Genomics England

keratin 10

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Epidermolysis bullosa and congenital skin fragility R-numbers: R164 Signed-off version 2.16	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Epidermolytic hyperkeratosis 2B, autosomal recessive, OMIM:620707, Epidermolytic hyperkeratosis 2A, autosomal dominant, OMIM:620150
Green in Ichthyosis and erythrokeratoderma R-numbers: R165 Signed-off version 4.16	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Epidermolytic hyperkeratosis 2B, autosomal recessive, OMIM:620707, Epidermolytic hyperkeratosis 2A, autosomal dominant, OMIM:620150
Green in Mosaic skin disorders - Deep sequencing R-numbers: R327 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Epidermolytic hyperkeratosis, Palmoplantar keratoderma, Ichythosis with confetti, Pachyonychia congenita
Green in Palmoplantar keratodermas R-numbers: R166 Signed-off version 4.16	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Epidermolytic hyperkeratosis 2B, autosomal recessive, OMIM:620707, Epidermolytic hyperkeratosis 2A, autosomal dominant, OMIM:620150
Green in Pigmentary skin disorders R-numbers: R236 Signed-off version 5.12	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes CRIE, Ichythosis with confetti, Pachyonychia congenita, Palmoplantar keratoderma, Epidermolytic hyperkeratosis, ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR