5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FERMT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FLG2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IKBKG	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ITGA3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ITGA6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ITGB4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	JUP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KLHL24	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	KRT1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KRT10	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KRT14	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	KRT5	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	LAMA3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMB3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMC2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PKP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLEC	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SERPINB8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC39A4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TGM5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Epidermolysis bullosa and congenital skin fragility (Version: 2.21.3)

Epidermolysis bullosa and congenital skin fragility (Version: )